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List of works by Alexandra Durr

2016 in Review and Message from the Editors to our Reviewers

scientific article published on 15 February 2017

2018: Year in Review and Message from the Editors to Our Reviewers

8OHdG is not a biomarker for Huntington disease state or progression

scientific article published on 24 April 2013

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

scientific article published on 28 September 2015

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

scientific article

A Computational Cognitive Biomarker for Early-Stage Huntington's Disease

scientific article published on 12 February 2016

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease

scientific article

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

scientific journal article

A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations

scientific article

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

scientific journal article

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

scientific article published on 11 August 2014

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

scientific article

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

scientific article

A liminal stage after predictive testing for Huntington disease

scientific article published on 13 January 2017

A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.

scientific article

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

scientific article

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

scientific article

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

scientific article published on 6 March 2006

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

scientific article

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

scientific article published on 21 April 2017

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 13 November 2013

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 7 December 2012

A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease

scientific article

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

scientific article published on 9 January 2014

A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia

scientific article published on 3 July 2017

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

scientific article

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

scientific article

Abnormal response to cortical activation in early stages of Huntington disease ⬇️

scientific article published on April 19, 2012

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

scientific article

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

scientific article published in January 2009

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

scientific article

Altered Intracortical T-Weighted/T-Weighted Ratio Signal in Huntington's Disease

Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice

scientific article

Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology

scientific article

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

scientific article published on 17 January 2018

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

scientific article published on October 2013

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity

scientific article published on 10 November 2011

Another Mutation in Cysteine 131 in Protein Kinase Cγ as a Cause of Spinocerebellar Ataxia Type 14

Anticiper le handicap. Les risques psychologiques des tests génétiques ⬇️

Apathy and atrophy of subcortical brain structures in Huntington's disease: A two-year follow-up study

article published in 2018

Are cognitive changes the first symptoms of Huntington's disease? A study of gene carriers

scientific article

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

article

Association between early-onset Parkinson's disease and mutations in the parkin gene

scientific article (publication date: 25 May 2000)

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

scientific article

Auto-Gait

scientific article published on 28 March 2023

Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).

scientific article

Autosomal dominant cerebellar ataxias

scientific article published on 05 May 2011

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes.

scientific article published on 14 June 2018

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

scientific article

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

scientific article published in October 2014

Autosomal recessive cerebellar ataxias with oculomotor apraxia

scientific article published on January 2012

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature

scientific article

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

scientific article published on 24 January 2006

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

scientific article

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

scientific article published on 19 January 2018

Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis

scientific article

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

scientific article

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

scientific article

Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data

scientific article

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Brain Regions Showing White Matter Loss in Huntington's Disease Are Enriched for Synaptic and Metabolic Genes

scientific article

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

scientific article

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

scientific article published in October 2001

CAG repeat size in Huntingtin alleles is associated with cancer prognosis

scientific article

CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients

scientific article

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

scientific article

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

scientific article published on 16 October 2017

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

scientific article published on 12 May 2009

Cerebellar abnormalities in Huntington's disease: a role in motor and psychiatric impairment?

scientific article published on 13 August 2014

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

scientific article published on 19 January 2009

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

scientific article (publication date: December 2003)

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

scientific article

Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study

scientific article

Clinical and genetic abnormalities in patients with Friedreich's ataxia

scientific article

Clinical and genetic aspects of spinocerebellar degeneration

scientific article

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

scientific article

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

scientific article

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

scientific article published in September 2006

Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy

scientific article published on 18 November 2011

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

scientific article published on 22 January 2018

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

scientific article published on 27 July 2020

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

scientific article

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

scientific article

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

scientific article

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Compensation in Preclinical Huntington's Disease: Evidence From the Track-On HD Study

scientific article

Complex relationship between Parkin mutations and Parkinson disease

scientific article

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

scientific article published in February 2009

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

scientific article

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

scientific article published on 24 December 2015

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

scientific article published in May 2007

Corpus callosal atrophy in premanifest and early Huntington's disease

scientific article published on January 2013

Correction of inter-scanner and within-subject variance in structural MRI based automated diagnosing

scientific article published on 29 April 2014

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

scientific article published on 22 December 2020

Critical roles for anterior insula and dorsal striatum in punishment-based avoidance learning

scientific article published in December 2012

Cross-sectional and longitudinal voxel-based grey matter asymmetries in Huntington's disease

scientific article published on 25 October 2017

Current data on the genetic of Parkinson disease

scientific article

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

scientific article published on 04 April 2016

DYT1 mutation in French families with idiopathic torsion dystonia

scientific article

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

scientific article

Deep brain stimulation of the internal pallidum in Huntington's disease patients: clinical outcome and neuronal firing patterns

scientific article published on 14 November 2015

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

scientific article published on 15 June 2016

Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism

scientific article

Depression comorbidity in spinocerebellar ataxia

scientific article

Design optimization for clinical trials in early-stage manifest Huntington's disease

scientific article

Detection of Motor Changes in Huntington's Disease Using Dynamic Causal Modeling

scientific article

Diagnosis of "sporadic" Huntington's disease

scientific article published in March 1995

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease

scientific article published on 26 May 2010

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients

scientific article

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? ⬇️

scientific article published on June 1, 2012

ELOVL5 mutations cause spinocerebellar ataxia 38

scientific article

Early alterations of brain cellular energy homeostasis in Huntington disease models

journal article published in 2012

Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression

scientific article

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A

scientific article

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.

scientific article published in November 2008

Effectiveness of anti-psychotics and related drugs in the Huntington French-speaking group cohort

scientific article (publication date: 2014)

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

scientific article published on 26 February 2018

Enjeux de la médecine prédictive en neurogénétique : quelle place pour l'homme ?

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

scientific article published on 14 October 2005

Evaluation of multi-modal, multi-site neuroimaging measures in Huntington's disease: Baseline results from the PADDINGTON study

scientific article

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.

scientific article published on 20 November 2009

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

scientific article

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

scientific article published on 2 June 2009

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

scientific article published on 10 November 2006

Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy

scientific article published on 9 January 2018

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

scientific article published on 11 July 2016

Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.

scientific article published on March 1998

FXTAS: new insights and the need for revised diagnostic criteria

scientific article published on 17 October 2012

Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study

scientific article

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease

scientific article

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

scientific article published on 26 December 2017

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

scientific article

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

scientific article published on November 2005

G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome ⬇️

scientific article published on April 1, 2013

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

scientific article published on 3 April 2015

Gender equality in Machado–Joseph disease

article published in 1995

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy

scientific article

Genetics of movement disorders

scientific article published on August 1996

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

scientific article published on 17 November 2010

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

scientific article

Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease

scientific article (publication date: December 2004)

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

scientific article

Hereditary ataxias and paraparesias

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

scientific article

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

scientific article

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity

scientific article published in May 2006

Hereditary spastic paraplegias: an update

scientific article

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

scientific article published on 7 September 2016

Heterozygous OPA1 mutations in Behr syndrome

scientific article

Homozygosity in Huntington's disease

scientific article published in February 1999

How much phenotypic variation can be attributed to parkin genotype?

scientific article

Huntington's disease alters human neurodevelopment

scientific article published on 16 July 2020

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

scientific article published on 6 May 2003

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.

scientific article published on 8 March 2013

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

scientific article published on 19 June 2017

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

scientific article

In vivo characterization of white matter pathology in premanifest huntington's disease

scholarly article by Jiaying Zhang et al published October 2018 in Annals of Neurology

In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7

scientific article

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

scientific article published in April 2009

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

Is DRPLA also linked to 14q?

scientific article

Is non-recognition of choreic movements in Huntington disease always pathological?

scientific article published on 21 December 2012

Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease?

scientific article published on November 2008

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

scientific article

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

scientific article

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

scientific article published on 6 December 2013

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans

scientific article published on March 2007

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

scientific article published in August 2005

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

scientific article published on February 2006

Large-scale brain network abnormalities in Huntington's disease revealed by structural covariance

scientific article

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

scientific article published on 14 October 2010

Linkage disequilibrium at the SCA2 locus

scientific article

Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon

scientific article published in June 1997

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

scientific article published on 11 September 2015

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Long-term outcome of presymptomatic testing in Huntington disease

scientific article

Longitudinal Diffusion Tensor Imaging Shows Progressive Changes in White Matter in Huntington's Disease

scientific article published on December 2015

Longitudinal changes in functional connectivity of cortico-basal ganglia networks in manifests and premanifest huntington's disease

scientific article published on 12 July 2016

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

scientific article published on 17 June 2015

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

scientific article

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

scientific article

Low cancer prevalence in polyglutamine expansion diseases

scientific article published on 15 February 2017

Low disease risk in relatives of north african lrrk2 Parkinson disease patients ⬇️

scientific article published on September 21, 2010

Mapping cortico-striatal connectivity onto the cortical surface: a new tractography-based approach to study Huntington disease

scientific article

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

scientific article

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

scientific article

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

scientific article published on 22 February 2018

Medication Use in Early-HD Participants in Track-HD: an Investigation of its Effects on Clinical Performance

scientific article published on 11 January 2016

Mental deficiency in three families with SPG4 spastic paraplegia

scientific article published on 24 October 2007

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants

scientific article

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

scientific article

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

scientific article published on 22 December 2016

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

scientific article

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

scientific article published on February 1998

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

scientific article published in May 1997

Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).

scientific article published in December 1999

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

scientific article

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

scientific article

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

scientific article

Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia

scientific article published in March 2005

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation

scientific article

Mutations in KCND3 cause spinocerebellar ataxia type 22.

scientific article

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

scientific article published on 13 December 2007

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

scientific article published on 18 February 2007

Mutations in TGM6 induce the unfolded protein response in SCA35.

scientific article

Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians

scientific article

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease

scientific article

Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa

scientific article published on January 2011

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

scientific article

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

scientific article (publication date: October 2002)

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Natural biological variation of white matter microstructure is accentuated in Huntington's disease

scientific article published on 22 April 2018

Natural variation in sensory-motor white matter organization influences manifestations of Huntington's disease

scientific article published in August 2016

Neuroendocrine disturbances in Huntington's disease

scientific article

Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis

scientific article

Neurofilament light protein in blood predicts regional atrophy in Huntington disease

scientific article

Neuropsychiatry and White Matter Microstructure in Huntington's Disease

scientific article

New autosomal recessive cerebellar ataxias with oculomotor apraxia

scientific article

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

scientific article published in November 2005

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

scientific article published on 20 August 2015

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

scientific article published in June 2013

Nocturnal agitation in Huntington disease is caused by arousal-related abnormal movements rather than by rapid eye movement sleep behavior disorder

scientific article

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force

scientific article published in May 2017

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

scientific article published on April 2016

Nonataxia symptoms in Friedreich Ataxia

Nuclear inclusions in spinocerebellar ataxia type 1.

scientific article

Operationalizing compensation over time in neurodegenerative disease

scientific article published on 23 February 2017

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects

scientific article published on 14 February 2001

PARK11 is not linked with Parkinson's disease in European families

article

PARK6 is a common cause of familial parkinsonism

scientific article

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

scientific article

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

scientific article published on 19 December 2013

Parkin mutations are frequent in patients with isolated early-onset parkinsonism

scientific article published in June 2003

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

scientific article

Personality and Neuropsychological Profiles in Friedreich Ataxia

scientific article

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

scientific article (publication date: July 2008)

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

scientific article published on 28 October 2013

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

scientific article published on 8 December 2017

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

scientific article published on 26 October 2020

Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data

scientific article

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

scientific article

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data

scientific article

Prenatal testing in Huntington disease: after the test, choices recommence

scientific article

Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia

scientific article published in August 2003

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

scientific article published on December 2016

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients

scientific article

Quality of life in Huntington's disease: a comparative study investigating the impact for those with pre-manifest and early manifest disease, and their partners

scientific article

Quantifiable evaluation of cerebellar signs in children

scientific article published on 25 February 2015

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

scientific article published in February 2011

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

scientific article published on 9 September 2011

Rapid eye movement sleep disturbances in Huntington disease

scientific article

Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.

scientific article published on January 2013

Recent advances in hereditary spastic paraplegia

scientific article

Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.

scientific article published in June 1994

Recommendations for the Use of Automated Gray Matter Segmentation Tools: Evidence from Huntington's Disease

scientific article

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

scientific article

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation

scientific article published on 23 September 2015

Reliability and factor structure of the Short Problem Behaviors Assessment for Huntington's disease (PBA-s) in the TRACK-HD and REGISTRY studies

scientific article

Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients

scientific article

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

scientific article

Reply: Updated frequency analysis of spinocerebellar ataxia in China

scientific article published on 12 February 2018

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family

scientific article

SCA13 causes dominantly inherited non-progressive myoclonus ataxia

scientific article

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

scientific article

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

scientific article published on 31 May 2017

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

scientific article

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

scientific article

SYNE1 mutations in autosomal recessive cerebellar ataxia

scientific article

Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.

scientific article

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

scientific article

Selective vulnerability of Rich Club brain regions is an organizational principle of structural connectivity loss in Huntington's disease

scientific article

Self-rated health status in spinocerebellar ataxia--results from a European multicenter study

scientific article

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

scientific article

Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes

scientific article published on May 1995

Short-interval observational data to inform clinical trial design in Huntington's disease

scientific article

Spastic Paraplegia 11

scientific article

Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease

scientific article published on February 2002

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

article

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

scientific article

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

scientific article (publication date: November 1999)

Spectrin mutations cause spinocerebellar ataxia type 5.

scientific article

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

scientific article (publication date: March 2000)

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

scientific article

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions

scientific article published in May 1998

Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings

scientific article published in March 2012

Spinocerebellar ataxia with mental retardation (SCA13).

scientific article

Spinocerebellar ataxia with sensory neuropathy (SCA25)

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

Structural and functional brain network correlates of depressive symptoms in premanifest Huntington's disease

scientific article

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

scientific article published in January 2007

Survival End Points for Huntington Disease Trials Prior to a Motor Diagnosis

scientific article

Survival and severity in dominant cerebellar ataxias

scientific article

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

scientific article published on 13 March 2018

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

scientific article

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

Testing a longitudinal compensation model in premanifest Huntington's disease

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

scientific article

The Huntington disease protein accelerates breast tumour development and metastasis through ErbB2/HER2 signalling

scientific article

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

scientific article

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

scientific article

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

scientific article published on 13 February 2013

The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease

scientific article

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

scientific article

The impact of occipital lobe cortical thickness on cognitive task performance: An investigation in Huntington's Disease

scientific article published on 28 October 2015

The impact of rare variants in FUS in essential tremor

scientific article published on 28 January 2015

The impact of single-nucleotide polymorphisms (SNPs) in OGG1 and XPC on the age at onset of Huntington disease

scientific article published on 2 July 2013

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

scientific article published on 13 August 2014

The potential of composite cognitive scores for tracking progression in Huntington's disease

scientific article published on January 2014

The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations

scientific article

The structural correlates of functional deficits in early huntington's disease

scientific article

Therapeutic approach in Huntington's disease

scientific article published in January 2008

Topological length of white matter connections predicts their rate of atrophy in premanifest Huntington's disease

scientific article

Tremor-spectrum in spinocerebellar ataxia type 3.

scientific article published on 17 May 2012

Triheptanoin improves brain energy metabolism in patients with Huntington disease

scientific article

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content

scientific article

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scientific article published on 13 August 2012

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

scientific article published on 14 February 2013

Validation of Plasma Branched Chain Amino Acids as Biomarkers in Huntington Disease ⬇️

scientific article published on February 1, 2011

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

scientific article published on 3 May 2016

Variants associated with Gaucher disease in multiple system atrophy

scientific article

Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.

scientific article published on 22 July 2009

White matter predicts functional connectivity in premanifest Huntington's disease

scientific article published on 16 January 2017

[Predictive testing: presymptomatic diagnosis in neurogenetic disorders].

scientific article published in November 2005

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