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1
Progress and challenges in sporadic late-onset cerebellar ataxias

von Wirth, Thomas ; Faber, Jennifer ; Depienne, Christel ; et al.

Nature Reviews Neurology. 21(12):687-705
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2
Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use Considerations

von Perlman, Susan ; Anheim, Mathieu ; Boesch, Sylvia ; et al.

Neurology and Therapy. 14(4):1209-1227
- Zum Volltext in PubMed Central
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3
Author Correction: Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

von Lanore, Aymeric ; Tesson, Christelle ; Basset, Aymeric ; et al.

npj Parkinson's Disease. 11(1)
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4
Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

von Lanore, Aymeric ; Tesson, Christelle ; Basset, Aymeric ; et al.

npj Parkinson's Disease. 11(1)
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5
Effects of deep brain stimulation on non motor fluctuations in Parkinson’s disease (assessed with the NMF severity scale)

von Matta, Christian ; Comet, Camille ; Gaillard, Corentin ; et al.

In Clinical Parkinsonism & Related Disorders 2026 14
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6
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series

von Hocquel, Armand ; Pellerin, David ; Méreaux, Jean loup ; et al.

Journal of Neurology. 272(8)
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7
Missense variants in the A Isoform of FGF13 as a novel cause of paroxysmal dyskinesia

von Mignot, Cyril ; Papathanasiou Terzi, Matthildi Athina ; Ravelli, Claudia ; et al.
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8
Understanding dopaminergic dose reduction following STN-DBS: mediation analysis

von Lynda Djemmane ; Alain Duhamel ; Emmanuelle Schmitt ; et al.

BMJ Neurology Open, Vol 8, Iss 1 (2026)

Schlagworte: Neurosciences. Biological psychiatry. Neuropsychiatry; RC321-571
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9
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia

von M’Zahem, Abderrahim ; Goldenberg, Alice ; Bolocan, Anamaria ; et al.

In Genetics in Medicine December 2025 27(12)
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10
PFMG2025–integrating genomic medicine into the national healthcare system in France

von Abadie, Caroline ; Abderrahmane, Aldja ; Abdous, Ouarda ; et al.

In The Lancet Regional Health - Europe March 2025 50
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11
A clinical and genotype-phenotype analysis of MACF1 variants

von Dekker, Jordy ; Schot, Rachel ; Aldinger, Kimberly A. ; et al.

In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
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12
Neuropsychiatric fluctuations in Parkinson's disease: A French multicenter study of the NFS psychometric properties

von Schmitt, Emmanuelle ; Bouvard, Martine ; Anheim, Mathieu ; et al.

In Parkinsonism and Related Disorders September 2025 138
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13
Exploring the link between personality dimensions and non-motor fluctuations in Parkinson's disease

von Mathilde Boussac ; Florent Faggianelli ; Estelle Harroch ; et al.

Journal of Parkinson’s Disease, Vol 15 (2025)

Schlagworte: Medicine
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14
Deciphering the Chemistry of Cultural Heritage: Targeting Material Properties by Coupling Spectral Imaging with Image Analysis

von Bertrand, Loïc ; Thoury, Mathieu ; Gueriau, Pierre ; et al.

Accounts of Chemical Research. 54(13):2823-2832
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15
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

von Delplanque, Jérôme ; Devos, David ; Huin, Vincent ; et al.

Brain - A Journal of Neurology , Oxford University Press (OUP), 2014, 137 (10), pp.2657-2663

Schlagworte: Quantitative Biology - Genomics
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16
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

von Lars Mohren ; Friedrich Erdlenbruch ; Elsa Leitão ; et al.

Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

Schlagworte: Science
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17
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance

von Klockgether, Thomas ; Synofzik, Matthis ; Alhusaini, Saud ; et al.

The Cerebellum. 23(3):924-930
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18
Prognosis of impulse control disorders in Parkinson’s disease: a prospective controlled study

von Wirth, Thomas ; Goetsch, Thibaut ; Corvol, Jean-Christophe ; et al.

Journal of Neurology. 271(5):2412-2422
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19
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20
Therapeutic modalities of deferiprone in Parkinson's disease: SKY and EMBARK studies

von David Devos ; Olivier Rascol ; Wassilios G Meissner ; et al.

Journal of Parkinson’s Disease, Vol 15 (2025)

Schlagworte: Medicine
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21
No evidence for association between GAA-FGF14 expansion and early onset cerebellar ataxia: a study on 85 undiagnosed patients

von Delvallee, Clarisse ; Calmels, Nadège ; Bogdan, Thomas ; et al.

Journal of Neurology. 272(1)
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22
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

von Chelban, Viorica ; Aksnes, Henriette ; Maroofian, Reza ; et al.

Nature Communications. 15(1)
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23
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

von Méreaux, Jean-Loup ; Davoine, Claire-Sophie ; Pellerin, David ; et al.

In eBioMedicine January 2024 99
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24
Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson’s disease

von Matthieu Béreau ; Anna Castrioto ; Mathieu Servant ; et al.

Scientific Reports, Vol 13, Iss 1, Pp 1-7 (2023)

Schlagworte: Medicine; Science
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25
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