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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
Andreas Traschütz
,
Selina Reich
,
Astrid D. Adarmes
,
Mathieu Anheim
,
Mahmoud Reza Ashrafi
et al.
Journal articles
hal-03709482v1
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Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation
Christine Y. Kim
,
Thomas Wirth
,
Cécile Hubsch
,
Andrea H. Nemeth
,
Volkan Okur
et al.
Journal articles
hal-03698378v1
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Evolution of Neuroimaging Findings in Severe COVID-19 Patients with Initial Neurological Impairment: An Observational Study
François Lersy
,
Caroline Bund
,
Mathieu Anheim
,
Marie Mondino
,
Vincent Noblet
et al.
Journal articles
hal-03668012v1
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Delirium and encephalopathy in severe COVID-19: a cohort analysis of ICU patients
Julie Helms
,
Stephane Kremer
,
Hamid Merdji
,
Malika Schenck
,
François Séverac
et al.
Journal articles
hal-03594845v1
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Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia
A Delamarre
,
Jamel Chelly
,
D Guehl
,
Nathalie Drouot
,
Christine Tranchant
et al.
Journal articles
hal-03679176v1
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Paroxysmal dyskinesia: When a PRRT2 variant hides a curable cause
V. Schneider
,
M. Ferrari-Henquinet
,
A. O. Diallo
,
Jameleddine Chelly
,
Mathieu Anheim
et al.
Journal articles
hal-03709449v1
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Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6-related juvenile Parkinson's disease
Thomas Wirth
,
Sébastien Weibel
,
Solveig Montaut
,
Kévin Bigaut
,
Gabrielle Rudolf
et al.
Journal articles
hal-03680447v1
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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
Solveig Montaut
,
Nadege Diedhiou
,
Pauline Fahrer
,
Cécilia Marelli
,
Benoit Lhermitte
et al.
Journal articles
hal-03709403v1
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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus
Juliette Piard
,
Matthieu Béreau
,
Wenshu Xiang Wei
,
Thomas Wirth
,
Daniel Amsallem
et al.
Journal articles
hal-03669746v1
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Mitochondrial disease and amyloidosis in a patient with familial polyneuropathy
O Gebus
,
M. Fleury
,
Jean-Baptiste Chanson
,
Mathieu Anheim
,
Christine Tranchant
et al.
Journal articles
hal-03691240v1
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Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements
Aurélie Meneret
,
Emmanuel Roze
,
Jean-Baptiste Maranci
,
Pauline Dodet
,
Diane Doummar
et al.
Journal articles
hal-03698380v1
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Clonidine GH stimulation test to differentiate MSA from idiopathic late onset cerebellar ataxia: a prospective, controlled study
C Bonnard
,
T. Wirth
,
O. Gebus
,
P. Fahrer
,
S. Montaut
et al.
Journal articles
hal-03698390v1
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A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia
Amjad Khan
,
Anne Molitor
,
Sylvain Mayeur
,
Gaoqun Zhang
,
Bruno Rinaldi
et al.
Journal articles
hal-03509022v1
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Brain MRI of multiple system atrophy of cerebellar type: a prospective study with implications for diagnosis criteria
G. Carré
,
Jean-Louis Dietemann
,
Odile Gebus
,
Solveig Montaut
,
O. Lagha-Boukbiza
et al.
Journal articles
hal-03698397v1
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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
Andreas Traschutz
,
Andrea Cortese
,
Selina Reich
,
Natalia Dominik
,
Jennifer Faber
et al.
Journal articles
hal-03709465v1
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Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism
Thomas Wirth
,
Louise Laure Mariani
,
Gaber Bergant
,
Michel Baulac
,
Marie-Odile Habert
et al.
Journal articles
hal-03668014v1
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Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison
Mathieu Anheim
,
Juan V. Torres Martin
,
Stefan Kolb
Journal articles
hal-03698373v1
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Benign hereditary chorea: From benign to serious
Anaide Lamiral
,
Salima El Chehadeh
,
Jameleddine Chelly
,
Mathieu Anheim
,
Vincent Laugel
et al.
Journal articles
hal-03664353v1
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Joint Consultation by a Neurogeneticist of Movement Disorders and a Psychodynamic Psychotherapist: An Occasion for Subjectivization
Olivier Putois
,
Marie-Frédérique Bacqué
,
Mathieu Anheim
Journal articles
hal-03289430v1
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Is Motor Side Onset of Parkinson's Disease a Risk Factor for Developing Impulsive-Compulsive Behavior? A Cross-Sectional Study
Clélie Phillipps
,
Nadine Longato
,
Matthieu Bereau
,
Nicolas Carriere
,
Ouhaid Lagha-Boukbiza
et al.
Journal articles
hal-03700163v1
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Neurologic Features in Severe SARS-CoV-2 Infection
Julie Helms
,
Stephane Kremer
,
Hamid Merdji
,
Raphaël Clere-Jehl
,
Malika Schenck
et al.
Journal articles
hal-04014335v1
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Neurology and pregnancy: The delivery
Mathieu Anheim
Journal articles
hal-03701307v1
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Reply to: "Autosomal-Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker
Mathilde Renaud
,
Christine Tranchant
,
Michel Koenig
,
Mathieu Anheim
Journal articles
hal-03709429v1
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Impulse control disorder-linked hypersexuality complicated by disseminated gonococcal infection in a patient with Parkinson's disease
Céline Moegle
,
Antoine Grillon
,
Mathieu Anheim
,
Dan Lipsker
,
Charles Velter
et al.
Journal articles
hal-03471674v1
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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
Valérie Cochen de Cock
,
Pauline Dodet
,
Smaranda Leu-Semenescu
,
Cécile Aerts
,
Giovanni Castelnovo
et al.
Journal articles
hal-03691762v1
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Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism
Christine Y. Kim
,
Thomas Wirth
,
Cécile Hubsch
,
Andrea H. Nemeth
,
Volkan Okur
et al.
Journal articles
hal-03708079v1
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
Marc Patterson
,
Peter Clayton
,
Ppaul Gissen
,
Mathieu Anheim
,
Peter Bauer
et al.
Journal articles
hal-03691173v1
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CANVAS: A very late onset cerebellar ataxia, due to biallelic expansions in the RFC1 gene
Christine Tranchant
,
Mathieu Anheim
Journal articles
hal-03698375v1
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High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Daniele Mandia
,
Marion Plaze
,
Isabelle Le Ber
,
Claire Ewenczyk
,
Alexandre Morin
et al.
Journal articles
hal-03698376v1
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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
Marie Coutelier
,
Giulia Coarelli
,
Marie-Lorraine Monin
,
Juliette Konop
,
Claire-Sophie Davoine
et al.
Journal articles
hal-03682262v1
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