M. Anheim

发表

Neurologic Features in Severe SARS-CoV-2 Infection

S. Kremer, M. Ohana, H. Merdji, 2020, The New England journal of medicine.

FXTAS

M. Vidailhet, P. Pollak, B. Gaymard, 2012, Neurology.

Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation

W. Chung, N. Drouot, C. Blauwendraat, 2020, Annals of neurology.

[Peripheral neuropathies associated with hereditary cerebellar ataxias].

M. Anheim, C. Tranchant, 2011, Revue neurologique.

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

M. Koenig, S. Kremer, I. Namer, 2017, Journal of Neurology.

“Phalanx sign” helps to discriminate MSA-C from idiopathic late onset cerebellar ataxia

M. Anheim, C. Tranchant, T. Wirth, 2022, Journal of Neurology.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2019, Neurology.

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

Hans H. Jung, C. Tilikete, M. Koenig, 2018, JAMA neurology.

XPR1 mutations are a rare cause of primary familial brain calcification

M. Sitbon, D. Campion, D. Hannequin, 2016, Journal of Neurology.

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

M. Vidailhet, B. Gaymard, D. Grabli, 2014, Neurology.

Cecilia BonnetEmmanuelle ApartisMathieu Anheim • Andre P. LegrandJose F. Baizabal-Carvallo • Anne M. BonnetAlexandra DurrMarie Vidailhet

A. Bonnet, M. Vidailhet, A. Durr, 2012 .

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

N. Drouot, P. Bauer, R. Schüle, 2014, Brain : a journal of neurology.

Cerebral vasculitis of medium-sized vessels as a possible mechanism of brain damage in COVID-19 patients

S. Kremer, F. Cotton, M. Anheim, 2020, Journal of Neuroradiology.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

S. Lorenzl, P. Bauer, M. Topcu, 2017, Current medical research and opinion.

Neurologic and neuroimaging findings in patients with COVID-19: A retrospective multicenter study

C. Oppenheim, C. Boutet, N. Pyatigorskaya, 2020 .

Neurologic and neuroimaging ﬁ ndings in patients with COVID-19 A retrospective multicenter study

C. Oppenheim, C. Boutet, N. Pyatigorskaya, 2022 .

Increased diagnostic yield in complex dystonia through exome sequencing.

N. Drouot, P. Burbaud, L. Cif, 2020, Parkinsonism & related disorders.

Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

M. Koenig, P. Calvas, C. Geny, 2016, Human mutation.

MRI dedicated to the emergency department for diplopia or dizziness: a cost-effectiveness analysis

S. Kremer, G. Bierry, J. Godet, 2022, European Radiology.

SCA13 causes dominantly inherited non-progressive myoclonus ataxia.

A. Durr, M. Koenig, M. Anheim, 2017, Parkinsonism & related disorders.

Early Parkinson's Disease Phenotypes Tailored by Personality, Behavior, and Motor Symptoms.

P. Krack, E. Moro, V. Fraix, 2022, Journal of Parkinson's disease.

Evolution of Neuroimaging Findings in Severe COVID-19 Patients with Initial Neurological Impairment: An Observational Study

V. Noblet, S. Kremer, I. Namer, 2022, Viruses.

Brain MRI Findings in Severe COVID-19: A Retrospective Observational Study

Imen Megdiche, Stéphane Kremer, Catherine Oppenheim, 2020, Radiology.

Critical illness-associated cerebral microbleeds for patients with severe COVID-19: etiologic hypotheses

S. Kremer, F. Cotton, J. Helms, 2020, Journal of Neurology.

Fatigue in de novo Parkinson's Disease: Expanding the Neuropsychiatric Triad?

P. Krack, E. Moro, V. Fraix, 2022, Journal of Parkinson's disease.

Coronavirus Disease 2019: Associated Multiple Organ Damage

S. Kremer, M. Ohana, O. Collange, 2020, Open forum infectious diseases.

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

N. Drouot, A. Durr, M. Koenig, 2016, Journal of Neurology.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

V. Fraix, L. Kremer, M. Koenig, 2021, Genetics in Medicine.

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

C. Blackstone, S. Züchner, A. Dürr, 2015, Human molecular genetics.

“Phalanx sign” helps to discriminate MSA-C from idiopathic late onset cerebellar ataxia

M. Anheim, C. Tranchant, T. Wirth, 2022, Journal of Neurology.

Progression of Nigrostriatal Denervation in Cerebellar Multiple System Atrophy

S. Kremer, I. Namer, B. Monga, 2021, Neurology.

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

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

Francois R. Lamy, S. Kremer, C. Cazeneuve, 2022, Journal of Neurology.

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

B. Lhermitte, A. Echaniz-Laguna, C. Marelli, 2021, Journal of Neurology.

Brain MRI of multiple system atrophy of cerebellar type: a prospective study with implications for diagnosis criteria

J. Dietemann, S. Kremer, I. Namer, 2020, Journal of Neurology.

Clonidine GH stimulation test to differentiate MSA from idiopathic late onset cerebellar ataxia: a prospective, controlled study

M. Anheim, C. Tranchant, C. Bonnard, 2020, Journal of Neurology.

[Autosomal recessive cerebellar ataxias].

M. Anheim, 2011, Revue neurologique.

Ataxic variant of Alzheimer’s disease caused by Pro117Ala PSEN1 mutation

D. Campion, D. Hannequin, C. Boulay, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

E. Broussolle, S. Thobois, P. Latour, 2013, Journal of Neurology.

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.

Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison

M. Anheim, S. Kolb, Juan V. Torres Martin, 2020, The Cerebellum.

Progressive encephalomyelitis with rigidity and myoclonus: Resolution after thymectomy

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

Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker

M. Koenig, M. Anheim, C. Tranchant, 2020, Movement disorders : official journal of the Movement Disorder Society.

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

M. Vidailhet, B. Gaymard, D. Grabli, 2017, Scientific Reports.

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

N. Drouot, S. Ferdinandusse, M. Koenig, 2015, European Journal of Human Genetics.

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.

M. Koenig, D. Stoppa-Lyonnet, M. Anheim, 2008, Archives of neurology.

Parkinsonian-Pyramidal syndromes: A systematic review.

M. Anheim, C. Tranchant, M. Koob, 2017, Parkinsonism & related disorders.

SPG11 spastic paraplegia

A. Durr, M. Koenig, A. Brice, 2009, Journal of Neurology.

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

I. Namer, M. Anheim, G. Rudolf, 2014, Journal of Neurology.

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

N. Drouot, S. Dimauro, F. Plewniak, 2008, American journal of human genetics.

Functional classification of ATM variants in ataxia‐telangiectasia patients

T. Dörk, M. Stern, P. Calvas, 2019, Human mutation.

PRRT2 mutations

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

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

C. Tilikete, F. Lamari, V. Deramecourt, 2018, Orphanet Journal of Rare Diseases.

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

P. Krack, W. Meissner, A. Echaniz-Laguna, 2015, Journal of Neurology.

Interest of 123 I-mIBG cardiac tomoscintigraphy coupled with myocardial perfusion in diagnosis of multiple system atrophy

M. Anheim, D. Grucker, C. Tranchant, 2010 .

Author Response: Progression of Nigrostriatal Denervation in Cerebellar Multiple System Atrophy: A Prospective Study

S. Kremer, I. Namer, B. Monga, 2022, Neurology.

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

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

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

N. Drouot, A. Durr, M. Koenig, 2014, JAMA neurology.

Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS)

A. Echaniz-Laguna, M. Anheim, N. Boehm, 2014, Journal of Neurology.

Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset

C. Tilikete, M. Koenig, S. Thobois, 2015, Journal of Neurology.

Limbic Stimulation Drives Mania in STN‐DBS in Parkinson Disease: A Prospective Study

P. Mertens, D. Devos, Anne‐Sophie Rolland, 2022, Annals of neurology.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

A. Durr, J. Bouchard, S. Forlani, 2013, JAMA neurology.

Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6-related juvenile Parkinson's disease.

J. Chelly, M. Anheim, G. Rudolf, 2017, Parkinsonism & related disorders.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Symptomatic paroxysmal dysarthria-ataxia in demyelinating diseases

C. Boulay, M. Anheim, P. Masnou, 2010, Journal of Neurology.

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

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

The inherited cerebellar ataxias: an update

A. Durr, M. Koenig, M. Anheim, 2022, Journal of Neurology.

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

Francois R. Lamy, S. Kremer, C. Cazeneuve, 2022, Journal of Neurology.

MRI dedicated to the emergency department for diplopia or dizziness: a cost-effectiveness analysis

S. Kremer, G. Bierry, J. Godet, 2022, European Radiology.

Movement disorders in mitochondrial diseases.

M. Anheim, C. Tranchant, 2016, Revue neurologique.

Benign hereditary chorea: From benign to serious.

J. Chelly, M. Anheim, V. Laugel, 2020, Revue neurologique (Paris).

Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia.

N. Drouot, D. Guehl, P. Burbaud, 2019, Parkinsonism & related disorders.

A novel heterozygous ANO3 mutation responsible for myoclonic dystonia

E. Broussolle, S. Thobois, J. Chelly, 2019, Journal of the Neurological Sciences.

Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply.

M. Koenig, M. Anheim, C. Tranchant, 2015, JAMA neurology.

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

M. Amador, G. Stevanin, J. Antoine, 2019, Neurology: Genetics.

LRP10 in α-synucleinopathies

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

Anti-Hu-associated brainstem encephalitis with ganglioneuroblastoma in a young adult

P. Bachellier, I. Namer, A. Imperiale, 2014, Journal of Neurology.

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

M. Anheim, E. Apartis, E. Roze, 2011, Journal of Neurology.

Cerebral perfusion using ASL in patients with COVID-19 and neurological manifestations: A retrospective multicenter observational study

J. Pariente, A. Krainik, M. Sokolska, 2023, Journal of Neuroradiology.

Joint Consultation by a Neurogeneticist of Movement Disorders and a Psychodynamic Psychotherapist: An Occasion for Subjectivization

O. Putois, M. Anheim, M. Bacqué, 2020, Frontiers in Psychology.

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

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

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

L. Defebvre, M. Vidailhet, J. Pariente, 2019, Brain : a journal of neurology.

Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism

N. Drouot, M. Baulac, M. Habert, 2020, Movement disorders : official journal of the Movement Disorder Society.

Neurologic and neuroimaging findings in COVID-19 patients: A retrospective multicenter study.

C. Oppenheim, C. Boutet, N. Pyatigorskaya, 2020, Neurology.

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

P. Pollak, A. Durr, F. Viallet, 2012, Neurology.

Capturing clinical progression in multisystemic genetic ataxias: lessons from a prospective study of 884 patients with autosomal recessive or early-onset ataxia

T. Klockgether, B. Brais, P. Klivényi, 2022, medRxiv.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C

P. Bauer, M. Patterson, M. Strupp, 2017, Neurology. Clinical practice.

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

N. Drouot, M. Koenig, D. Stoppa-Lyonnet, 2010, neurogenetics.

Highlighting the Dystonic Phenotype Related to GNAO1

N. Drouot, M. Vidailhet, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

E. Eichler, O. Korvatska, M. Dorschner, 2015, Neurology.

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

F. Pasquier, A. Durr, D. Hannequin, 2008, Brain : a journal of neurology.

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

D. Timmann, S. Züchner, A. Durr, 2016, Brain : a journal of neurology.

The genetic nomenclature of recessive cerebellar ataxias

A. Durr, M. Koenig, M. Synofzik, 2018, Movement disorders : official journal of the Movement Disorder Society.

Reply to: “GNAO1 Haploinsufficiency Associated with a Mild Delayed‐Onset Dystonia Phenotype”

L. Cif, Jean-Pierre Lin, A. Piton, 2022, Movement disorders : official journal of the Movement Disorder Society.

Genetics of Recessive Ataxias

S. Klebe, M. Anheim, 2015 .

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

N. Drouot, M. Koenig, F. Santorelli, 2010, Journal of Neurology.

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

N. Drouot, A. Durr, L. Schöls, 2009, Brain : a journal of neurology.

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Y. Agid, M. Vidailhet, P. Krack, 2019, Tremor and other hyperkinetic movements.

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

N. Drouot, M. Koenig, M. Gribaa, 2007, Brain : a journal of neurology.

D. Guehl, O. Rascol, A. Eusebio, 2021, Journal of Parkinson's disease.

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

A. Singleton, M. Vidailhet, A. Durr, 2018, JAMA neurology.

A recessive ataxia diagnosis algorithm for the next generation sequencing era

M. Koenig, M. Pandolfo, M. Synofzik, 2017, Annals of neurology.

Pathophysiogical and therapeutic progress in Friedreich ataxia.

M. Anheim, C. Tranchant, H. Puccio, 2014, Revue neurologique.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Delirium and encephalopathy in severe COVID-19: a cohort analysis of ICU patients

S. Kremer, M. Ohana, H. Merdji, 2020, Critical Care.

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.

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

A. Durr, D. Hannequin, A. Brice, 2017, Brain : a journal of neurology.

Emerging topics in FXTAS

G. Stebbins, J. Trollor, S. Fahn, 2014, Journal of Neurodevelopmental Disorders.

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Peter K. Todd, T. Sorg, H. Meziane, 2017, Neuron.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

N. Drouot, S. Ferdinandusse, M. Koenig, 2016, Journal of Neurology.

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2

Y. Crow, Salima El-Chehadeh, J. Marsh, 2023, Journal of Clinical Immunology.

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2018, Brain : a journal of neurology.

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

N. Drouot, M. Koenig, J. Mandel, 2018, JAMA neurology.

Subacute parkinsonism as a complication of Lyme disease

M. Anheim, C. Tranchant, M. Koob, 2017, Journal of Neurology.

The autosomal recessive cerebellar ataxias.

M. Koenig, M. Anheim, C. Tranchant, 2012, The New England journal of medicine.

FXTAS

M. Vidailhet, P. Pollak, B. Gaymard, 2012, Neurology.

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

C. Duyckaerts, A. Durr, A. Brice, 2015, American journal of human genetics.

Paroxysmal dyskinesia: When a PRRT2 variant hides a curable cause.

J. Chelly, M. Anheim, C. Tranchant, 2021, Revue neurologique.

Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort

A. Singleton, M. Vidailhet, D. Grabli, 2020, Frontiers in Neurology.

Risk factors for spinal cord lesions in dystonic cerebral palsy and generalised dystonia

M. Vidailhet, D. Galanaud, S. Thobois, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Low cancer prevalence in polyglutamine expansion diseases

S. Tezenas du Montcel, A. Durr, A. Brice, 2017, Neurology.

M. Vidailhet, M. Jahanshahi, V. Czernecki, 2018, Front. Neurol..

Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease

L. Defebvre, M. Vidailhet, P. Krack, 2018, Movement disorders : official journal of the Movement Disorder Society.

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 .

Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrospective Study

M. Vidailhet, P. Damier, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.

M. Vidailhet, V. Fraix, I. Arnulf, 2019, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders

M. Sarazin, F. Lamari, D. Wallon, 2020, Journal of Neurology.

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

A. Hoischen, N. Drouot, J. Veltman, 2010, American journal of human genetics.

Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations.

L. Defebvre, K. Dujardin, A. Destée, 2020, Parkinsonism & related disorders.

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

M. Vidailhet, D. Galanaud, A. Durr, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

The wide POLG-related spectrum: An integrated view

P. Amati‐Bonneau, A. Echaniz-Laguna, T. Kuntzer, 2016, Journal of the Neurological Sciences.

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.

Personality dimensions of patients can change during the course of parkinson’s disease

O. Rascol, A. Eusebio, B. Jarraya, 2021, PloS one.

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.

D. Timmann, S. Züchner, A. Durr, 2021, Brain : a journal of neurology.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

B. Bender, G. Vasco, A. Durr, 2020, Annals of neurology.

Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism

S. Lesage, J. Corvol, N. le Forestier, 2023, Movement disorders clinical practice.

Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea

M. Koenig, C. Geny, C. Marelli, 2017, Journal of the Neurological Sciences.

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

A. Durr, D. Hannequin, P. Ribai, 2011, Movement disorders : official journal of the Movement Disorder Society.

Implementation of a Magnetic Resonance Imaging scanner dedicated to emergencies in cases of binocular diplopia: impact on patient management.

S. Kremer, G. Bierry, M. Anheim, 2021, Journal of neuroradiology = Journal de neuroradiologie.

Exonic deletions of FXN and early-onset Friedreich ataxia.

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

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

J. Chelly, S. Traynelis, Hongjie Yuan, 2020, Movement disorders : official journal of the Movement Disorder Society.

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

N. Drouot, L. Minotti, P. Kahane, 2020, European Journal of Human Genetics.

Repetitive Behaviours in Patients with Gilles de la Tourette Syndrome: Tics, Compulsions, or Both?

Y. Agid, M. Vidailhet, P. Pollak, 2010, PloS one.

Is Motor Side Onset of Parkinson's Disease a Risk Factor for Developing Impulsive‐Compulsive Behavior? A Cross‐Sectional Study

L. Defebvre, P. Krack, O. Rascol, 2020, Movement disorders : official journal of the Movement Disorder Society.

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

F. Durif, D. Campion, D. Hannequin, 2014, neurogenetics.

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

D. Timmann, R. Schüle, L. Schöls, 2021, Frontiers in Neurology.

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Alexandra Durr, Cécile Cazeneuve, David Devos, 2012, Archives of neurology.

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.

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

D. Rujescu, A. Hartmann, D. Timmann, 2021, Neurology.

The spectrum of functional tic‐like behaviours: Data from an international registry

A. Hartmann, D. Martino, I. Heyman, 2022, European journal of neurology.

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

A. Bonnet, M. Vidailhet, S. Klebe, 2012, Neurobiology of Aging.

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

N. Drouot, M. Koenig, F. Ory-Magne, 2021, Journal of Neurology.

Delayed‐onset Friedreich's ataxia revisited

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

Tremor-spectrum in spinocerebellar ataxia type 3

A. Bonnet, M. Vidailhet, A. Durr, 2012, Journal of Neurology.

Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency

G. Lenaers, J. Chelly, N. Leboucq, 2021, Neuropediatrics.

Characterization of Recessive Parkinson Disease in a Large Multicenter Study

A. Singleton, M. Vidailhet, F. Viallet, 2020, Annals of neurology.

Apathy in Parkinson’s Disease: Clinical Patterns and Neurobiological Basis

L. Tatu, E. Magnin, M. Anheim, 2023, Cells.

A randomized controlled double-blind study of rotigotine on neuropsychiatric symptoms in de novo PD

P. Krack, E. Moro, V. Fraix, 2020, npj Parkinson's Disease.

[Ataxia associated with gluten sensitivity, myth or reality?].

A. Echaniz-Laguna, M. Anheim, B. Degos, 2006, Revue neurologique.

MRI dedicated to the emergency department for diplopia or dizziness: a cost-effectiveness analysis

S. Kremer, G. Bierry, J. Godet, 2022, European Radiology.

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.

D. Rujescu, D. Timmann, L. Schöls, 2023, Journal of neurology, neurosurgery, and psychiatry.

A randomized controlled double-blind study of rotigotine on neuropsychiatric symptoms in de novo PD

P. Krack, E. Moro, V. Fraix, 2020, npj Parkinson's Disease.

Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease

S. Tezenas du Montcel, Y. Marie, A. Brice, 2020, Frontiers in Neurology.

Impact of Subthalamic Deep Brain Stimulation on Impulse Control Disorders in Parkinson's Disease: A Prospective Study

O. Rascol, É. Bardinet, J. Houeto, 2020, Movement disorders : official journal of the Movement Disorder Society.

Early hyperdopaminergic state following sub-thalamic nucleus deep brain stimulation in Parkinson disease.

Francois R. Lamy, M. Anheim, C. Tranchant, 2022, Revue neurologique.

Safety and efficacy of subcutaneous night-time only apomorphine infusion to treat insomnia in patients with Parkinson's disease (APOMORPHEE): a multicentre, randomised, controlled, double-blind crossover study

M. Vidailhet, A. Eusebio, S. Drapier, 2022, The Lancet Neurology.

Enteric alpha-synuclein pathology in LRRK2-G2019S Parkinson's disease.

M. Neunlist, P. Derkinderen, M. Anheim, 2017, Parkinsonism & related disorders.

Reponse to J. Finsterer and S. Zarrouk-Mahjoub.

M. Anheim, C. Tranchant, 2016, Revue neurologique.

A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia

S. Mayeur, B. Lhermitte, S. Arold, 2021, Movement disorders : official journal of the Movement Disorder Society.

A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

M. Schaeffer, J. Chelly, M. Anheim, 2016, BMC Neurology.

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy

M. Cossée, A. Echaniz-Laguna, M. Anheim, 2005, Neurology.

Efficacy and safety of clonidine for the treatment of impulse control disorder in Parkinson’s disease: a multicenter, parallel, randomised, double-blind, Phase 2b Clinical trial

S. Thobois, P. Boulinguez, T. Vidal, 2023, Journal of Neurology.

Dalfampridine in hereditary spastic paraplegia: a prospective, open study

C. Depienne, A. Echaniz-Laguna, M. Anheim, 2015, Journal of Neurology.

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

N. Drouot, A. Durr, M. Koenig, 2013, Orphanet Journal of Rare Diseases.

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

M. Vidailhet, B. Gaymard, D. Grabli, 2017, Scientific Reports.

Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison

M. Anheim, S. Kolb, Juan V. Torres Martin, 2020, The Cerebellum.

Improvement in Parkinson disease by subthalamic nucleus stimulation based on electrode placement: effects of reimplantation.

A. Benabid, P. Pollak, P. Krack, 2008, Archives of neurology.

Lifetime of Itrel II pulse generators for subthalamic nucleus stimulation in Parkinson's disease

Paul Krack, Valérie Fraix, Pierre Pollak, 2007, Movement disorders : official journal of the Movement Disorder Society.

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

D. Timmann, L. Schöls, P. Klivényi, 2023, Movement disorders : official journal of the Movement Disorder Society.

Neurologic and neuroimagingfindings in patients with COVID-19 A retrospective multicenter study

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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

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Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker

M. Koenig, M. Anheim, C. Tranchant, 2020 .

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.

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

N. Drouot, J. Chelly, A. Piton, 2022, Movement disorders : official journal of the Movement Disorder Society.

Reply to “PPP2R5D Genetic Mutations and Early Onset Parkinsonism”

W. Chung, N. Drouot, C. Blauwendraat, 2020, Annals of neurology.

[Autosomal recessive cerebellar ataxias].

M. Anheim, C. Tranchant, 2009, Presse medicale.

A Phase 1 Randomized Trial of Specific Active α‐Synuclein Immunotherapies PD01A and PD03A in Multiple System Atrophy

W. Poewe, O. Rascol, E. Moro, 2020, Movement disorders : official journal of the Movement Disorder Society.

A Spotlight on Friedreich Ataxia: Optimising the Patient Journey from Diagnosis to Disease Management

M. Anheim, P. Giunti, Nicola Humphry, 2023, EMJ Neurology.

Reply to: “Autosomal‐Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker”

M. Koenig, M. Anheim, C. Tranchant, 2021 .

Unexpected combination of inherited chorea‐acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease

C. Marescaux, L. Vercueil, B. Goichot, 2010, Clinical genetics.

Early stimulation of DYT1 primary generalized dystonia prevents from its secondary irreversible complications

M. Vidailhet, A. Benabid, P. Pollak, 2008, Movement disorders : official journal of the Movement Disorder Society.

The autosomal recessive cerebellar ataxias.

M. Koenig, M. Anheim, C. Tranchant, 2012, The New England journal of medicine.

Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial

M. Chupin, A. Durr, A. Brice, 2022, The Lancet Neurology.

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

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Night‐Time Apomorphine Infusion: Who Are the Best Candidates?

M. Vidailhet, S. Drapier, I. Arnulf, 2023, Movement disorders clinical practice.

The impact of rare variants in FUS in essential tremor

G. Deuschl, S. Klebe, D. Lorenz, 2015, Movement disorders : official journal of the Movement Disorder Society.

FXTAS: New Insights and the Need for Revised Diagnostic Criteria (S20.006)

D. Maltête, S. Thobois, M. Anheim, 2013, Neurology.

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

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson’s disease

V. Fraix, E. Broussolle, S. Thobois, 2023, Scientific reports.

Unexpected combination of inherited chorea‐acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease

M. Anheim, B. Ellero, P. Chamouard, 2010, Clinical genetics.