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Distinguishing severe phenotypes associated with pathogenic variants in POLR3A
Article de revueAm J Med Genet A, 188 (2), 2022.
Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder
Article de revueNeurology, 94 (14), 2020.
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
Article de revueNeurol Genet, 6 (3), 2020.
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy
Article de revueMov Disord Clin Pract, 7 (8), 2020.
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Article de revueActa Neuropathol, 138 (6), 2019.
Ring Chromosome 20
Chapitre de livreE, Trinka; R, Guerrini; S, Shorvon; S, Schachter (Ed.): The causes of epilepsy : diagnosis and investigation, p. 435-438, New York, NY, Cambridge University Press, 2019, ISBN: 9781108420754.
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
Article de revueNeurol Genet, 5 (6), 2019.
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy
Article de revueClin Genet, 93 (2), 2018.
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
Article de revueAm J Hum Genet, 102 (4), 2018.
Rapid Resolution of Enterovirus 71-Associated Opsoclonus Myoclonus Syndrome on Intravenous Immunoglobulin
Article de revueChild Neurol Open, 4 , 2017.