Recherche
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Evidence of mosaicism in SPAST variant carriers in four French families
(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)Article de revue -
Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 92, n° 1, 2021)Article de revue -
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56
(Journal of Internal Medicine. vol. 289, n° 5, pp. 709-725, 2021)Article de revue -
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 -
SOD1-related ALS with anticipation in a large family from Martinique
(Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021-03-23)Article de revue -
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