Results 141 to 150 of about 1,629 (185)

Quantification of lectin fluorescence in GNE myopathy muscle biopsies. [PDF]

Muscle Nerve, 2018
Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC.   +7 more
europepmc   +1 more source

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [PDF]

Muscle Nerve, 2019
Chakravorty S, Berger K, Arafat D, Nallamilli BRR, Subramanian HP, Joseph S, Anderson ME, Campbell KP, Glass J, Gibson G, Hegde M.   +10 more
europepmc   +1 more source

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy. [PDF]

J Cell Mol Med, 2018
Wu Y, Yuan L, Guo Y, Lu A, Zheng W, Xu H, Yang Y, Hu P, Gu S, Wang B, Deng H.   +10 more
europepmc   +1 more source

Immortalization of primary myoblasts from the DMD pig - hTERT/CDK4 prevent cellular senescence in primary porcine myoblasts [PDF]

, 2022
Schumacher, Nicolas
core  

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. [PDF]

Neurology, 2019
Lochmüller H, Behin A, Caraco Y, Lau H, Mirabella M, Tournev I, Tarnopolsky M, Pogoryelova O, Woods C, Lai A, Shah J, Koutsoukos T, Skrinar A, Mansbach H, Kakkis E, Mozaffar T.   +15 more
europepmc   +1 more source

Cag/polyglutamine disease diagnostics:integrative omics [PDF]

Gonawala Rallage Buddhika , Lakmal
core   +2 more sources

Duchenne muscular dystrophy:from muscle to brain [PDF]

Wijekoon, Nalaka
core   +2 more sources

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network. [PDF]

Angelini CI, Antonini G, Ariatti A, Astrea G, Bencivenga RP, Bonanno S, Bortolani S, Cheli M, Comi GP, Diaz-Manera J, Falzone YM, Filosto M, Garibaldi M, Gemelli C, Grandis M, Greco G, Liguori R, Lopergolo D, Lucchini M, Maggi L, Magri F, Malandrini A, Massa R, Mirabella M, Monforte M, Mongini TE, Petrucci A, Previtali SC, Primiano G, Pugliese A, Ravaglia S, Ricci E, Ricci G, Rodolico C, Rubegni A, Ruggieri A, Ruggiero L, Sancricca C, Santorelli FM, Savarese M, Servidei S, Siciliano G, Tasca G, Tonin P, Torchia E, Toscano A, Valentino ML, Vattemi G, Velardo D   +48 more
core   +1 more source