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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 livreTrinka E, Guerrini R, Shorvon S, Schachter S (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.