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Brain : a Journal of Neurology|October 4, 2017
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophyImen Dorboz, Chiara Aiello, Cas Simons, et al.
Neurobiology of Disease|December 10, 2025
Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunctionAngela Lanciotti, Maria Stefania Brignone, Chiara De Nuccio, et al.
European Journal of Human Genetics : EJHG|May 17, 2022
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variantFrancesco Nicita, Fabrizia Stregapede, Federica Deodato, et al.
Cerebellum (London, England)|September 10, 2013
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?Andrea Poretti, Martin Häusler, Arpad von Moers, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 9, 2015
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patientsDavide Tonduti, Chiara Aiello, Florence Renaldo, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomaliesLucia Micale, Aikaterini Vourlia, Carmela Fusco, et al.
Annals of Neurology|October 31, 2012
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyRita Barone, Chiara Aiello, Valérie Race, et al.
Molecular Genetics and Metabolism|January 1, 2008
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC typeCélia Nogueira, Chiara Aiello, Roberto Cerone, et al.
Orphanet Journal of Rare Diseases|May 13, 2017
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsAlessia Nasca, Teresa Rizza, Mara Doimo, et al.
Biochemical and Biophysical Research Communications|January 13, 2009
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6Natalia Cannelli, Barbara Garavaglia, Alessandro Simonati, et al.
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