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European Journal of Human Genetics : EJHG|February 17, 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathiesKaren W Gripp, Sarah F Smithson, Ingrid J Scurr, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesisSafoora B Syeda, Museer A Lone, Payam Mohassel, et al.EMBO Molecular Medicine|December 19, 2025
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delaySøren H Hough, Satpal S Jhujh, Samah W Awwad, et al.Brain : a Journal of Neurology|February 16, 2013
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathiesAnn E Davidson, Fazeel M Siddiqui, Michael A Lopez, et al.Neurology|January 28, 2021
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodSara Zagaglia, Dora Steel, S Krithika, et al.Diabetes, Obesity & Metabolism|June 3, 2025
Management of metabolic dysfunction-associated steatotic liver disease (MASLD)-An expert consensus statement from Indian diabetologists' perspectiveAbdul Hamid Zargar, Anil Bhansali, Anirban Majumdar, et al.The Lancet Regional Health. Europe|January 3, 2024
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United KingdomVasantha Gowda, Mark Atherton, Archana Murugan, et al.Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.Neurology. Clinical Practice|June 27, 2024
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3Federica Trucco, Deborah Ridout, Harriet Weststrate, et al.Nature Genetics|November 24, 2020
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processingCarolina Uggenti, Alice Lepelley, Marine Depp, et al.Pageof 4