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Journal of Neuromuscular Diseases|July 15, 2026
Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research frameworkLisa-Sophie Wüstner, Kornelia Ellwanger, Nika Schuermans, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|September 24, 2017
Intrafamilial phenotypic variations in familial cases of cervical flexion induced myelopathy/Hirayama diseaseKiran Polavarapu, Veeramani Preethish-Kumar, Saraswati Nashi, et al.Plos One|July 24, 2014
Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2GAmirtharaj Francis, Balaraju Sunitha, Kandavalli Vinodh, et al.Biomedicines|January 8, 2025
Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated PhenotypesKatja Neuhoff, Ozge Aksel Kilicarslan, Corinna Preuße, et al.Chronic Illness|April 26, 2022
An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settingsPriya Treesa Thomas, Manjusha G Warrier, S Arun, et al.Journal of Neuromuscular Diseases|May 17, 2024
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial DiseaseCatarina Olimpio, Ida Paramonov, Leslie Matalonga, et al.Human Mutation|June 25, 2019
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorderRachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, et al.Journal of Molecular Neuroscience : MN|June 9, 2021
A Novel L1 Linker Mutation in DES Resulted in Total Absence of ProteinRashmi Santhoshkumar, Veeramani Preethish-Kumar, Kiran Polavarapu, et al.Neurology India|April 3, 2025
Novel Variant of the Desert Hedgehog Gene in an Indian Patient of 46, XY Gonadal Dysgenesis with Peripheral NeuropathyKosha Srivastava, Dipti Baskar, Seena Vengalil, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|July 25, 2018
Caregiver burden and quality of life of patients with amyotrophic lateral sclerosis in IndiaPriya Treesa Thomas, Manjusha G Warrier, Arun Sadasivan, et al.Pageof 12