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Lista de obras de O. Riess

12q24.33 deletion: Report of a patient with intellectual disability and review of the literature ⬇️

artículo científico publicado el 23 de abril de 2013

14-3-3 protein is a component of Lewy bodies in Parkinson's disease-mutation analysis and association studies of 14-3-3 eta.

artículo científico publicado en 2002

14-3-3 proteins in the nervous system

artículo científico publicado en 2003

A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients

artículo científico publicado en 2011

A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients

artículo científico publicado en 2008

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

artículo científico publicado en 2009

A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats

artículo científico publicado en 2013

A rapid microarray based whole genome analysis for detection of uniparental disomy

artículo científico publicado en 2005

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

artículo científico publicado en 2010

A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats

artículo científico publicado en 2009

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

artículo científico publicado en 2014

ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2

artículo científico publicado en 2010

Activation of AMPK-induced autophagy ameliorates Huntington disease pathology in vitro

artículo científico publicado en 2016

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study

artículo científico

Adult neural precursor cells unaffected in animal models of DYT1 dystonia

artículo científico publicado en 2009

Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7.

artículo científico publicado en 2010

Age-dependent gene expression profile and protein expression in a transgenic rat model of Huntington's disease

scientific article published on 22 October 2008

AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease ⬇️

artículo científico publicado el 1 de febrero de 1998

Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

scholarly article by Daniela Berg et al published 2005 in Movement Disorders

Altered reactivity of central amygdala to GABAAR antagonist in the BACHD rat model of Huntington disease

artículo científico publicado en 2017

Analysis of blood-based gene expression in idiopathic Parkinson disease

artículo científico publicado en 2017

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Association between genetic variants of IL-1beta, IL-6 and TNF-alpha cytokines and cognitive performance in the elderly general population of the MEMO-study

artículo científico publicado en 2007

Atlas of transgenic Tet-Off Ca2+/calmodulin-dependent protein kinase II and prion protein promoter activity in the mouse brain

artículo científico publicado en 2010

Author Correction: Blunting neuroinflammation with resolvin D1 prevents early pathology in a rat model of Parkinson's disease

artículo científico publicado en 2019

Automated behavioral phenotyping reveals presymptomatic alterations in a SCA3 genetrap mouse model

artículo científico publicado en 2012

Automated home cage assessment shows behavioral changes in a transgenic mouse model of spinocerebellar ataxia type 17.

artículo científico publicado en 2013

Automated phenotyping and advanced data mining exemplified in rats transgenic for Huntington's disease

artículo científico publicado en 2014

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3

artículo científico publicado en 2009

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

artículo científico publicado en 2004

B-raf and Ha-ras mutations in chemically induced mouse liver tumors

artículo científico publicado en 2005

Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease.

artículo científico publicado en 2006

Behavioral and in vivo electrophysiological evidence for presymptomatic alteration of prefrontostriatal processing in the transgenic rat model for huntington disease

artículo científico publicado en 2011

Behavioral deficits and striatal DA signaling in LRRK2 p.G2019S transgenic rats: a multimodal investigation including PET neuroimaging

artículo científico publicado en 2014

Blood level of brain-derived neurotrophic factor mRNA is progressively reduced in rodent models of Huntington's disease: restoration by the neuroprotective compound CEP-1347.

artículo científico publicado en 2008

Blunting neuroinflammation with resolvin D1 prevents early pathology in a rat model of Parkinson's disease

scientific article published on 02 September 2019

CAG repeats in Restless Legs syndrome

artículo científico publicado en 2006

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3).

artículo científico publicado en 2012

Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17

artículo científico publicado en 2022

Calpastatin ablation aggravates the molecular phenotype in cell and animal models of Huntington disease

artículo científico publicado en 2018

Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat.

artículo científico publicado en 2016

Cellular and subcellular localization of Huntingtin [corrected] aggregates in the brain of a rat transgenic for Huntington disease

artículo científico publicado en 2007

Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice

artículo científico publicado en 2013

Changes in adult olfactory bulb neurogenesis in mice expressing the A30P mutant form of alpha-synuclein

artículo científico publicado en 2009

Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes

artículo científico publicado en 2010

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

artículo científico publicado en 2003

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

artículo científico publicado en 2006

Complexin-1 and Foxp1 Expression Changes Are Novel Brain Effects of Alpha-Synuclein Pathology

artículo científico publicado en 2014

Correction: Further investigation of phenotypes and confounding factors of progressive ratio performance and feeding behavior in the BACHD rat model of Huntington disease

Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients

artículo científico publicado en 2004

Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis

artículo científico publicado en 2010

Disturbance of iron metabolism in Parkinson's disease -- ultrasonography as a biomarker

artículo científico publicado en 2006

Do CTG expansions at the SCA8 locus cause ataxia?

artículo científico publicado en 2003

Dynamic footprint based locomotion sway assessment in α-synucleinopathic mice using Fast Fourier Transform and Low Pass Filter

artículo científico publicado en 2017

Dynamic footprints of α-synucleinopathic mice recorded by CatWalk gait analysis

artículo científico publicado en 2018

Dynamic nuclear envelope phenotype in rats overexpressing mutated human torsinA protein

Dysregulation of coordinated neuronal firing patterns in striatum of freely behaving transgenic rats that model Huntington's disease

artículo científico publicado en 2009

Dysregulation of gene expression in the striatum of BACHD rats expressing full-length mutant huntingtin and associated abnormalities on molecular and protein levels

artículo científico publicado en 2017

EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts

artículo científico publicado en 2014

Early Alterations in Operant Performance and Prominent Huntingtin Aggregation in a Congenic F344 Rat Line of the Classical CAGn51trunc Model of Huntington Disease

artículo científico publicado en 2018

Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition

article published in the Proceedings of the National Academy of Sciences of the United States of America

Environmental Enrichment Prevents Transcriptional Disturbances Induced by Alpha-Synuclein Overexpression

artículo científico publicado en 2018

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

artículo científico publicado en 2016

Expression mapping of tetracycline-responsive prion protein promoter: digital atlasing for generating cell-specific disease models.

artículo científico publicado en 2006

FDG μPET Fails to Detect a Disease-Specific Phenotype in Rats Transgenic for Huntington's Disease – A 15 Months Follow-up Study

artículo científico publicado en 2015

First German Academy for Further Medical Training on Rare Diseases (FAKSE, http://www.fakse.info)

article

First appraisal of brain pathology owing to A30P mutant alpha-synuclein

artículo científico publicado en 2010

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

artículo científico publicado en 2003

Functional relevance of ceruloplasmin mutations in Parkinson's disease

artículo científico publicado en 2005

Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease

scientific article published on 15 February 2008

Further investigation of phenotypes and confounding factors of progressive ratio performance and feeding behavior in the BACHD rat model of Huntington disease

artículo científico publicado en 2017

Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA.

artículo científico publicado en 2008

Generation of a novel rodent model for DYT1 dystonia

artículo científico publicado en 2012

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease

artículo científico publicado en 2006

Genetic analysis of coding SNPs in blood-brain barrier transporter MDR1 in European Parkinson's disease patients

artículo científico publicado en 2009

Genetic analysis of heme oxygenase-1 (HO-1) in German Parkinson's disease patients

artículo científico publicado en 2009

Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients

artículo científico publicado en 2012

Genetic analysis of the α2-macroglobulin gene in early-and late-onset Parkinsonʼs disease

article

Genetic dissection of familial Parkinson's disease ⬇️

artículo científico publicado el 1 de octubre de 1998

Genetic investigation of the TSPYL1 gene in sudden infant death syndrome

artículo científico publicado en 2006

Genome-wide UPD screening in patients with intellectual disability

artículo científico publicado en 2014

Genome-wide association study reveals genetic risk underlying Parkinson's disease

artículo científico publicado en 2009

Genotype-phenotype relationships in hepatocellular tumors from mice and man.

artículo científico publicado en 2005

Glial A30P alpha-synuclein pathology segregates neurogenesis from anxiety-related behavior in conditional transgenic mice

artículo científico publicado en 2013

Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathies

artículo científico publicado en 2017

HBOC multi-gene panel testing: comparison of two sequencing centers

artículo científico publicado en 2015

Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease

artículo científico publicado en 2003

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

artículo científico publicado en 2012

Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease

scholarly article by Johanna Huttenlocher et al published 17 July 2015 in Human Molecular Genetics

High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease

artículo científico publicado en 2008

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

artículo científico publicado en 2008

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

artículo científico publicado en 2011

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

artículo científico publicado en 2003

Identification and functional dissection of localization signals within ataxin-3.

artículo científico publicado en 2009

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

artículo científico publicado en 2010

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

artículo científico publicado en 2008

Impaired Decision Making and Loss of Inhibitory-Control in a Rat Model of Huntington Disease

scientific article published on 26 October 2016

Impaired regulation of brain mitochondria by extramitochondrial Ca2+ in transgenic Huntington disease rats

artículo científico publicado en 2008

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

artículo científico publicado en 2016

Impulsivity trait in the early symptomatic BACHD transgenic rat model of Huntington disease

artículo científico publicado en 2015

In vivo analysis of cone survival in mice

artículo científico publicado en 2009

In vivo assessment of riluzole as a potential therapeutic drug for spinocerebellar ataxia type 3.

artículo científico publicado en 2016

International Charter of principles for sharing bio-specimens and data

artículo científico publicado en 2015

International Charter of principles for sharing bio-specimens and data.

artículo científico publicado en 2016

Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate ⬇️

artículo científico publicado el 25 de mayo de 2012

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

artículo científico publicado en 2010

LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4.

artículo científico publicado en 2013

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

scientific article published on 01 November 2004

Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients

article

Lactotransferrin Gene Polymorphism Associated with Caries Experience

artículo científico publicado en 2015

Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease.

artículo científico publicado en 2011

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

artículo científico publicado en 2007

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

artículo científico publicado en 2005

Mayer-Rokitansky-Küster-Hauser syndrome discordance in monozygotic twins: matrix metalloproteinase 14, low-density lipoprotein receptor-related protein 10, extracellular matrix, and neoangiogenesis genes identified as candidate genes in a tissue-spe

artículo científico

Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease

artículo científico publicado en 2017

Microarray expression analysis of human dopaminergic neuroblastoma cells after RNA interference of SNCA--a key player in the pathogenesis of Parkinson's disease

artículo científico publicado en 2008

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3

scholarly article by Tina Harmuth published in January 2018

Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.

artículo científico publicado en 2015

Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.

artículo científico publicado en 2016

Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease

scientific article published on 11 January 2007

Modified impact of emotion on temporal discrimination in a transgenic rat model of Huntington disease

artículo científico publicado en 2013

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

artículo científico publicado en 2014

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

artículo científico publicado en 2009

Motor function and dopamine release measurements in transgenic Huntington's disease model rats

artículo científico publicado en 2012

Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma

artículo científico publicado en 2019

Mutation analysis of the neurofilament M gene in Parkinson's disease

artículo científico publicado en 2003

Mutation at the SCA17 locus is not a common cause of primary dystonia

artículo científico publicado en 2004

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) ⬇️

artículo científico publicado el 1 de febrero de 2012

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala

artículo científico publicado en 2012

Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause

artículo científico publicado en 2006

Neurobehavioral tests in rat models of degenerative brain diseases

artículo científico publicado en 2010

Neurodegeneration and motor dysfunction in a conditional model of Parkinson's disease.

artículo científico publicado en 2008

Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease

artículo científico publicado en 2002

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

artículo científico publicado en 2005

Next-generation sequencing in X-linked intellectual disability

artículo científico publicado en 2015

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

artículo científico publicado en 2004

Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence

scientific journal article

Olesoxime suppresses calpain activation and mutant huntingtin fragmentation in the BACHD rat.

artículo científico publicado en 2015

Olfactory neuron-specific expression of A30P α-synuclein exacerbates dopamine deficiency and hyperactivity in a novel conditional model of early Parkinson's disease stages

artículo científico publicado en 2011

Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice

artículo científico publicado en 2013

Overexpression of the calpain-specific inhibitor calpastatin reduces human alpha-Synuclein processing, aggregation and synaptic impairment in [A30P]αSyn transgenic mice

artículo científico publicado en 2014

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism

artículo científico publicado en 2005

Parkinson patient fibroblasts show increased alpha-synuclein expression

artículo científico publicado en 2008

Parkinson's disease: one biochemical pathway to fit all genes?

artículo científico publicado en 2002

Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease

artículo científico publicado en 2010

Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development

artículo científico publicado en 2009

Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient

artículo científico publicado en 2016

Physiological and pathophysiological characteristics of ataxin-3 isoforms

scientific article published in 2019

PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study

artículo científico publicado en 2020

Polyglutamine-induced neurodegeneration in SCA3 is not mitigated by non-expanded ataxin-3: conclusions from double-transgenic mouse models

artículo científico publicado en 2010

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

artículo científico publicado en 2018

Progression-specific genes identified by expression profiling of matched ductal carcinomas in situ and invasive breast tumors, combining laser capture microdissection and oligonucleotide microarray analysis

artículo científico publicado en 2006

Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions

artículo científico publicado en 2002

Protocol and methodology of the Stroke in Young Fabry Patients (sifap1) study: a prospective multicenter European study of 5,024 young stroke patients aged 18-55 years

artículo científico publicado en 2010

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

artículo científico publicado en 2012

Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1

scientific journal article

Reduced impact of emotion on choice behavior in presymptomatic BACHD rats, a transgenic rodent model for Huntington Disease

artículo científico publicado en 2015

Reduction in subventricular zone-derived olfactory bulb neurogenesis in a rat model of Huntington's disease is accompanied by striatal invasion of neuroblasts

artículo científico publicado en 2015

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6 ⬇️

artículo científico publicado el 1 de septiembre de 1997

Regional and subtype selective changes of neurotransmitter receptor density in a rat transgenic for the Huntington's disease mutation

artículo científico publicado en 2005

Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in central and eastern Europe [CFTRdele2,3(21 kb)]

scientific article published on 16 March 2005

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach

artículo científico publicado en 2006

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

artículo científico publicado en 2011

SCA3: neurological features, pathogenesis and animal models

artículo científico publicado en 2008

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage- dependent calcium channel gene ⬇️

artículo científico publicado el 1 de agosto de 1997

SNCA variants are associated with increased risk for multiple system atrophy

artículo científico publicado en 2009

Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra

artículo científico publicado en 2006

Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra

artículo científico publicado en 2003

Screening of mutations in GNAL in sporadic dystonia patients

scientific article published on 09 January 2014

Selective striatal neuron loss and alterations in behavior correlate with impaired striatal function in Huntington's disease transgenic rats

artículo científico publicado en 2006

Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome

artículo científico publicado en 2017

Severely impaired hippocampal neurogenesis associates with an early serotonergic deficit in a BAC α-synuclein transgenic rat model of Parkinson's disease

artículo científico publicado en 2015

Sex differences in a transgenic rat model of Huntington's disease: decreased 17beta-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males

artículo científico publicado en 2008

Silhouette-Length-Scaled Gait Parameters for Motor Functional Analysis in Mice and Rats

artículo científico publicado en 2019

Site-specific ubiquitination of pathogenic huntingtin attenuates its deleterious effects

artículo científico publicado en 2020

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

artículo científico publicado en 2021

Specification of 14-3-3 proteins in Lewy bodies

artículo científico publicado en 2003

Spectrin mutations in spinocerebellar ataxia (SCA).

artículo científico publicado en 2006

Spectrum of phenotypes and genotypes in Parkinson's disease

artículo científico publicado en 2002

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

artículo científico publicado en 2010

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

artículo científico publicado en 2011

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds ⬇️

artículo científico publicado el 1 de enero de 1998

Stem cell quiescence in the hippocampal neurogenic niche is associated with elevated transforming growth factor-beta signaling in an animal model of Huntington disease

artículo científico publicado en 2010

Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies

artículo científico publicado en 2010

Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease

artículo científico publicado en 2016

Systematic data analysis and data mining in CatWalk gait analysis by heat mapping exemplified in rodent models for neurodegenerative diseases

scientific article published on 24 July 2019

The Alteration of Emotion Regulation Precedes the Deficits in Interval Timing in the BACHD Rat Model for Huntington Disease

artículo científico publicado en 2018

The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory

artículo científico publicado en 2017

The BACHD rat model of Huntington disease shows slowed learning in a Go/No-Go-like test of visual discrimination

artículo científico publicado en 2018

The Guanine nucleotide exchange factor kalirin-7 is a novel synphilin-1 interacting protein and modifies synphilin-1 aggregate transport and formation

artículo científico publicado en 2012

The R98Q variation in DJ-1 represents a rare polymorphism

scientific article published on 01 January 2004

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease

artículo científico publicado en 2005

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

artículo científico publicado en 2013

The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect

artículo científico publicado en 2011

The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis

scientific journal article

The proteasomal subunit S6 ATPase is a novel synphilin-1 interacting protein--implications for Parkinson's disease

artículo científico publicado en 2007

The risk of re-identification versus the need to identify individuals in rare disease research

artículo científico publicado en 2016

Therapeutic strategies for Parkinson's disease based on data derived from genetic research

artículo científico publicado en 2003

Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice

artículo científico publicado en 2010

Transgenic rat model of Huntington's disease

artículo científico publicado en 2003

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients ⬇️

artículo científico publicado el 1 de junio de 1995

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

artículo científico publicado en 2002

Two cases of variant late infantile ceroid lipofuscinosis in Jordan

UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays

artículo científico publicado en 2013

Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease

scholarly article

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

artículo científico publicado en 2016

Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein.

artículo científico publicado en 2007

overexpression disturbs hippocampal gene expression trajectories in midlife

article

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