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Plos One|January 15, 2014
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changesMarika Pane, Elena S Mazzone, Maria Pia Sormani, et al.Neurology. Genetics|April 4, 2022
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY NetworkSalvatore Rossi, Anna Rubegni, Vittorio Riso, et al.BMJ Open|June 4, 2024
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registryMadeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, et al.Frontiers in Neurology|December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudyAngelica D'Amore, Alessandra Tessa, Carlo Casali, et al.Human Mutation|December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola S Denora, David Schlesinger, Carlo Casali, et al.Brain : a Journal of Neurology|November 5, 2024
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severityDomenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, et al.Human Molecular Genetics|July 21, 2022
Natural history of KBG syndrome in a large European cohortLorenzo Loberti, Lucia Pia Bruno, Stefania Granata, et al.Nature Genetics|September 25, 2012
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureGillian I Rice, Paul R Kasher, Gabriella M A Forte, et al.Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.Pageof 23