Publications by authors named "Mathieu Anheim"

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Progress and challenges in sporadic late-onset cerebellar ataxias.
Thomas Wirth, Jennifer Faber, Christel Depienne, Emmanuel Roze, Jérôme Honnorat, Mathieu Anheim

Nat Rev Neurol· December 2025

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Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, Cyril Goizet, Olivier Patat, Mathieu Anheim

Genet Med· December 2025

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RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.
Edoardo Monfrini, Paola Rinchetti, Mathieu Anheim, Anna Klingseisen, Ouhaid Lagha-Boukbiza

Mov Disord· December 2025

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ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.
Alice Innocenti, Emmanuel Roze, Florence Riant, Marie-Céline François-Heude, Bérénice Lecardonnel, Mathieu Anheim

Mov Disord Clin Pract· November 2025

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Author Correction: Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.
Aymeric Lanore, Christelle Tesson, Aymeric Basset, François-Xavier Lejeune, Guillaume Cogan, Mathieu Anheim

NPJ Parkinsons Dis· November 2025

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Effect on Dyskinesia of the Early Combination of Amantadine to Levodopa-Therapy in Parkinson's Disease: A Randomized, Placebo-Controlled Study (PREMANDYSK).
Olivier Rascol, Fabienne Ory-Magne, Wassilios G Meissner, David Maltête, Luc Defebvre, Mathieu Anheim

Mov Disord· November 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Mathieu Anheim

Am J Hum Genet· October 2025

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STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.
Diane Pina, Agathe Roubertie, Marie-Aude Spitz, Claudia Ravelli, Nadia Bahi-Buisson, Mathieu Anheim

Mov Disord Clin Pract· September 2025

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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Sarah M Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A Kamel, Mathieu Anheim

Ann Neurol· September 2025

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Neuropsychiatric fluctuations in Parkinson's disease: A French multicenter study of the NFS psychometric properties.
Emmanuelle Schmitt, Martine Bouvard, Mathieu Anheim, Dominique Guehl, Helene Klinger

Parkinsonism Relat Disord· September 2025

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Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use Considerations.
Susan Perlman, Mathieu Anheim, Sylvia Boesch, James H Lewis, David R Lynch

Neurol Ther· August 2025

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Exploring the link between personality dimensions and non-motor fluctuations in Parkinson's disease.
Mathilde Boussac, Florent Faggianelli, Estelle Harroch, Alexandre Eusebio, Margherita Fabbri, Mathieu Anheim

J Parkinsons Dis· August 2025

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The Two Faces of Pediatric SCA2.
Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, Anna Heinzmann, Anne-Laure Fauret, Mathieu Anheim

Eur J Neurol· August 2025

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Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.
Aymeric Lanore, Christelle Tesson, Aymeric Basset, François-Xavier Lejeune, Guillaume Cogan, Mathieu Anheim

NPJ Parkinsons Dis· August 2025

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Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.
Julian Theuriet, Lukas Paulet, Blandine Acket, Fabienne Ory-Magne, Hocine Belbachir, Mathieu Anheim

Eur J Neurol· July 2025

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Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.
Armand Hocquel, David Pellerin, Jean Loup Méreaux, Vincent Huin, Marios Hadjivassiliou, Mathieu Anheim

J Neurol· July 2025

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Trigeminal Tract Abnormality Leading to Leukodystrophy With Brainstem and Spinal Cord Involvement and High Lactate Diagnosis.
Irène Pei, Thomas Bogdan, Christine Tranchant, Nadège Calmels, Mathieu Anheim

Neurology· May 2025

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Therapeutic modalities of deferiprone in Parkinson's disease: SKY and EMBARK studies.
David Devos, Olivier Rascol, Wassilios G Meissner, Alexandra Foubert-Samier, Simon Lewis, Mathieu Anheim

J Parkinsons Dis· February 2025

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No evidence for association between GAA-FGF14 expansion and early onset cerebellar ataxia: a study on 85 undiagnosed patients.
Clarisse Delvallee, Nadège Calmels, Thomas Bogdan, Christine Tranchant, Mathieu Anheim

J Neurol· December 2024

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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G Sebastian Hönes, Mathieu Anheim

Nat Commun· September 2024

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Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Thomas Wirth, Emmanuel Roze, Clarisse Delvallée, Oriane Trouillard, Nathalie Drouot, Mathieu Anheim

Mov Disord· May 2024

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Trial of Lixisenatide in Early Parkinson's Disease.
Wassilios G Meissner, Philippe Remy, Caroline Giordana, David Maltête, Pascal Derkinderen, Mathieu Anheim

N Engl J Med· April 2024

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A Double-Blind, Randomized, Placebo-Controlled Trial of Bumetanide in Parkinson's Disease.
Philippe Damier, Bertrand Degos, Giovanni Castelonovo, Mathieu Anheim, Isabelle Benatru

Mov Disord· March 2024

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Restless legs syndrome in the dominant Parkinson's side related to subthalamic deep-brain stimulation.
Lionel Tordjman, Ouhaïd Lagha-Boukbiza, Mathieu Anheim, Christine Tranchant, Patrice Bourgin

Sleep Med· March 2024

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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Mathieu Anheim

Nat Commun· March 2024

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