Alexis Brice
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Publications
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Tesson C, Bouchetara MS, Ferrien M, et al. (2023) Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease. Movement Disorders : Official Journal of the Movement Disorder Society |
Cunha P, Petit E, Coutelier M, et al. (2023) Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. American Journal of Human Genetics |
Khrouf W, Saracino D, Rucheton B, et al. (2023) Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression. Neurobiology of Disease. 106108 |
Barbier M, Davoine CS, Petit E, et al. (2022) Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? Genetics in Medicine : Official Journal of the American College of Medical Genetics |
Fevga C, Tesson C, Mascaro AC, et al. (2022) PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability. Brain : a Journal of Neurology |
Coutelier M, Jacoupy M, Janer A, et al. (2021) NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain : a Journal of Neurology |
Yahia A, Elsayed LEO, Valter R, et al. (2021) Pathogenic Variants in Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia. Frontiers in Neurology. 12: 720201 |
Lai D, Alipanahi B, Fontanillas P, et al. (2021) Genome-wide association studies of LRRK2 modifiers of Parkinson's disease. Annals of Neurology |
Lesage S, Mangone G, Tesson C, et al. (2021) Clinical Variability of -Associated Early-Onset Parkinsonism. Frontiers in Neurology. 12: 648457 |
Méreaux JL, Firanescu C, Coarelli G, et al. (2021) Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations. Neurogenetics |