Lista de obras - Christine Van Broeckhoven

-Synuclein gene duplications in sporadic Parkinson disease

article

18F-FDG PET, the early phases and the delivery rate of 18F-AV45 PET as proxies of cerebral blood flow in Alzheimer's disease: Validation against 15O-H2O PET

scientific article published on 09 August 2019

242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread ⬇️

artículo científico publicado el 1 de julio de 1991

5-HT2a receptor polymorphism gene in bipolar disorder and harm avoidance personality trait

artículo científico publicado en 2000

71st ENMC International Workshop, 6th workshop of the European Charcot-Marie-Tooth disease consortium: hereditary recurrent focal neuropathies, 24-25 September 1999, Soestduinen, the Netherlands

artículo científico publicado en 2000

A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42.

artículo científico publicado en 2015

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

artículo científico publicado en 2006

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

artículo científico publicado en 2011

A Contiguous Physical Map of the Pericentromeric Region of Chromosome 21q between D21Z1 and D21S13E

article by Wim Van Hul et al published March 1993 in Genomics

A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM

artículo científico publicado en 1993

A beta A4 amyloid precursor protein gene and Alzheimer's disease

artículo científico publicado en 1996

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

artículo científico publicado en 2014

A chromosome 18 genetic linkage study in three large Belgian pedigrees with bipolar disorder

artículo científico publicado en 1997

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

artículo científico publicado en 2016

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients

scientific article published on 01 January 1996

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy ⬇️

artículo científico publicado el 23 de septiembre de 2003

A high frequency EcoRI RFLP detected at the D21S13 locus

artículo científico publicado en 1990

A highly polymorphic locus is detected by probe CARLP II6.3 [D5S88]

artículo científico publicado en 1988

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

artículo científico publicado en 2009

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

artículo científico publicado en 2012

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

artículo científico publicado en 2013

A new (CA)nrapeat polymorphism at the D21S13E locus ⬇️

artículo científico publicado el 25 de septiembre de 1991

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

artículo científico publicado en 2001

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

scientific article published on 01 May 2001

A novel Alzheimer disease locus located near the gene encoding tau protein.

artículo científico publicado en 2015

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

artículo científico publicado en 2018

A novel GABRG2 mutation associated with febrile seizures

artículo científico publicado en 2006

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths

artículo científico publicado en 2002

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

artículo científico publicado en 2007

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

artículo científico publicado en 2006

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques

artículo científico publicado en 2004

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype

artículo científico publicado en 1999

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

artículo científico publicado en 2013

A polymorphic locus [D1S88] is detected by probe LA01.41 on chromosome 1p.

artículo científico publicado en 1989

A polymorphic locus [D21S144] is detected by probe pVC12 on chromosome 21.

artículo científico publicado en 1989

A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.

artículo científico publicado en 1994

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease

artículo científico publicado en 1998

A rare MspI RFLP of the DMD probe p20 (DXS269)

artículo científico publicado el 1 de abril de 1992

A second family with autosomal dominant burning feet syndrome

artículo científico publicado en 1999

A study of the SORL1 gene in Alzheimer's disease and cognitive function

artículo científico publicado en 2009

A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function

artículo científico publicado en 2015

A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3.

artículo científico publicado en 1995

ALS Genes in the Genomic Era and their Implications for FTD.

artículo científico publicado en 2018

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

artículo científico publicado en 2011

APOE and Lipid Level Synergy Effects on Declarative Memory Functioning in Adulthood

APOE and the risk of PD with or without dementia in a population-based study

article

APOE epsilon4 and Alzheimer's disease: positive association in a Colombian clinical series and review of the Latin-American studies

artículo científico publicado en 2001

APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease.

artículo científico publicado en 1994

APOE genotyping in differential diagnosis of Alzheimer's disease

artículo científico publicado en 1996

APOE ε4 is associated with longer telomeres, and longer telomeres among ε4 carriers predicts worse episodic memory

artículo científico publicado en 2010

APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease.

artículo científico publicado en 2009

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

artículo científico publicado en 2006

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

artículo científico publicado en 1999

Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers

artículo científico publicado en 1989

Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy

artículo científico publicado en 1988

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome

artículo científico publicado en 1998

Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family ⬇️

artículo científico publicado el 8 de octubre de 2003

Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium

artículo científico publicado en 1997

Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study

scientific article published on 20 August 2020

Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia

artículo científico publicado en 2000

Alpha-synuclein repeat variants and survival in Parkinson's disease

artículo científico publicado en 2014

Altered deactivation in individuals with genetic risk for Alzheimer's disease

artículo científico

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

artículo científico publicado en 2007

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.

artículo científico publicado en 2006

Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites

artículo científico publicado en 2011

Alzheimer's disease associated presenilin 1 interacts with HC5 and ZETA, subunits of the catalytic 20S proteasome

artículo científico publicado en 1999

Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression.

artículo científico publicado en 2003

Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)

artículo científico publicado en 1990

Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease

artículo científico publicado en 2001

Amyloid pathology influences aβ1-42 cerebrospinal fluid levels in dementia with lewy bodies

artículo científico publicado en 2013

Amyloid precursor protein gene mutation in early-onset Alzheimer's disease.

artículo científico publicado en 1991

Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation

artículo científico publicado en 2011

Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease

artículo científico publicado en 1998

Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

scientific article published on 11 September 2020

An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins

scientific article published on 01 October 1998

An informative MspI polymorphism detected at the D21S16 locus

artículo científico publicado en 1990

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.

artículo científico publicado en 2018

Analysis of the tyrosine hydroxylase and dopamine D4 receptor genes in a Croatian sample of bipolar I and unipolar patients

artículo científico publicado en 1997

ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families

scientific article published on 01 February 1998

Apolipoprotein E and carotid artery atherosclerosis: the Rotterdam study

artículo científico publicado en 2001

Apolipoprotein E and longevity: the Rotterdam Study

artículo científico publicado en 2001

Apolipoprotein E epsilon4 and the risk of dementia with stroke. A population-based investigation

artículo científico publicado en 1997

Apolipoprotein E genotype and association between smoking and early onset Alzheimer's disease

artículo científico publicado en 1995

Apolipoprotein E genotype and concomitant clinical features in early-onset Alzheimer's disease.

artículo científico publicado en 1996

Apolipoprotein E genotype and progression of Alzheimer's disease: the Rotterdam Study.

artículo científico publicado en 1999

Apolipoprotein E genotype in patients with alzheimer's disease: Implications for the risk of dementia among relatives

article

Apolipoprotein E genotype, atherosclerosis, and cognitive decline: the Rotterdam Study

artículo científico publicado en 1998

Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease

scientific article published on 01 May 1994

Arginine vasopressin receptor gene-based single-nucleotide polymorphism analysis in attention deficit hyperactivity disorder

artículo científico publicado en 2009

Assay of transfection rate in insect cells on a single cell level

scientific article published on 01 January 1998

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

artículo científico publicado en 1990

Association analysis of the 5-HT2C receptor and 5-HT transporter genes in bipolar disorder

artículo científico publicado en 1997

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

artículo científico publicado en 2011

Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population

artículo científico publicado en 2006

Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease

artículo científico publicado en 2005

Association of short-term cognitive decline and MCI-to-AD dementia conversion with CSF, MRI, amyloid- and F-FDG-PET imaging

artículo científico publicado en 2019

Association study between bipolar disorder and candidate genes involved in dopamine-serotonin metabolism and GABAergic neurotransmission: a preliminary report

scientific article published on 01 January 1996

Association study of cholesterol-related genes in Alzheimer's disease.

artículo científico publicado en 2007

Associations between common arginine vasopressin 1b receptor and glucocorticoid receptor gene variants and HPA axis responses to psychosocial stress in a child psychiatric population

artículo científico publicado en 2010

Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts

artículo científico publicado en 2011

Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats

artículo científico publicado en 2004

Atherosclerosis, apolipoprotein E, and prevalence of dementia and Alzheimer's disease in the Rotterdam Study

artículo científico publicado en 1997

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Autosomal dominant burning feet syndrome

artículo científico publicado en 1999

Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.

artículo científico publicado en 2004

Behavioral disturbances without amyloid deposits in mice overexpressing human amyloid precursor protein with Flemish (A692G) or Dutch (E693Q) mutation.

artículo científico publicado en 2000

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

artículo científico publicado en 2010

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

artículo científico publicado en 2013

Binding partners of Alzheimer's disease proteins: are they physiologically relevant?

artículo científico publicado en 2000

Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

artículo científico publicado en 2012

Brain-specific tryptophan hydroxylase, TPH2, and 5-HTTLPR are associated with frontal lobe symptoms in Alzheimer's disease

artículo científico publicado en 2013

C-terminal neurogranin is increased in cerebrospinal fluid but unchanged in plasma in Alzheimer's disease

artículo científico publicado en 2015

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.

artículo científico publicado en 2013

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

artículo científico publicado en 1993

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia

artículo científico publicado en 2001

CAG repeat expansions in bipolar and unipolar disorders.

artículo científico publicado en 1997

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

artículo científico publicado en 2007

Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice

artículo científico publicado en 2012

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

artículo científico publicado en 2001

Cerebrospinal fluid Aβ1-40 improves differential dementia diagnosis in patients with intermediate P-tau181P levels

artículo científico publicado en 2013

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene

artículo científico publicado en 2015

Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family

artículo científico publicado en 2006

Charcot-Marie-Tooth disease and related peripheral neuropathies

artículo científico publicado en 1997

Charcot-Marie-Tooth disease: an intermediate form

scientific article published on 01 August 1998

Cholesterol and triglycerides moderate the effect of apolipoprotein E on memory functioning in older adults

artículo científico

Chromosome 18 workshop

artículo científico publicado en 1998

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

artículo científico publicado en 2017

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

artículo científico publicado en 2015

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

artículo científico publicado en 2009

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

article by L E Warner et al published September 1996 in Neuron

Clinical variability and onset age modifiers in an extended Belgian GRN founder family.

artículo científico publicado en 2018

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

artículo científico publicado en 2015

Cloning and characterization of a 135- to 500-kb region of homology on the long arm of human chromosome 21.

artículo científico publicado en 1994

Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

artículo científico publicado en 2006

Comment - Genes and temperament, a shortcut for unravelling the genetics of psychopathology?

artículo científico publicado en 1998

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

artículo científico publicado en 2017

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

artículo científico publicado en 2014

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

artículo científico publicado en 2010

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

artículo científico publicado en 2011

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

artículo científico publicado en 2021

Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia

artículo científico publicado en 2009

Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies

artículo científico publicado en 1996

Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes

artículo científico publicado en 2013

Comprehensive Genetic and Mutation Analysis of Familial Dementia with Lewy Bodies Linked to 2q35-q36

artículo científico publicado en 2010

Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24

artículo científico publicado en 1999

Contribution of TARDBP to Alzheimer's disease genetic etiology

artículo científico publicado en 2010

Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population

artículo científico publicado en 2012

Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease

artículo científico publicado en 2020

Corrigendum to "Genome-wide association interaction analysis for Alzheimer's disease." [Neurobiol. Aging 35 (2014) 2436-2443].

artículo científico publicado en 2015

Corticotropin-releasing factor-binding protein, stress and major depression

artículo científico publicado en 2005

Current Insights into Molecular Mechanisms of Alzheimer Disease and Their Implications for Therapeutic Approaches

artículo científico publicado en 2007

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

artículo científico

Current status on Alzheimer disease molecular genetics: from past, to present, to future

artículo científico publicado en 2010

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

artículo científico publicado en 2011

DNA fingerprints revealing common and divergent human DNA methylation patterns

artículo científico publicado en 1989

DNMBP is genetically associated with Alzheimer dementia in the Belgian population.

artículo científico publicado en 2008

Data Mining: Applying the AD&FTD Mutation Database to Progranulin

artículo científico publicado en 2018

De novo KCNQ2 mutations in patients with benign neonatal seizures

artículo científico publicado en 2004

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

artículo científico publicado en 2003

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

artículo científico publicado en 2001

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

artículo científico publicado en 2017

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

artículo científico publicado en 1994

Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs

artículo científico publicado en 2014

Dense-core plaques in Tg2576 and PSAPP mouse models of Alzheimer's disease are centered on vessel walls

artículo científico publicado en 2005

Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric

artículo científico publicado en 2002

Detection of tandem duplications and implications for linkage analysis.

artículo científico publicado en 1994

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

artículo científico publicado en 1997

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA.

artículo científico publicado en 1999

Diagnostic Accuracy of Cerebrospinal Fluid Amyloid-β Isoforms for Early and Differential Dementia Diagnosis

artículo científico publicado en 2015

Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration.

artículo científico publicado en 2018

Diffusion Kurtosis Imaging: A Possible MRI Biomarker for AD Diagnosis?

artículo científico publicado en 2015

Diffusion kurtosis imaging to detect amyloidosis in an APP/PS1 mouse model for Alzheimer's disease.

artículo científico publicado en 2013

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

artículo científico publicado en 2003

Dinucleotide repeat polymorphism at the D21S145 locus ⬇️

artículo científico publicado el 11 de marzo de 1992

Dinucleotide repeat polymorphism at the D21S16 [correction of D1S16] locus ⬇️

artículo científico publicado el 11 de marzo de 1992

Dinucleotide repeat polymorphism at the D21S258 locus

artículo científico publicado el 1 de septiembre de 1992

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

artículo científico publicado en 2010

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

artículo científico publicado en 1996

Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics

scientific article published on 01 September 1999

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

artículo científico publicado en 2013

Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia.

artículo científico publicado en 2006

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

artículo científico

Duchenne muscular dystrophy immunohistochemistry of foetal muscles

artículo científico publicado el 1 de enero de 1993

Dutch hereditary cerebral amyloid angiopathy: structural lesions and apolipoprotein E genotype

artículo científico publicado en 1997

EEG Dominant Frequency Peak Differentiates Between Alzheimer's Disease and Frontotemporal Lobar Degeneration

artículo científico publicado en 2016

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

artículo científico publicado en 2011

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

artículo científico publicado en 2009

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

artículo científico publicado en 2010

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

artículo científico publicado en 2009

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

artículo científico publicado en 2009

Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: The Rotterdam Study

artículo científico publicado en 2002

Endocytic disturbances distinguish among subtypes of Alzheimer's disease and related disorders

artículo científico publicado en 2001

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scholarly article published in Nature Genetics

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

article

Erratum: Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

article

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

artículo científico publicado en 1998

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

scientific article published on 01 January 1996

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group ⬇️

artículo científico publicado el 1 de enero de 1992

Estrogen use and early onset Alzheimer's disease: a population-based study

artículo científico publicado en 1999

European combined analysis of the CTG18.1 and the ERDA1 CAG/CTG repeats in bipolar disorder

artículo científico publicado en 2002

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

artículo científico publicado en 2016

Evidence that Abeta42 plasma levels in presenilin-1 mutation carriers do not allow for prediction of their clinical phenotype

artículo científico publicado en 1999

Evidence that the beta-catenin nuclear translocation assay allows for measuring presenilin 1 dysfunction

artículo científico publicado en 2000

Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers

scientific article published on 01 January 1989

Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.

artículo científico publicado en 2001

Expanded RED products and loci containing CAG/CTG repeats on chromosome 17 (ERDA1) and chromosome 18 (CTG18.1) in trans-generational pairs with bipolar affective disorder

artículo científico publicado en 2004

Expanded trinucleotide CAG repeats in families with bipolar affective disorder

artículo científico publicado en 1997

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

artículo científico publicado en 2013

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family.

artículo científico publicado en 2018

Extra-pair paternity results from female preference for high-quality males in the blue tit

artículo científico publicado en 1992

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

artículo científico publicado en 2010

Fabry disease in a patient with Turner syndrome

artículo científico publicado en 2009

Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion

artículo científico publicado en 2000

Familial clustering and genetic risk for dementia in a genetically isolated Dutch population

artículo científico publicado en 2004

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

artículo científico publicado en 2017

Fatigue before and after mild traumatic brain injury: pre-post-injury comparisons in relation to Apolipoprotein E.

artículo científico publicado en 2007

Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion

artículo científico publicado en 1998

Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association

artículo científico publicado en 2010

Fractal analysis of amyloid plaques in Alzheimer's disease patients and mouse models

artículo científico publicado en 2009

Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies

artículo científico publicado en 2006

Frontotemporal dementia and its subtypes: a genome-wide association study

artículo científico publicado en 2014

Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update

artículo científico publicado en 2007

Frontotemporal lobar degeneration: current concepts in the light of recent advances

artículo científico publicado en 2007

Functional Changes in the Language Network in Response to Increased Amyloid β Deposition in Cognitively Intact Older Adults

artículo científico

Functional Changes in the Language Network in Response to Increased Amyloid β Deposition in Cognitively Intact Older Adults

artículo científico publicado en 2016

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism

artículo científico publicado en 2014

Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q

artículo científico publicado en 1997

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

artículo científico publicado en 2001

GFRA2 in GRN-related frontotemporal lobar degeneration

artículo científico publicado en 2018

GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population

artículo científico publicado en 2009

Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression

scientific article published on 01 March 2002

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

artículo científico publicado en 2014

Genes and loci involved in febrile seizures and related epilepsy syndromes

artículo científico publicado en 2006

Genes for Alzheimer Dementia

artículo científico publicado en 1999

Genetic Alzheimer Disease and Sporadic Dementia With Lewy Bodies: A Comorbidity Presenting as Primary Progressive Aphasia

artículo científico publicado en 2017

Genetic Creutzfeldt-Jakob disease mimicking chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2015

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2011

Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3.

artículo científico publicado en 1995

Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case???control study

article

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

artículo científico publicado en 2012

Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample

artículo científico publicado en 1999

Genetic contribution of FUS to frontotemporal lobar degeneration

artículo científico publicado en 2010

Genetic coupling study using DNA markers in the familial form of Alzheimer's disease

artículo científico publicado en 1989

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

artículo científico publicado en 2010

Genetic findings in degenerative dementia

artículo científico publicado en 1989

Genetic insights in Alzheimer's disease

artículo científico

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.

artículo científico publicado en 1990

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis

scientific article published on 06 May 2020

Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder

scientific article published on 01 May 1999

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25

artículo científico publicado en 1999

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease

artículo científico publicado en 2006

Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis

artículo científico publicado en 2018

Genetic testing has no place as a routine diagnostic test in sporadic and familial cases of Alzheimer's disease.

artículo científico publicado en 2004

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

artículo científico publicado en 2015

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

artículo científico publicado en 2008

Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease

artículo científico publicado en 2008

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response

artículo científico publicado en 2007

Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia

scientific article published on 02 September 2020

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2007

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

scientific journal article

Genetics and pathology of alpha-secretase site AbetaPP mutations in the understanding of Alzheimer's disease.

artículo científico publicado en 2006

Genetics of early-onset Alzheimer dementia.

artículo científico publicado en 2003

Genetics of personality: are we making progress? ⬇️

artículo científico publicado el 1 de octubre de 2003

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

artículo científico publicado en 2003

Genome-wide association interaction analysis for Alzheimer's disease

artículo científico publicado en 2014

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

artículo científico publicado en 2009

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

artículo científico publicado en 2009

Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset

artículo científico publicado en 2020

Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

artículo científico publicado en 2012

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

artículo científico publicado en 2005

Genomewide scan for affective disorder susceptibility Loci in families of a northern Swedish isolated population

artículo científico publicado en 2004

Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration

scientific article published on 01 November 1999

Genotype–phenotype links in frontotemporal lobar degeneration

artículo científico publicado en 2018

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

artículo científico publicado en 2014

Glucocorticoid receptor gene-based SNP analysis in patients with recurrent major depression.

artículo científico publicado en 2006

Gly341Arg mutation indicating malignant hyperthermia susceptibility:

artículo científico publicado en 1998

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update

artículo científico publicado en 2008

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia

artículo científico publicado en 2012

Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous

artículo científico publicado en 2001

Hereditary cerebral hemorrhage with amyloidosis Dutch type (AbetaPP 693): decreased plasma amyloid-beta 42 concentration

artículo científico publicado en 2003

Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family

artículo científico publicado en 2000

Hereditary neuralgic amyotrophy

artículo científico publicado en 2001

Hereditary neuralgic amyotrophy: mutation analysis of candidate genes

scientific article published on 01 September 1999

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

artículo científico publicado en 1996

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

article

High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1.

scientific article published on 01 July 1997

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

artículo científico publicado en 2004

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

artículo científico publicado en 1998

IPSC-Derived Neuronal Cultures Carrying the Alzheimer's Disease Associated TREM2 R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network

artículo científico publicado en 2020

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

scientific journal article

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

artículo científico publicado en 2017

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

artículo científico publicado en 2010

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1

scientific article published on 01 March 1994

Identification of a Drosophila presenilin homologue: evidence of alternatively spliced forms

artículo científico publicado en 1998

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype

artículo científico publicado en 1994

Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome.

artículo científico publicado en 1991

Immunoreactivity of presenilin-1 and tau in Alzheimer's disease brain

artículo científico publicado en 1998

In vitro studies of Flemish, Dutch, and wild-type beta-amyloid provide evidence for two-staged neurotoxicity

artículo científico publicado en 2002

Increased caspase activation and decreased TDP-43 solubility in progranulin knockout cortical cultures

artículo científico publicado en 2010

Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology

artículo científico publicado en 2013

Increased risk of dementia following mild head injury for carriers but not for non-carriers of the APOE epsilon4 allele

artículo científico publicado en 2006

Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy

artículo científico publicado en 2001

Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype

artículo científico publicado en 2001

International view on genetic frontotemporal dementia

scientific article published on 03 December 2019

Intraneuronal amyloid beta and reduced brain volume in a novel APP T714I mouse model for Alzheimer's disease.

artículo científico publicado en 2006

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

artículo científico publicado en 2016

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

artículo científico publicado en 2015

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

artículo científico publicado en 2013

Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum

scientific article published on October 2008

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

artículo científico publicado en 2007

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

scientific article published on 01 September 1999

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

artículo científico publicado en 2011

Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis

scientific article published on 01 January 1998

Lack of association between GABRA3 and unipolar affective disorder: a multicentre study

artículo científico publicado en 2001

Lack of association between the 5HT2A receptor polymorphism (T102C) and unipolar affective disorder in a multicentric European study

artículo científico publicado en 2003

Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study.

artículo científico publicado en 2006

Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study

artículo científico publicado en 2006

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

artículo científico publicado en 2015

Large-scale replication and heterogeneity in Parkinson disease genetic loci

artículo científico publicado en 2012

Linkage analysis of bipolar illness with X-chromosome DNA markers: a susceptibility gene in Xq27-q28 cannot be excluded

scientific article published on 01 December 1994

Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree

artículo científico publicado el 1 de mayo de 1992

Linkage analysis of the Duffy blood group marker with several chromosome 1 genes in an extended pedigree with Charcot-Marie-Tooth disease

artículo científico publicado en 1989

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample

artículo científico publicado en 2005

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

artículo científico publicado en 1994

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

scientific article published on 01 May 1996

Linkage of mood disorders with D2, D3 and TH genes: a multicenter study

article

Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome

artículo científico publicado en 1993

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

artículo científico publicado en 1989

Location of the hidden break in large subunit ribosomal RNA of Artemia salina

scientific article published on 01 December 1984

Locus-specific mutation databases for neurodegenerative brain diseases

artículo científico publicado en 2012

Longer leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjects

artículo científico publicado en 2012

Longitudinal stability of cerebrospinal fluid biomarker levels: fulfilled requirement for pharmacodynamic markers in Alzheimer's disease

artículo científico publicado en 2013

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

artículo científico publicado en 2013

Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.

artículo científico publicado en 2019

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

artículo científico publicado en 2015

Loss of progranulin function in frontotemporal lobar degeneration

scientific article published on 06 March 2008

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

artículo científico publicado en 2008

Lymphoblast-derived integration-free ISRM-CON9 iPS cell line from a 75year old female

artículo científico publicado en 2017

Lymphoblast-derived integration-free iPS cell line from a 65-year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

artículo científico publicado en 2015

Lymphoblast-derived integration-free iPS cell line from a 69-year-old male

artículo científico publicado en 2015

Lymphoblast-derived integration-free iPS cell line from a female 67-year-old Alzheimer's disease patient with TREM2 (R47H) missense mutation

artículo científico publicado en 2016

Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

artículo científico publicado en 2018

Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

artículo científico publicado en 2018

Lymphoblast-derived integration-free iPSC lines from a female and male Alzheimer's disease patient expressing different copy numbers of a coding CNV in the Alzheimer risk gene CR1.

artículo científico publicado en 2016

MRI predictors of amyloid pathology: results from the EMIF-AD Multimodal Biomarker Discovery study

scholarly article by Mara Ten Kate et al published 27 September 2018 in Alzheimers Research & Therapy

Major affective disorders and schizophrenia: a common molecular signature?

artículo científico publicado en 2006

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

article

Malignant hyperthermia susceptibility in a patient with concomitant motor neuron disease

artículo científico publicado en 1996

Manic-depressive illness and linkage reanalysis in the Xq27-Xq28 region of chromosome X

artículo científico publicado en 1995

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3

artículo científico publicado el 1 de diciembre de 1992

Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22 ⬇️

artículo científico publicado el 1 de abril de 1991

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

artículo científico publicado en 2006

Mechanisms of granulin deficiency: lessons from cellular and animal models

artículo científico publicado en 2013

Messenger RNA electroporation of human monocytes, followed by rapid in vitro differentiation, leads to highly stimulatory antigen-loaded mature dendritic cells

artículo científico publicado en 2002

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

artículo científico publicado en 2013

Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Metal Body Armour: Biomimetic Engineering of Lattice Structures †

Microglial upregulation of progranulin as a marker of motor neuron degeneration

artículo científico publicado en 2010

Modifiers of GRN-Associated Frontotemporal Lobar Degeneration.

artículo científico publicado en 2017

Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding

scientific article published on 01 July 1995

Molecular biological characterization of an azole-resistant Candida glabrata isolate ⬇️

artículo científico publicado el 1 de octubre de 1997

Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results

artículo científico publicado en 1999

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion

artículo científico publicado en 1998

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

artículo científico publicado en 1996

Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field

artículo científico publicado en 1999

Molecular genetics of Alzheimer's disease

scientific article published on 01 December 1998

Molecular genetics of Alzheimer's disease: an update

scientific article published on January 2008

Molecular genetics of Alzheimer's disease: what have we learned?

artículo científico publicado en 2000

Molecular genetics of early-onset Alzheimer's disease revisited

artículo científico publicado en 2016

Molecular pathogenesis of frontotemporal lobar degeneration: basic science seminar in neurology

artículo científico publicado en 2008

Molecular pathways of frontotemporal lobar degeneration

artículo científico publicado en 2010

Molecular study of chromosome 15 in 22 patients with Angelman syndrome

scientific article published on 01 January 1993

Mortality from hereditary cerebral haemorrhage with amyloidosis--Dutch type. The impact of sex, parental transmission and year of birth

artículo científico publicado en 1997

Motor-neuron disease: Rogue gene in the family.

artículo científico publicado en 2009

Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency

scientific article published on 01 May 1996

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export

scientific article published on 14 March 2020

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

scientific article published on 16 September 2016

Mutation (variation) databases and registries: a rationale for coordination of efforts

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

artículo científico publicado en 2002

Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).

artículo científico publicado en 2001

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations

artículo científico publicado en 1997

Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24

scientific article published on 01 February 1997

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

artículo científico publicado en 1998

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

artículo científico publicado en 2001

Mutation screening of Charcot-Marie-Tooth patients in Poland

scientific article published on 01 September 1999

Mutation screening of the tau gene in patients with early-onset Alzheimer's disease

artículo científico publicado en 1999

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

article

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

artículo científico publicado en 2015

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2011

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

artículo científico publicado en 2002

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

artículo científico publicado en 2005

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

artículo científico publicado en 2016

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

artículo científico publicado en 1999

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

artículo científico publicado en 2007

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family

artículo científico publicado en 1997

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

artículo científico publicado en 2017

NanoPack: visualizing and processing long read sequencing data

scholarly article published 21 December 2017

NanoPack: visualizing and processing long-read sequencing data

artículo científico publicado en 2018

NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

artículo científico publicado en 2019

Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

artículo científico publicado en 2009

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

artículo científico publicado en 2016

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

New insights into the genetic etiology of Alzheimer's disease and related dementias

artículo científico publicado en 2022

Newest Methods for Detecting Structural Variations

scientific article published on 19 March 2019

No added diagnostic value of non-phosphorylated tau fraction (p-taurel) in CSF as a biomarker for differential dementia diagnosis

artículo científico publicado en 2017

No allelic association or interaction of three known functional polymorphisms with bipolar disorder in a northern Swedish isolated population

artículo científico publicado en 2006

No association between CALHM1 and risk for Alzheimer dementia in a Belgian population

artículo científico publicado en 2009

No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer's disease

artículo científico publicado en 2007

No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers

artículo científico publicado en 2020

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration

artículo científico publicado en 2009

No association of the trace amine-associated receptor 6 with bipolar disorder in a northern Swedish population

scientific article published on 01 February 2006

No implication of brain-derived neurotrophic factor (BDNF) gene in unipolar affective disorder: evidence from Belgian first and replication patient-control studies.

artículo científico publicado en 2005

No influence of presenilin1 I143T and G384A mutations on endogenous tau phosphorylation in human and mouse neuroblastoma cells.

artículo científico publicado en 1999

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Non-motor symptoms in a Flanders-Belgian population of 215 Parkinson's disease patients as assessed by the Non-Motor Symptoms Questionnaire

artículo científico publicado en 2012

Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study

artículo científico publicado en 2010

Non-replication of the brain-derived neurotrophic factor (BDNF) association in bipolar affective disorder: a Belgian patient-control study

artículo científico publicado en 2004

Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease

artículo científico publicado en 2000

Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion

artículo científico publicado en 1995

Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family.

artículo científico publicado en 2003

Novel Alzheimer's disease risk genes: exhaustive investigation is paramount

artículo científico publicado en 2019

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies

artículo científico publicado en 1999

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

artículo científico publicado en 2003

Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs

artículo científico publicado en 2009

Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

artículo científico publicado en 2004

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

artículo científico publicado en 1999

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

artículo científico publicado en 2009

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

artículo científico publicado en 2006

Octapeptide repeat insertions in the prion protein gene and early onset dementia

artículo científico publicado en 2004

Of giant axons and curly hair

artículo científico publicado en 2000

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

artículo científico publicado en 1993

PCR detection of the frequent TaqI RFLP at locus D21S13E ⬇️

artículo científico publicado el 11 de mayo de 1991

PCR detection of two RFLP's at the D21S13 locus

artículo científico publicado en 1990

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

artículo científico publicado en 1998

PMP22 Thr118Met is not a clinically relevant CMT1 marker

scientific article published on 01 September 2000

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

artículo científico publicado en 2004

PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.

artículo científico publicado en 2003

Parametric and nonparametric genome scan analyses for human handedness

artículo científico publicado en 2003

Parietal cortex activation predicts memory decline in apolipoprotein E-epsilon4 carriers

artículo científico publicado en 2006

Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes

artículo científico publicado en 2011

Pathogenesis of polyglutamine disorders: aggregation revisited

artículo científico publicado en 2003

Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

artículo científico publicado en 2001

Patient homozygous for a recessive POLG mutation presents with features of MERRF

scientific article published on 01 December 2003

Patient-control association study of substance P-related genes in unipolar and bipolar affective disorders

artículo científico publicado en 2005

Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum

artículo científico publicado en 2022

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

scientific article published on 14 August 2019

Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies

scientific article published on 01 April 1994

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

artículo científico publicado en 2008

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

artículo científico publicado en 2016

Phenotypic variation of autosomal-dominant corticobasal degeneration

artículo científico publicado en 2012

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young

artículo científico publicado en 2012

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation

artículo científico publicado en 2013

Polymorphism of brain derived neurotrophic factor influences β amyloid load in cognitively intact apolipoprotein E ε4 carriers

artículo científico publicado en 2013

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

artículo científico publicado en 2010

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease

artículo científico publicado en 2004

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

artículo científico publicado en 2013

Positive association between the GABRA5 gene and unipolar recurrent major depression

artículo científico publicado en 1997

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders

artículo científico publicado en 2002

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European multicenter association study of affective disorders

scholarly article by Isabelle Massat et al published 14 February 2002 in American Journal of Medical Genetics Part A

Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population.

artículo científico publicado en 2004

Potent amyloidogenicity and pathogenicity of Aβ43.

artículo científico publicado en 2011

Power of selective genotyping in genetic association analyses of quantitative traits

scientific article published on 01 March 2000

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques

scientific article published on 01 July 1995

Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation

artículo científico publicado en 2018

Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation

artículo científico publicado en 1998

Presenilin mutations in Alzheimer's disease

artículo científico publicado en 1998

Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type

scientific article published on 01 July 1997

Presenilins mutated at Asp-257 or Asp-385 restore Pen-2 expression and Nicastrin glycosylation but remain catalytically inactive in the absence of wild type Presenilin

artículo científico publicado en 2003

Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).

artículo científico publicado en 2000

Primary and secondary structure of the 18 S ribosomal RNA of the insect speciesTenebrio molitor ⬇️

artículo científico publicado el 9 de mayo de 1988

Primary and secondary structure of the 18S ribosomal RNA of the bird spider Eurypelma californica and evolutionary relationships among eukaryotic phyla

artículo científico publicado en 1988

Processing of presenilin 1 in brains of patients with Alzheimer's disease and controls

artículo científico publicado en 1997

Progranulin expression correlates with dense-core amyloid plaque burden in Alzheimer disease mouse models

artículo científico publicado en 2009

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

artículo científico publicado en 2006

Progranulin null mutations in both sporadic and familial frontotemporal dementia

artículo científico publicado en 2007

Progranulin variability has no major role in Parkinson disease genetic etiology

artículo científico publicado en 2008

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.

artículo científico publicado en 2015

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

artículo científico publicado en 2002

Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification

artículo científico publicado en 2003

Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease

artículo científico publicado en 2006

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

artículo científico publicado en 2003

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

Proteasome degrades soluble expanded polyglutamine completely and efficiently

artículo científico publicado en 2004

Proteolytic processing of presenilin-1 (PS-1) is not associated with Alzheimer's disease with or without PS-1 mutations

artículo científico publicado en 1997

Proteolytic processing of presenilin-1 in human lymphoblasts is not affected by the presence of the I143T and G384A mutations

artículo científico publicado en 1999

Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees

scientific article published on 01 January 1996

Pure progressive amnesia as variant of genetically proven Alzheimer disease.

artículo científico publicado en 2009

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

artículo científico publicado en 1994

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

artículo científico publicado en 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.

artículo científico publicado en 2018

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

artículo científico publicado en 2003

Reduced brain volumes in mice expressing APP-Austrian mutation but not in mice expressing APP-Swedish-Austrian mutations

artículo científico publicado en 2008

Reduced functional brain activity response in cognitively intact apolipoprotein E epsilon4 carriers

artículo científico

Reduced hippocampal volume in non-demented carriers of the apolipoprotein E epsilon4: relation to chronological age and recognition memory

artículo científico publicado en 2006

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations

artículo científico publicado en 2015

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin

artículo científico publicado en 2015

Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25

artículo científico publicado en 1997

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

artículo científico publicado en 1997

Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3.

artículo científico publicado en 1999

Relationship between C9orf72 repeat size and clinical phenotype

artículo científico publicado en 2017

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

artículo científico publicado en 2009

Reply

artículo científico publicado en 2010

Reply: ATP10B and the risk for Parkinson's disease

artículo científico publicado en 2020

Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism

artículo científico publicado en 2020

Report of the 8th annual symposium of the European Charcot-Marie-Tooth Consortium, Antwerpen, Belgium, July 2-4, 1999.

artículo científico publicado en 1999

Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase.

artículo científico publicado en 2011

Response to Zhang et al (2005): loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major Depression. Neuron 45, 11-16.

artículo científico publicado en 2005

Risk estimates of dementia by apolipoprotein E genotypes from a population-based incidence study: the Rotterdam Study

artículo científico publicado en 1998

Risk of left ventricular dysfunction in patients with probable Alzheimer's disease with APOE*4 allele.

artículo científico publicado en 1998

Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease

artículo científico publicado en 2019

Role of glucocorticoid receptor gene in vulnerability for major depression: commentary on Neigh and Nemeroff

artículo científico publicado en 2006

Role of progranulin as a biomarker for Alzheimer's disease

artículo científico publicado en 2010

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

artículo científico publicado en 2011

SNPbox: a modular software package for large-scale primer design

artículo científico publicado en 2004

SNPbox: web-based high-throughput primer design from gene to genome

artículo científico publicado en 2004

SNPbox: web-based high-throughput primer design with an eye for repetitive sequences

artículo científico publicado en 2007

SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population

artículo científico publicado en 2008

SSHSuite: an integrated software package for analysis of large-scale suppression subtractive hybridization data

artículo científico publicado en 2004

Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease.

artículo científico publicado en 1991

Selection of human chromosome 21-specific DNA probes for genetic analysis in Alzheimer's dementia and Down syndrome

artículo científico publicado en 1989

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

artículo científico publicado en 2014

Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study

artículo científico publicado en 2004

Serum apolipoprotein E level is not increased in Alzheimer's disease: the Rotterdam study

artículo científico publicado en 1998

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2009

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in bipolar disorder.

artículo científico publicado en 2007

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder

scientific article published on 28 June 2007

Slowing of saccadic eye movements in sporadic Creutzfeldt-Jakob disease

artículo científico publicado en 2013

Smoking and risk of dementia and Alzheimer's disease in a population-based cohort study: the Rotterdam Study

artículo científico publicado en 1998

Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family

artículo científico publicado en 1999

Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments

artículo científico publicado en 2007

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy

artículo científico publicado en 2004

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

scientific article published on 15 October 2019

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

scientific article published on 11 June 2019

Study of the origin of nondisjunction in a family with two cases of Down syndrome using cytogenetic and molecular polymorphisms

artículo científico publicado en 1990

Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques

artículo científico publicado en 1991

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

artículo científico publicado en 2001

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies

artículo científico publicado en 2015

TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila

artículo científico publicado en 2013

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

artículo científico publicado en 2010

TMEM106B a novel risk factor for frontotemporal lobar degeneration

artículo científico publicado en 2011

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

artículo científico publicado en 2014

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

artículo científico publicado en 2011

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

artículo científico publicado en 2014

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe

artículo científico publicado en 2003

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

artículo científico publicado en 2005

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval

artículo científico publicado en 2002

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

artículo científico publicado en 2018

The -491 A/T polymorphism in the regulatory region of the apolipoprotein E gene and early-onset Alzheimer's disease.

artículo científico publicado en 1998

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

artículo científico publicado en 2013

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

artículo científico publicado en 2015

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

artículo científico publicado en 2010

The Cerebrospinal Fluid Aβ1-42/Aβ1-40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer's Disease in a Clinical Setting

artículo científico publicado en 2017

The Cerebrospinal Fluid Neurogranin/BACE1 Ratio is a Potential Correlate of Cognitive Decline in Alzheimer's Disease

artículo científico publicado en 2016

The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1.

artículo científico publicado en 1988

The EMIF-AD Multimodal Biomarker Discovery study: design, methods and cohort characteristics.

artículo científico publicado en 2018

The Genetics of C9orf72 Expansions

artículo científico publicado en 2017

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

artículo científico publicado en 1999

The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease.

artículo científico publicado en 2001

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

artículo científico publicado en 1999

The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years.

artículo científico publicado en 2005

The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

scientific article published on 06 August 2019

The alpha2-macroglobulin gene in AD: a population-based study and meta-analysis

artículo científico publicado en 2000

The apolipoprotein E epsilon 2 allele is associated with an increased risk of early-onset Alzheimer's disease and a reduced survival.

artículo científico publicado en 1995

The apolipoprotein E epsilon 4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations.

artículo científico publicado en 1994

The corticotropin-releasing hormone binding protein is associated with major depression in a population from Northern Sweden

artículo científico publicado en 2003

The cystatin C polymorphism is not associated with early onset Alzheimer's disease.

artículo científico publicado en 2001

The dopamine D4 receptor gene 48-base-pair-repeat polymorphism and mood disorders: a meta-analysis

artículo científico publicado en 2005

The effect of APOE on dementia is not through atherosclerosis: the Rotterdam Study

scientific article published on 01 October 1999

The future of genetic research on neurodegeneration

artículo científico publicado en 2010

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample

artículo científico publicado en 2002

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

article

The genetic landscape of Alzheimer disease: clinical implications and perspectives

artículo científico publicado en 2016

The genetics and neuropathology of frontotemporal lobar degeneration

artículo científico publicado en 2012

The genetics of dementia with Lewy bodies: what are we missing?

artículo científico publicado en 2012

The genotype 2/2 of the presenilin-1 polymorphism is decreased in Spanish early-onset Alzheimer's disease

scientific article published on 01 May 1997

The impact of APOE on myocardial infarction, stroke, and dementia: the Rotterdam Study

artículo científico publicado en 2004

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

artículo científico publicado en 2012

The pericentromeric 21 DNA marker pGSM21 (D21S13) contains an expressed HTF island

artículo científico publicado en 1990

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

artículo científico publicado el 1 de junio de 1992

The presenilin genes: a new gene family involved in Alzheimer disease pathology

artículo científico publicado en 1996

The pursuit of susceptibility genes for Alzheimer's disease: progress and prospects

scientific article published on 18 January 2010

The reactions of mercurated pyrimidine nucleotides with thiols and with hydrogen sulfide ⬇️

artículo científico publicado el 1 de junio de 1978

The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics

scientific article published on 22 March 2019

The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

artículo científico publicado en 2011

Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins

artículo científico publicado en 2002

Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility

artículo científico publicado en 2000

Trinucleotide repeat expansions: do they contribute to bipolar disorder?

artículo científico publicado en 2001

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

artículo científico publicado en 1996

Two polymorphic loci are detected simultaneously by probe CARLP II8.2 [D10S21] on chromosome 10.

artículo científico publicado en 1988

Unique sequence homology in the pericentromeric regions of the long arms of chromosomes 13 and 21.

artículo científico publicado en 1992

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

artículo científico publicado en 2003

Validation of the Erlangen Score Algorithm for Differential Dementia Diagnosis in Autopsy-Confirmed Subjects

Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's Disease

article

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations

scientific article published on 01 November 2000

Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients

scientific article published on 01 October 2006

WT1 mutation in malignant mesothelioma and WT1 immunoreactivity in relation to p53 and growth factor receptor expression, cell-type transition, and prognosis

artículo científico publicado en 1997

X-linkage in bipolar illness

artículo científico publicado en 1991

YAC fragmentation with repetitive and single-copy sequences: detailed physical mapping of the presenilin 1 gene on chromosome 14.

artículo científico publicado en 1999

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

artículo científico publicado en 2004

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

artículo científico publicado en 2013

novoSNP, a novel computational tool for sequence variation discovery

artículo científico publicado en 2005

sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheimer's disease and associate with neuronal injury markers

artículo científico publicado en 2016

Lista de obras de Christine Van Broeckhoven

-Synuclein gene duplications in sporadic Parkinson disease

18F-FDG PET, the early phases and the delivery rate of 18F-AV45 PET as proxies of cerebral blood flow in Alzheimer's disease: Validation against 15O-H2O PET

242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread ⬇️

5-HT2a receptor polymorphism gene in bipolar disorder and harm avoidance personality trait

71st ENMC International Workshop, 6th workshop of the European Charcot-Marie-Tooth disease consortium: hereditary recurrent focal neuropathies, 24-25 September 1999, Soestduinen, the Netherlands

A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42.

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

A Contiguous Physical Map of the Pericentromeric Region of Chromosome 21q between D21Z1 and D21S13E

A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM

A beta A4 amyloid precursor protein gene and Alzheimer's disease

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

A chromosome 18 genetic linkage study in three large Belgian pedigrees with bipolar disorder

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy ⬇️

A high frequency EcoRI RFLP detected at the D21S13 locus

A highly polymorphic locus is detected by probe CARLP II6.3 [D5S88]

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

A new (CA)nrapeat polymorphism at the D21S13E locus ⬇️

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

A novel Alzheimer disease locus located near the gene encoding tau protein.

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

A novel GABRG2 mutation associated with febrile seizures

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

A polymorphic locus [D1S88] is detected by probe LA01.41 on chromosome 1p.

A polymorphic locus [D21S144] is detected by probe pVC12 on chromosome 21.

A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease

A rare MspI RFLP of the DMD probe p20 (DXS269)

A second family with autosomal dominant burning feet syndrome

A study of the SORL1 gene in Alzheimer's disease and cognitive function

A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function

A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3.

ALS Genes in the Genomic Era and their Implications for FTD.

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

APOE and Lipid Level Synergy Effects on Declarative Memory Functioning in Adulthood

APOE and the risk of PD with or without dementia in a population-based study

APOE epsilon4 and Alzheimer's disease: positive association in a Colombian clinical series and review of the Latin-American studies

APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease.

APOE genotyping in differential diagnosis of Alzheimer's disease

APOE ε4 is associated with longer telomeres, and longer telomeres among ε4 carriers predicts worse episodic memory

APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease.

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers

Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome

Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family ⬇️

Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium

Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study

Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia

Alpha-synuclein repeat variants and survival in Parkinson's disease

Altered deactivation in individuals with genetic risk for Alzheimer's disease

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.

Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites

Alzheimer's disease associated presenilin 1 interacts with HC5 and ZETA, subunits of the catalytic 20S proteasome

Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression.

Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)

Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease

Amyloid pathology influences aβ1-42 cerebrospinal fluid levels in dementia with lewy bodies

Amyloid precursor protein gene mutation in early-onset Alzheimer's disease.

Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation

Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease

Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins

An informative MspI polymorphism detected at the D21S16 locus

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.