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Neurobiology of Aging|October 16, 2012
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementiaCinzia Tiloca, Nicola Ticozzi, Viviana Pensato, et al.Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, et al.Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.Human Mutation|July 18, 2017
The role of de novo mutations in the development of amyotrophic lateral sclerosisPerry T C van Doormaal, Nicola Ticozzi, Jochen H Weishaupt, et al.Neurology. Genetics|March 4, 2021
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variantsFederica Malerba, Giulio Alberini, Ganna Balagura, et al.American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.JAMA Neurology|June 1, 2016
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral SclerosisIsabella Fogh, Kuang Lin, Cinzia Tiloca, et al.Brain : a Journal of Neurology|October 24, 2018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyondCarla Marini, Alessandro Porro, Agnès Rastetter, et al.Human Molecular Genetics|November 22, 2013
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosisIsabella Fogh, Antonia Ratti, Cinzia Gellera, et al.Pageof 8