Lista de obras - Didier Hannequin - Dominio Público Uruguay

A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding

artículo científico publicado en 2014

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

artículo científico publicado en 2014

A diagnosis of idiopathic basal ganglia calcification in an 82-year-old man.

artículo científico publicado en 2013

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

artículo científico publicado en 2012

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

artículo científico publicado en 2004

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

artículo científico publicado en 2017

A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk

artículo científico publicado en 2008

A response to the letter by Oliveira et al.

artículo científico publicado en 2012

A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism

scientific article published on 01 May 2003

A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease

artículo científico publicado en 2009

ABCA7 rare variants and Alzheimer disease risk

artículo científico publicado en 2016

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

artículo científico publicado en 2016

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

artículo científico publicado en 2006

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

artículo científico publicado en 2017

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

article

Agnosia for mirror stimuli: a new case report with a small parietal lesion

artículo científico publicado en 2014

Alleviation of off-period dystonia in Parkinson disease by a microlesion following subthalamic implantation

artículo científico publicado en 2010

Amyloid imaging with AV45 ((18)F-florbetapir) in a cognitively normal AβPP duplication carrier

scientific article published on 01 January 2012

Amyloid-related imaging abnormalities in AβPP duplication carriers

artículo científico publicado en 2013

Amyloid-β protein precursor gene expression in alzheimer's disease and other conditions

scientific article published on 01 January 2012

An Autopsy Case of Amyotrophic Lateral Sclerosis with Waldenström Macroglobulinemia and Anti-MAG Gammopathy

artículo científico publicado en 2011

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

article

Association between the extended tau haplotype and frontotemporal dementia.

artículo científico publicado en 2002

Association study of the GAB2 gene with the risk of developing Alzheimer's disease

artículo científico publicado en 2008

Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease

artículo científico publicado en 2008

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

artículo científico publicado en 2004

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

Awareness of disease state without explicit knowledge of memory failure in transient global amnesia.

artículo científico publicado en 2012

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques

artículo científico publicado en 2006

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing

artículo científico publicado en 2013

CSF AD BIOMARKERS IN MEMORY CLINIC PATIENTS: THE EP.L.M.FR STUDY

Can we remember future actions yet forget the last two minutes? Study in transient global amnesia

artículo científico publicado en 2011

Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene

artículo científico publicado en 2006

Clinical and genetic characteristics of late-onset Huntington's disease

artículo científico publicado en 2018

Cognitive impairment after cerebral venous thrombosis: a two-center study

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

artículo científico publicado en 2008

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

artículo científico publicado en 2014

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

artículo científico publicado en 2017

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

article

Dementia in middle-aged patients with schizophrenia

artículo científico publicado en 2014

Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia.

artículo científico publicado en 2006

Development and validation of the random walk algorithm: application to the classification of diffuse heterogeneity in brain SPECT perfusion images

artículo científico publicado en 2008

Dissociating atrophy and hypometabolism impact on episodic memory in mild cognitive impairment

artículo científico publicado en 2003

Early onset dementia: characteristics in a large cohort from academic memory clinics.

artículo científico publicado en 2011

Early verbal fluency decline after STN implantation: is it a cognitive microlesion effect?

artículo científico publicado en 2012

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

artículo científico publicado en 2018

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

artículo científico publicado en 2012

Evidence of bilateral temporal lobe involvement in primary progressive aphasia: a SPECT study.

artículo científico publicado en 2003

Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment

artículo científico publicado en 2017

Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin

artículo científico publicado en 2014

FDG-PET measurement is more accurate than neuropsychological assessments to predict global cognitive deterioration in patients with mild cognitive impairment

artículo científico

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis

article

Frontal Assessment Battery is a marker of dorsolateral and medial frontal functions: A SPECT study in frontotemporal dementia

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Frontotemporal dementia phenotype associated with MAPT gene duplication

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

artículo científico publicado en 2013

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

IMPACT OF CEREBROSPINAL FLUID BIOMARKERS OF ALZHEIMER'S DISEASE IN CLINICAL PRACTICE: A MULTICENTRIC STUDY

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

artículo científico publicado en 2016

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

artículo científico publicado en 2000

Impaired functional differentiation for categories of objects in the ventral visual stream: A case of developmental visual impairment

artículo científico publicado en 2015

Implication of the Immune System in Alzheimer's Disease: Evidence from Genome-Wide Pathway Analysis

article

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

artículo científico publicado en 2006

Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?

artículo científico publicado en 2008

Is the saitohin gene involved in neurodegenerative diseases?

artículo científico publicado en 2002

Is the urea cycle involved in Alzheimer's disease?

artículo científico publicado en 2010

Just do it! How performing an action enhances remembering in transient global amnesia

artículo científico publicado en 2013

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

artículo científico publicado en 2011

Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease?

artículo científico publicado en 2015

Long-term follow-up of acute partial transverse myelitis.

artículo científico publicado en 2012

Low Prevalence and Clinical Effect of Vascular Risk Factors in Early-Onset Alzheimer's Disease

artículo científico publicado en 2017

MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype

artículo científico publicado en 2013

Microangiopathy in primary familial brain calcification: Evidence from skin biopsies

artículo científico publicado en 2017

Microsubthalamotomy effect at day 3: screening for determinants

artículo científico publicado en 2009

Microsubthalamotomy: an immediate predictor of long-term subthalamic stimulation efficacy in Parkinson disease

artículo científico publicado en 2008

Mirrored and rotated stimuli are not the same: A neuropsychological and lesion mapping study

artículo científico publicado en 2016

Movement disorders and Creutzfeldt-Jakob disease: a review

artículo científico publicado en 2005

Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

artículo científico publicado en 2015

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

artículo científico publicado en 2012

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

artículo científico publicado en 2007

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

artículo científico publicado en 2013

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

artículo científico publicado en 2007

Neurite density is reduced in the presymptomatic phase of disease

artículo científico publicado en 2018

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

artículo científico publicado en 2016

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

artículo científico publicado en 2015

No replication of genetic association between candidate polymorphisms and Alzheimer's disease.

artículo científico publicado en 2009

No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease.

artículo científico publicado en 2003

Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

article by Gaël Nicolas et al published 7 March 2014 in Journal of Molecular Neuroscience

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

artículo científico publicado en 2013

Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.

artículo científico publicado en 2009

Phenotype associated with APP duplication in five families

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

artículo científico publicado en 2013

Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease.

artículo científico publicado en 2002

Progranulin null mutations in both sporadic and familial frontotemporal dementia

artículo científico publicado en 2007

Psychosis revealing familial idiopathic basal ganglia calcification

artículo científico publicado en 2012

Quality of life and brain damage after microsurgical clip occlusion or endovascular coil embolization for ruptured anterior communicating artery aneurysms: neuropsychological assessment

artículo científico publicado en 2009

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

artículo científico publicado en 2011

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

artículo científico publicado en 2011

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

artículo científico publicado en 2017

Recurrent diplopia over a 30-year period: natural history of a Lewis and Sumner syndrome

artículo científico publicado en 2012

Relevance of Follow-Up in Patients with Core Clinical Criteria for Alzheimer Disease and Normal CSF biomarkers

artículo científico publicado en 2018

Relevant category-specific effect on naming in Alzheimer's disease

artículo científico publicado en 2009

Right ventral frontal hypometabolism and abnormal sense of self in a case of disproportionate retrograde amnesia

artículo científico

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

artículo científico publicado en 2013

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

artículo científico publicado en 2015

Seizures in dominantly inherited Alzheimer disease

artículo científico publicado en 2016

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

artículo científico publicado en 2003

Speech therapy of dysarthria in Parkinson's disease

artículo científico publicado en 2003

Study of thyroid hormone receptor alpha gene polymorphisms on Alzheimer's disease

artículo científico publicado en 2009

Systematic Analysis of Candidate Genes for Alzheimer's Disease in a French, Genome-Wide Association Study

article

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

artículo científico

TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.

artículo científico publicado en 2013

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 French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers

article

Treatment of anterior communicating artery aneurysms: complementary aspects of microsurgical and endovascular procedures

scientific article published on 01 July 2003

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

artículo científico publicado en 2005

Utility of CSF biomarkers in psychiatric disorders: a national multicentre prospective study

artículo científico publicado en 2016

Validation of the superior interhemispheric approach for tuberculum sellae meningioma: clinical article

artículo científico publicado en 2012

Visual agnosia and posterior cerebral artery infarcts: an anatomical-clinical study.

artículo científico publicado en 2012

Who needs cerebrospinal biomarkers? A national survey in clinical practice

artículo científico publicado en 2014

[APP duplication causes autosomal dominant Alzheimer disease with cerebral amyloid angiopathy]

artículo científico publicado en 2006

[Confusional state and disturbances of consciousness].

artículo científico publicado en 2006

[Delirium, depression, dementia in the elderly]

artículo científico publicado en 2005

[Familial forms of Alzheimer's disease]

artículo científico publicado en 2003

[Semiology of language]

scientific article published on 01 February 2003

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes

artículo científico publicado en 2014

Lista de obras de Didier Hannequin

A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

A diagnosis of idiopathic basal ganglia calcification in an 82-year-old man.

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk

A response to the letter by Oliveira et al.

A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism

A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease

ABCA7 rare variants and Alzheimer disease risk

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

Agnosia for mirror stimuli: a new case report with a small parietal lesion

Alleviation of off-period dystonia in Parkinson disease by a microlesion following subthalamic implantation

Amyloid imaging with AV45 ((18)F-florbetapir) in a cognitively normal AβPP duplication carrier

Amyloid-related imaging abnormalities in AβPP duplication carriers

Amyloid-β protein precursor gene expression in alzheimer's disease and other conditions

An Autopsy Case of Amyotrophic Lateral Sclerosis with Waldenström Macroglobulinemia and Anti-MAG Gammopathy

Analysis of shared heritability in common disorders of the brain

Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

Association between the extended tau haplotype and frontotemporal dementia.

Association study of the GAB2 gene with the risk of developing Alzheimer's disease

Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

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

Awareness of disease state without explicit knowledge of memory failure in transient global amnesia.

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing

CSF AD BIOMARKERS IN MEMORY CLINIC PATIENTS: THE EP.L.M.FR STUDY

Can we remember future actions yet forget the last two minutes? Study in transient global amnesia

Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene

Clinical and genetic characteristics of late-onset Huntington's disease

Cognitive impairment after cerebral venous thrombosis: a two-center study

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

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

Dementia in middle-aged patients with schizophrenia

Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia.

Development and validation of the random walk algorithm: application to the classification of diffuse heterogeneity in brain SPECT perfusion images

Dissociating atrophy and hypometabolism impact on episodic memory in mild cognitive impairment

Early onset dementia: characteristics in a large cohort from academic memory clinics.

Early verbal fluency decline after STN implantation: is it a cognitive microlesion effect?

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

Evidence of bilateral temporal lobe involvement in primary progressive aphasia: a SPECT study.

Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment

Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin

FDG-PET measurement is more accurate than neuropsychological assessments to predict global cognitive deterioration in patients with mild cognitive impairment

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis

Frontal Assessment Battery is a marker of dorsolateral and medial frontal functions: A SPECT study in frontotemporal dementia

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

Frontotemporal dementia phenotype associated with MAPT gene duplication

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

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

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

IMPACT OF CEREBROSPINAL FLUID BIOMARKERS OF ALZHEIMER'S DISEASE IN CLINICAL PRACTICE: A MULTICENTRIC STUDY

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

Impaired functional differentiation for categories of objects in the ventral visual stream: A case of developmental visual impairment

Implication of the Immune System in Alzheimer's Disease: Evidence from Genome-Wide Pathway Analysis

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?

Is the saitohin gene involved in neurodegenerative diseases?

Is the urea cycle involved in Alzheimer's disease?

Just do it! How performing an action enhances remembering in transient global amnesia

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease?

Long-term follow-up of acute partial transverse myelitis.

Low Prevalence and Clinical Effect of Vascular Risk Factors in Early-Onset Alzheimer's Disease

MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype

Microangiopathy in primary familial brain calcification: Evidence from skin biopsies

Microsubthalamotomy effect at day 3: screening for determinants

Microsubthalamotomy: an immediate predictor of long-term subthalamic stimulation efficacy in Parkinson disease

Mirrored and rotated stimuli are not the same: A neuropsychological and lesion mapping study