Results 111 to 120 of about 658 (148)

A Rationally Designed AAV9-DM Capsid with Minimal Liver Tropism. [PDF]

Cells
Nabakowski ZC, Jaramillo IC, Tanachaiwiwat P, Keeler GD.   +3 more
europepmc   +1 more source

Establishment of normal myofiber size distribution in children and young adults. [PDF]

J Neuropathol Exp Neurol
Lawlor MW, Margeta M, Jones KA, Schoser B, Cotter JA, Rajaram V, Moore SA, Prom MJ, Beatka M, Ott E, Slick RA, Collins MP, Esselman A, Shahnoor N, Danielson S, Meng H, Varfaj F, Prasad S, Rico S, Lee J, Kumar SN, Dressman HG.   +21 more
europepmc   +1 more source

Congenital myopathies: pathophysiological mechanisms and promising therapies. [PDF]

J Transl Med
Zhang H, Chang M, Chen D, Yang J, Zhang Y, Sun J, Yao X, Sun H, Gu X, Li M, Shen Y, Dai B.   +11 more
europepmc   +1 more source

Abstracts of the 19^th UK Neuromuscular Translational Research Conference 17^th and 18^th April 2026. [PDF]

J Neuromuscul Dis
europepmc   +1 more source

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated With Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report [PDF]

Journal of Neuromuscular Diseases, 2022
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be associated with life-threatening hepatic peliosis.
Robert J. Graham, Binita M Kamath, Weston Miller   +2 more
exaly   +7 more sources

ASPIRO Gene Replacement Therapy Trial With Resamirigene Bilparvovec in XLMTM: Pathologic Findings in Four Deceased Study Participants

Arquivos De Neuro-Psiquiatria, 2023
Wolfgang Müller-Felber, Weston Miller, Nancy Kuntz   +2 more
exaly   +2 more sources

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ASPIRO Gene Therapy Trial in X-Linked Myotubular Myopathy (XLMTM): Update on Preliminary Efficacy and Safety Findings

Neuropediatrics, 2021
N Kuntz, L Servais, W Müller-Felber
exaly   +2 more sources

Cognitive, Adaptive and Perseverative Aspects Characterization of Children With XLMTM: An Explorative Study

European Journal of Paediatric Neurology
X-Linked Myotubular Myopathy (XLMTM) is a severe congenital myopathy, potentially fatal within the first years. Patients present several complications and their cognitive development has never been explored deeply so far. An in-depth knowledge on the disease natural history, including the neurocognitive and adaptive profile, is essential in light of ...
Enrico Bertini, Francesca Cumbo, Michele Tôsi   +2 more
exaly   +3 more sources

AAV8 Basierte Gentherapie Bei X-Linked Myotubulärer Myopathie (XLMTM) – Interimsdaten

Nervenheilkunde, 2019
N Kuntz, L Servais
exaly   +2 more sources