A. Dürr

G. Ott, H. Müller-Hermelink, J. Bartek, 1997, Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer.

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

M. Farrer, Y. Agid, P. Pollak, 2001, American journal of human genetics.

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families

Y. Agid, A. Dürr, A. Brice, 1996, Human Genetics.

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

Y. Agid, A. Durr, A. Dürr, 1999, European Journal of Human Genetics.

Clinical and molecular features of spinocerebellar ataxia type 6

Y. Agid, S. Rivaud, A. Dürr, 1997, Neurology.

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

Y. Agid, A. Dürr, A. Brice, 1997, American journal of human genetics.

Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

Y. Agid, A. Durr, A. Dürr, 1995, American journal of human genetics.

SCA2 is not a major locus for ADCA type I in French families.

Y. Agid, A. Dürr, A. Brice, 1995, American journal of medical genetics.

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Y. Agid, M. Ruberg, A. Durr, 1994, American journal of human genetics.

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

A. Dürr, A. Brice, S. Lesage, 2007, Human mutation.

Variants associated with Gaucher disease in multiple system atrophy

J. Trojanowski, S. Gilman, Y. Kuroiwa, 2015, Annals of clinical and translational neurology.

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.

Till-Karsten Hauser, Dagmar Timmann, Kathrin Reetz, 2013, Brain : a journal of neurology.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Jean-François Dartigues, Günther Deuschl, Yoav Ben-Shlomo, 2017, Genome Biology.

The parkin gene and its phenotype

Y. Agid, R. Marconi, M. Breteler, 2001, Neurological Sciences.

The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Y. Agid, R. Marconi, M. Breteler, 2001, Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism

A. Destée, M. Farrer, S. Lincoln, 2003, Neurology.

Second consensus statement on the diagnosis of multiple system atrophy

P Sandroni, P A Low, N Quinn, 2008, Neurology.

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

J. Burgunder, T. Klockgether, A. Dürr, 2014, European journal of neurology.

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Y. Agid, A. Bonnet, M. Vidailhet, 2000, Brain : a journal of neurology.

Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotype

G. Deuschl, M. Vidailhet, A. Kupsch, 2002, Annals of neurology.

The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism

M. Ruberg, A. Dürr, A. Brice, 2008, Movement disorders : official journal of the Movement Disorder Society.

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis

I. König, F. Binkofski, H. Siebner, 2007, Neurogenetics.

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

M. Farrer, L. Warren, R. Uitti, 2006, Archives of neurology.

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

A Dürr, Y Agid, Y. Agid, 1998, Annals of neurology.

Clinical and genetic abnormalities in patients with Friedreich's ataxia.

A Dürr, Y Agid, Y. Agid, 1996, The New England journal of medicine.

Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia

P. Deltenre, P. Avan, A. Dürr, 2018, Clinical Neurophysiology.

Autosomal recessive cerebellar ataxias with oculomotor apraxia.

S. Rivaud-Pechoux, A. Dürr, A. Brice, 2012, Handbook of clinical neurology.

New autosomal recessive cerebellar ataxias with oculomotor apraxia

A. Dürr, A. Brice, I. Ber, 2005, Current neurology and neuroscience reports.

Genetics of movement disorders

A. Dürr, A. Brice, 1996, Current opinion in neurology.

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.

P Trouillas, A Dürr, S J Kish, 1997, Human molecular genetics.

Linkage disequilibrium at the SCA2 locus

T. Klockgether, A. Dürr, A. Brice, 1999, Journal of medical genetics.

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.

Y. Agid, A. Dürr, A. Brice, 1993, Brain : a journal of neurology.

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

Y. Agid, A. Durr, A. Dürr, 1995, Clinical neuroscience.

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

J. Weissenbach, H. Cann, Y. Agid, 1995, American journal of human genetics.

Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.

Y. Agid, A. Dürr, A. Brice, 1993, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

The gene for Machado–Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q

J. Weissenbach, Y. Agid, A. Dürr, 1994, Neurobiology of Disease.

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.

Y. Agid, A. Durr, A. Dürr, 1993, Human molecular genetics.

Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.

Y. Agid, F. Sedel, A. Dürr, 2006, Archives of neurology.

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.

M. McPeek, N. Arnheim, A. Dürr, 1999, Human molecular genetics.

Multifocal enhancing cortical lesions in a patient with Churg-Strauss syndrome

P. Pollak, A. Dürr, A. Brice, 2008, Neurology.

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.

A. Destée, Y. Agid, A. Bonnet, 2007, Archives of neurology.

Frequency of the LRRK2 G2019S Mutation in Siblings with Parkinson’s Disease

M. Ruberg, A. Dürr, A. Brice, 2007, Neurodegenerative Diseases.

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

A. Destée, F. Rousset, Y. Agid, 2008, Neurogenetics.

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

M. Vidailhet, P. Pollak, F. Durif, 2011, Human molecular genetics.

Progressive encephalomyelitis with rigidity and myoclonus: Resolution after thymectomy

P. Pollak, A. Durr, F. Viallet, 2011, Neurology.

Genetic complexity and Parkinson's disease.

Y. Agid, B. Müller-Myhsok, A. Dürr, 1997, Science.

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

Y. Agid, B. Dubois, A. Dürr, 2009, Parkinsonism & related disorders.

Is DRPLA also linked to 14q?

Y. Agid, C. Duyckaerts, A. Dürr, 1994, Nature Genetics.

Autosomal dominant cerebellar ataxia type I in Morocco: presence of the SCA1 and SCA3/MJD mutations

Y. Agid, A. Dürr, A. Brice, 1996 .

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

D. Le Paslier, A. Dürr, A. Brice, 1994, American journal of human genetics.

Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism

Y. Agid, P. Pollak, P. Heutink, 2003, Neurology.

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)

A. Durr, A. Dürr, P. Bross, 2008, Neuroscience.

PRRT2 mutations

M. Vidailhet, P. Burbaud, D. Grabli, 2012, Neurology.

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

S. Tsuji, V. Wong, A. Dürr, 2007, Archives of neurology.

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

M. Ruberg, A. Dürr, P. Ribai, 2006, Neurogenetics.

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

J. Weissenbach, A. Dürr, A. Brice, 2004, Neurogenetics.

Nuclear inclusions in spinocerebellar ataxia type 1

C. Duyckaerts, A. Durr, A. Dürr, 1999, Acta Neuropathologica.

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.

Y. Agid, J. Melki, A. Dürr, 1994, Human molecular genetics.

Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing

B. Davidson, A. Dürr, Kai Wang, 2022, HGG advances.

LOW DISEASE RISK IN RELATIVES OF NORTH AFRICAN LRRK2 PARKINSON DISEASE PATIENTS

M. Vidailhet, P. Pollak, A. Dürr, 2010, Neurology.

[Genetic testing in asymptomatic minors: a survey among French geneticists].

A. Dürr, L. Faivre, C. Thauvin-Robinet, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

M. Vidailhet, A. Dürr, A. Brice, 2007, Archives of neurology.

LRP10 in α-synucleinopathies

A. Destée, Y. Agid, M. Vidailhet, 2018, The Lancet Neurology.

Genetic testing for the spastic paraplegias

A. Dürr, 2008, Neurology.

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

Nicholas W. Wood, Matthew J. Farrer, Vincenzo Bonifati, 1999, Neuroscience Letters.

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

Ronald Melki, Christophe Verny, A. Dürr, 2013, Annals of neurology.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

M. Nalls, T. Wolfsberg, M. Farrer, 2009, The New England journal of medicine.

Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy

Nicholas W. Wood, Albert Ludolph, Gilbert Bensimon, 2009, PloS one.

LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.

P. Pollak, A. Dürr, A. Leutenegger, 2006, The New England journal of medicine.

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

Y. Agid, M. Vidailhet, V. Fraix, 2003, Brain : a journal of neurology.

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.

Y. Agid, R. Marconi, B. Oostra, 1999, Human molecular genetics.

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

Janel O. Johnson, D. Hernandez, A. Singleton, 2011, Archives of neurology.

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

Bonifati, N W Wood, A Dürr, 2000, The New England journal of medicine.

Diagnosis of “sporadic” Huntington's disease

Y. Agid, B. Pillon, A. Dürr, 1995, Journal of the Neurological Sciences.

Association study between iron-related genes polymorphisms and Parkinson's disease

Y. Agid, A. Bonnet, A. Dürr, 2002, Journal of Neurology.

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

Yves Agid, Jean-Louis Mandel, Gaël Yvert, 1996, Nature Genetics.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2015, JAMA neurology.

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

M. Ruberg, A. Durr, A. Dürr, 1998, Human molecular genetics.

LRRK2: a link between familial and sporadic Parkinson's disease?

A. Dürr, A. Brice, S. Lesage, 2007, Pathologie-biologie.

Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.

A. Dürr, A. Leutenegger, A. Brice, 2006, Archives of neurology.

Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

Stéphane Thobois, Yves Agid, Pablo Ibáñez, 2006, Brain : a journal of neurology.

Complex relationship between Parkin mutations and Parkinson disease.

Jean-François Deleuze, Vincenzo Bonifati, Thomas Gasser, 2002, American journal of medical genetics.

Spinocerebellar ataxia type 10 in the French population

T. Ashizawa, A. Dürr, A. Brice, 2002, Annals of neurology.

Familial Herpes Simplex Encephalitis

T. Ashizawa, A. Dürr, A. Brice, 2002 .

Spinocerebellar ataxias caused by polyglutamine expansions.

A. Dürr, A. Brice, G. Stevanin, 2002, Advances in experimental medicine and biology.

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

Y. Agid, M. Ruberg, G. Yvert, 1997, Nature Genetics.

Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias

A. Durr, A. Dürr, C. Goizet, 2002, Neurology.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Denis C. Bauer, Annelot M. Dekker, Ashley R. Jones, 2017, Nature Communications.

Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease

A Dürr, Y Agid, Y. Agid, 2004, The Lancet.

Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.

A Dürr, Y Agid, Y. Agid, 2004, Lancet.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

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

P. Pollak, Nir Giladi, N. Hattori, 2010, Human molecular genetics.

Akt is altered in an animal model of Huntington's disease and in patients

A. Dürr, A. Brice, N. Déglon, 2005, The European journal of neuroscience.

Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease

C. Frost, R. Roos, S. Tabrizi, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Visual Working Memory Impairment in Premanifest Gene-Carriers and Early Huntington's Disease.

R. Roos, S. Tabrizi, B. Leavitt, 2012, Journal of Huntington's disease.

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

K. Dujardin, A. Destée, L. Buée, 2014, Brain : a journal of neurology.

Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia.

M. Komajda, M. Koenig, A. Dürr, 1997, Circulation.

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

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Recent advances in hereditary spastic paraplegia

A. Dürr, A. Brice, C. Tallaksen, 2001, Current opinion in neurology.

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

A. Dürr, A. Leutenegger, A. Brice, 2005, American journal of human genetics.

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p

A. Dürr, A. Brice, G. Stevanin, 2004, Annals of neurology.

Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings

D. Timmann, P. Bauer, L. Schöls, 2012, The Cerebellum.

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

Peter Bauer, Dagmar Timmann, Till-Karsten Hauser, 2010, NeuroImage.

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.

J. Weissenbach, Y. Agid, R. Sherrington, 1996, Human molecular genetics.

Diagnosis and treatment of Friedreich ataxia: a European perspective

J. Schulz, L. Schöls, A. Dürr, 2009, Nature Reviews Neurology.

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

S. Rivaud-Pechoux, M. Koenig, A. Dürr, 2003, Brain : a journal of neurology.

Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings

L. Baliko, C. Globas, D. Timmann, 2008, The Cerebellum.

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

Y. Agid, A. Durr, A. Dürr, 1995, Annals of neurology.

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6

D. Timmann, S. Tezenas du Montcel, A. Durr, 2011, Neurology.

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

A Dürr, Y Agid, E. Hirsch, 1998, Human molecular genetics.

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

Y. Agid, A. Dürr, A. Brice, 1998, Human molecular genetics.

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

C. Broeckhoven, A. Dürr, A. Brice, 1997, Human Genetics.

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

J. Weissenbach, Y. Agid, C. Broeckhoven, 1995, Nature Genetics.

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

Dagmar Nolte, Ulrich Müller, S. Pulst, 2006, Nature Genetics.

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.

A Dürr, Y. Agid, A. Durr, 1995, Brain : a journal of neurology.

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

A. Dürr, P. Ribai, S. Forlani, 2010, Human mutation.

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

Y. Agid, S. Rivaud-Pechoux, M. Koenig, 2004, Brain : a journal of neurology.

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.

H. Zoghbi, S. Tsuji, A. Durr, 1998, American journal of human genetics.

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases

C. Duyckaerts, J. Hauw, A. Dürr, 2003, Neurobiology of Disease.

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

C. Duyckaerts, J. Hauw, G. Yvert, 2002, Brain : a journal of neurology.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2013, Human mutation.

Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease

Y. Agid, P. Pollak, A. Dürr, 2004, Neurology.

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

Miguel Ángel Martínez, M. Farrer, M. Breteler, 2004, Journal of Medical Genetics.

The p.Asp216His TOR1A allele effect is not found in the French population

M. Vidailhet, L. Cif, A. Dürr, 2009, Movement disorders : official journal of the Movement Disorder Society.

Association between caffeine intake and age at onset in Huntington's disease

L. Defebvre, A. Destée, L. Buée, 2013, Neurobiology of Disease.

Predominant dystonia with marked cerebellar atrophy

P. Pollak, A. Durr, A. Dürr, 2006, Neurology.

Pick complex: too simple?; Commentary on “Pick complex and Pick's disease: the nosology of frontal lobe dementia, primary progressive aphasia, and corticobasal ganglionic degeneration” by A. Kertesz *

C. Duyckaerts, A. Dürr, T. Uchihara, 1996, European journal of neurology.

Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia

A. Durr, A. Dürr, C. Goizet, 2002, Journal of medical genetics.

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?

Y. Agid, A. Dürr, A. Brice, 2000, Nature Genetics.

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls

A. Dürr, A. Brice, S. Lesage, 2007, Journal of Medical Genetics.

LINGO1 polymorphisms are associated with essential tremor in Europeans

G. Deuschl, S. Klebe, D. Lorenz, 2010, Movement disorders : official journal of the Movement Disorder Society.

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

G. Deuschl, S. Klebe, D. Lorenz, 2009, European Journal of Human Genetics.

State of the art review: Molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis

T. Klockgether, A. Dürr, S. Bressman, 2003, Movement disorders : official journal of the Movement Disorder Society.

Familial essential tremor and idiopathic torsion dystonia are different genetic entities

A. Dürr, A. Brice, G. Stevanin, 1993, Neurology.

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

A. Dürr, A. Brice, G. Stevanin, 2000, European Journal of Human Genetics.

D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus

Y. Agid, M. Vidailhet, F. Durif, 2000, Annals of neurology.

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

H. Cann, Y. Agid, C. Duyckaerts, 1995, American journal of human genetics.

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

O. Rascol, A. Dürr, A. Brice, 2000, American journal of human genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Autosomal‐dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

Y. Agid, A. Dürr, A. Brice, 1994, Annals of neurology.

ORF 72 repeat expansions are a rare genetic cause of parkinsonism Running head : C 9 ORF 72 repeat expansion in parkinsonism

A. Destée, M. Vidailhet, P. Pollak, 2018 .

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

A. Vighetto, H. Wichmann, C. Duyckaerts, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

CYP2D6 Polymorphism and Parkinson's disease susceptibility

A. Destée, Y. Agid, A. Dürr, 1999, Movement disorders : official journal of the Movement Disorder Society.

Visuospatial Processing De fi cits Linked to Posterior Brain Regions in Premanifest and Early Stage Huntington ’ s Disease

C. Frost, S. Tabrizi, B. Leavitt, 2017 .

Visuospatial Processing Deficits Linked to Posterior Brain Regions in Premanifest and Early Stage Huntington’s Disease

C. Frost, S. Tabrizi, B. Leavitt, 2016, Journal of the International Neuropsychological Society.

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

S. Scherer, C. Marshall, T. Paton, 2015, Brain : a journal of neurology.

Scale for the assessment and rating of ataxia

A. Durr, L. Schöls, T. Schmitz-Hübsch, 2006, Neurology.

Friedreich's ataxia: treatment within reach

A. Dürr, 2002, The Lancet Neurology.

Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations

A. Dürr, I. Arnulf, E. Konofal, 2009, Movement disorders : official journal of the Movement Disorder Society.

Self‐rated health status in spinocerebellar ataxia—Results from a European multicenter study

Paola Giunti, Dagmar Timmann, Sylvia Boesch, 2010, Movement disorders : official journal of the Movement Disorder Society.

Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study

A. Dürr, P. Harper, C. Yapijakis, 2002, European Journal of Human Genetics.

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

M. Vidailhet, A. Vighetto, T. Illig, 2011, Neurology.

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

Y. Agid, P. Pollak, Y. Worbe, 2007, Movement disorders : official journal of the Movement Disorder Society.

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

A. Destée, S. Heath, Y. Agid, 2009, Archives of neurology.

Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study.

Nicolas Costes, Maria-Joao Ribeiro, Stéphane Thobois, 2003, Archives of neurology.

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

M. Ruberg, D. Hannequin, A. Dürr, 2004, Archives of neurology.

The phenotype of “pure” autosomal dominant spastic paraplegia

Y. Agid, A. Dürr, A. Brice, 1994, Neurology.

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

M. Ruberg, A. Dürr, P. Ribai, 2006, Neurology.

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

J. Weissenbach, J. Burgunder, J. Prud'homme, 1996, Brain : a journal of neurology.

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

A. Dürr, A. Brice, C. Georgopoulos, 2002, American journal of human genetics.

Prenatal testing for Huntington's disease: a European collaborative study

A. Dürr, P. Harper, C. Yapijakis, 2002, European Journal of Human Genetics.

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

F. Pasquier, A. Dürr, A. Brice, 2013, Brain : a journal of neurology.

Exonic deletions of FXN and early-onset Friedreich ataxia.

M. Koenig, A. Dürr, A. Brice, 2012, Archives of neurology.

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

J. Weissenbach, A. Durr, A. Dürr, 2000, American journal of human genetics.

Myoclonus–dystonia

A. Durr, A. Dürr, A. Brice, 2008, Neurology.

Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument

R. Fimmers, D. Timmann, M. Küper, 2013, The Cerebellum.

Depression comorbidity in spinocerebellar ataxia

D. Timmann, S. Tezenas du Montcel, L. Schöls, 2011, Movement disorders : official journal of the Movement Disorder Society.

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

Y. Agid, B. Dubois, B. Pillon, 1998, Journal of neurology, neurosurgery, and psychiatry.

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

C. Lautier, A. Dürr, A. Brice, 2008, American journal of human genetics.

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

A. Singleton, M. Farrer, J. Hardy, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

D. Berg, P. Lichtner, B. Oostra, 2005, Journal of Medical Genetics.

Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.

S. Rivaud-Pechoux, M. Koenig, A. Dürr, 2007, Archives of neurology.

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.

Y. Agid, A. Durr, T. Klockgether, 1996, Human molecular genetics.

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

A. Dürr, A. Brice, J. Golmard, 2012, Movement disorders : official journal of the Movement Disorder Society.

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

Paola Giunti, Bart P C van de Warrenburg, Sylvia Boesch, 2006, Movement disorders : official journal of the Movement Disorder Society.

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohort

H. Hendriks, R. Sinke, A. Dürr, 2005, Annals of neurology.

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

Y. Agid, M. Vidailhet, A. Durr, 2001, Neurology.

Genetic Lesions and Their Role in Classification and Progression 19

G. Ott, H. Muller-Hermelink, J. Bartek, 1996 .

Gender equality in Machado–Joseph disease

Y. Agid, A. Dürr, A. Brice, 1995, Nature Genetics.

Identification of VPS35 mutations replicated in French families with Parkinson disease

A. Dürr, A. Brice, S. Lesage, 2012, Neurology.

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

Y. Agid, A. Bonnet, P. Pollak, 2005, Annals of neurology.

Delayed‐onset Friedreich's ataxia revisited

M. Koenig, W. Meissner, A. Eusebio, 2016, Movement disorders : official journal of the Movement Disorder Society.

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

C. van Broeckhoven, A. Dürr, A. Brice, 2001, Brain : a journal of neurology.

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

A. Durr, M. Koenig, A. Dürr, 2007, Neurology.

Frequency of the DYT1 mutation in primary torsion dystonia without family history.

Y. Agid, M. Vidailhet, A. Dürr, 2000, Archives of neurology.

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

A. Dürr, M. Delatycki, P. Giunti, 2013, Brain : a journal of neurology.

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class

A. Ashley-Koch, A. Dürr, D. Marchuk, 2003, Journal of medical genetics.

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

M. Farrer, A. Dürr, A. Brice, 2005, Archives of neurology.

[18F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations

A Dürr, P. Pollak, P. Remy, 2000, Neurology.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2017, Genome Biology.

Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study

Paola Giunti, Bastiaan R. Bloem, Massimo Pandolfo, 2010, The Cerebellum.

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

Y. Agid, A. Dürr, A. Brice, 1995, Journal of medical genetics.

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease

L. Defebvre, L. Buée, A. Dürr, 2009, Neurobiology of Disease.

Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson’s disease

A. Destée, S. Rivaud-Pechoux, P. Damier, 2009, Journal of Medical Genetics.

Ischemic stroke in an adolescent with arterial tortuosity syndrome

A. Durr, A. Dürr, P. Fossati, 2006, Neurology.

[LRRK2 is a major gene in North African parkinsonism].

A. Dürr, A. Brice, S. Lesage, 2006, Medecine sciences : M/S.

C08 Caffeine is a modifier of age at onset in Huntington's disease

L. Defebvre, L. Buée, P. Amouyel, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

A. Dürr, C. Depienne, A. Brice, 2013, European journal of neurology.

Homozygosity in Huntington’s disease

A. Dürr, A. Brice, V. Hahn-Barma, 1999, Journal of medical genetics.

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Sonja W. Scholz, A. Singleton, Y. Kusakabe, 2023, medRxiv.

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

J. Weissenbach, J. Prud'homme, A. Dürr, 2007, Neurology.

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

M. Farrer, B. Müller-Myhsok, A. Dürr, 2005, European Journal of Human Genetics.

Follow-up study of the GIGYF2 gene in French families with Parkinson's disease

P. Damier, F. Viallet, A. Dürr, 2010, Neurobiology of Aging.

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

P. Pollak, F. Viallet, A. Dürr, 2011, Neurology.

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

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2016, American journal of human genetics.

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