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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.
Frontiers in Neurology, 2021, 12, pp.677551. ⟨10.3389/fneur.2021.677551⟩
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.
Annals of Neurology, 2020, 88 (5), pp.1028-1033. ⟨10.1002/ana.25863⟩
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.
Viruses, 2022, 14 (5), pp.949. ⟨10.3390/v14050949⟩
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.
Critical Care, 2020, 24 (1), ⟨10.1186/s13054-020-03200-1⟩
Journal articles hal-03594845v1

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

A Delamarre , Jamel Chelly , D Guehl , Nathalie Drouot , Christine Tranchant et al.
Parkinsonism & Related Disorders, 2019, 64, pp.346-348. ⟨10.1016/j.parkreldis.2019.04.019⟩
Journal articles hal-03679176v1

Paroxysmal dyskinesia: When a PRRT2 variant hides a curable cause

V. Schneider , M. Ferrari-Henquinet , A. O. Diallo , Jameleddine Chelly , Mathieu Anheim et al.
Revue Neurologique, 2021, 177 (6), pp.707-708. ⟨10.1016/j.neurol.2020.09.012⟩
Journal articles hal-03709449v1

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.
Parkinsonism & Related Disorders, 2017, 41, pp.127-129. ⟨10.1016/j.parkreldis.2017.05.014⟩
Journal articles hal-03680447v1

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Solveig Montaut , Nadege Diedhiou , Pauline Fahrer , Cécilia Marelli , Benoit Lhermitte et al.
Journal of Neurology, 2021, 268 (9), pp.3337-3343. ⟨10.1007/s00415-021-10499-5⟩
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.
Movement Disorders, 2020, 35 (7), pp.1224-1232. ⟨10.1002/mds.28058⟩
Journal articles hal-03669746v1

Mitochondrial disease and amyloidosis in a patient with familial polyneuropathy

O Gebus , M. Fleury , Jean-Baptiste Chanson , Mathieu Anheim , Christine Tranchant et al.
European Journal of Neurology, 2018, 25 (11), pp.118-119. ⟨10.1111/ene.13767⟩
Journal articles hal-03691240v1

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 of Clinical Sleep Medicine, 2019, 15 (7), pp.1021-1029. ⟨10.5664/jcsm.7886⟩
Journal articles hal-03698380v1

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 of Neurology, 2020, 267 (3), pp.855-859. ⟨10.1007/s00415-020-09737-z⟩
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.
Movement Disorders, 2022, 37 (2), pp.365-374. ⟨10.1002/mds.28861⟩
Journal articles hal-03509022v1

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 of Neurology, 2020, 267 (5), ⟨10.1007/s00415-020-09702-w⟩
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.
Neurology, 2021, 96 (9), ⟨10.1212/WNL.0000000000011528⟩
Journal articles hal-03709465v1

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.
Movement Disorders, 2020, 35 (5), pp.880-885. ⟨10.1002/mds.27982⟩
Journal articles hal-03668014v1

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
Cerebellum, 2020, 19 (2), pp.243-251. ⟨10.1007/s12311-020-01102-0⟩
Journal articles hal-03698373v1

Benign hereditary chorea: From benign to serious

Anaide Lamiral , Salima El Chehadeh , Jameleddine Chelly , Mathieu Anheim , Vincent Laugel et al.
Revue Neurologique, 2020, 176 (4), pp.295-296. ⟨10.1016/j.neurol.2019.07.026⟩
Journal articles hal-03664353v1

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

Olivier Putois , Marie-Frédérique Bacqué , Mathieu Anheim
Frontiers in Psychology, 2020, 11, pp.1828. ⟨10.3389/fpsyg.2020.01828⟩
Journal articles hal-03289430v1

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.
Movement Disorders, 2020, 35 (6), pp.1080-1081. ⟨10.1002/mds.28053⟩
Journal articles hal-03700163v1

Neurologic Features in Severe SARS-CoV-2 Infection

Julie Helms , Stephane Kremer , Hamid Merdji , Raphaël Clere-Jehl , Malika Schenck et al.
New England Journal of Medicine, 2020, 382 (23), pp.2268-2270. ⟨10.1056/NEJMc2008597⟩
Journal articles hal-04014335v1

Neurology and pregnancy: The delivery

Mathieu Anheim
Revue Neurologique, 2021, 177 (3), pp.166-167. ⟨10.1016/j.neurol.2021.02.383⟩
Journal articles hal-03701307v1

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

Mathilde Renaud , Christine Tranchant , Michel Koenig , Mathieu Anheim
Movement Disorders, 2021, 36 (3), pp.789-790. ⟨10.1002/mds.28524⟩
Journal articles hal-03709429v1

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.
Revue Neurologique, 2020, 176 (4), pp.292-293. ⟨10.1016/j.neurol.2019.10.007⟩
Journal articles hal-03471674v1

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.
The Lancet Neurology, 2022, 21 (5), pp.428-437. ⟨10.1016/S1474-4422(22)00085-0⟩
Journal articles hal-03691762v1

Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism

Christine Y. Kim , Thomas Wirth , Cécile Hubsch , Andrea H. Nemeth , Volkan Okur et al.
Annals of Neurology, 2020, 89 (1), pp.195-196. ⟨10.1002/ana.25945⟩
Journal articles hal-03708079v1

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.
Neurology: Clinical Practice, 2017, 7 (6), pp.499-511. ⟨10.1212/CPJ.0000000000000399⟩
Journal articles hal-03691173v1

CANVAS: A very late onset cerebellar ataxia, due to biallelic expansions in the RFC1 gene

Christine Tranchant , Mathieu Anheim
Revue Neurologique, 2019, 175 (9), pp.493-494. ⟨10.1016/j.neurol.2019.05.002⟩
Journal articles hal-03698375v1

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 of Neurology, 2020, 267 (11), pp.3371-3377. ⟨10.1007/s00415-020-10020-4⟩
Journal articles hal-03698376v1

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.
Brain - A Journal of Neurology , 2017, 140 (6), pp.1579-1594. ⟨10.1093/brain/awx081⟩
Journal articles hal-03682262v1