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Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
(BMC Neurology. vol. 22, n° 1, pp. 53, 2022-02-12)Article de revueLibre accès -
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
(Journal of Clinical Endocrinology and Metabolism. vol. 106, n° 2, pp. E660-E674, 2021-10-01)Article de revueLibre accès -
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
(neurogenetics. vol. 22, n° 1, pp. 71-79, 2021-01-23)Article de revueLibre accès -
Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
(Clinical Kidney Journal. vol. 16, n° 1, pp. 100-110, 2023-01)Article de revueLibre accès -
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
(Movement Disorders. vol. 38, n° 11, pp. 2103-2115, 2023-11-01)Article de revueLibre accès -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
(European Journal of Human Genetics, 2023-10-23)Article de revueLibre accès