Results 111 to 120 of about 1,200 (179)

Population Pharmacokinetic Model of N-acetylmannosamine (ManNAc) and N-acetylneuraminic acid (Neu5Ac) in Subjects with GNE Myopathy. [PDF]

Drugs R D, 2021
Van Wart S, Mager DE, Bednasz CJ, Huizing M, Carrillo N.   +4 more
europepmc   +1 more source

Krebs von den Lungen 6 decreased in the serum and muscle of GNE myopathy patients. [PDF]

Neuropathology, 2021
Kurashige T, Takahashi T, Nagano Y, Sugie K, Maruyama H.   +4 more
europepmc   +1 more source

Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy

, 2016
Mònica Bosch-Morató, Cinta Iriondo, Biuse Guivernau, Victòria Valls-Comamala, Noemí Vidal, Montse Olivé, Henry Querfurth, Francisco J. Muñoz   +7 more
openalex   +2 more sources

GNE Myopathy: Two Clusters with History and Several Founder Mutations

, 2015
Zohar Argov, Stella Mitrani‐Rosenbaum
openalex   +2 more sources

Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy. [PDF]

J Neuromuscul Dis, 2022
Mitrani-Rosenbaum S, Yakovlev L, Becker Cohen M, Argov Z, Fellig Y, Harazi A.   +5 more
europepmc   +1 more source

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion [PDF]

, 2017
Oksana Pogoryelova, P. Cammish, Hank Mansbach, Zohar Argov, Ichizo Nishino, Alison Skrinar, Yiu-mo Chan, Shahriar Nafissi, Hosein Shamshiri, Emil Kakkis, Hanns Lochmüller   +10 more
openalex   +1 more source

Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. [PDF]

J Neuromuscul Dis, 2021
Lochmüller H, Behin A, Tournev I, Tarnopolsky M, Horváth R, Pogoryelova O, Shah J, Koutsoukos T, Skrinar A, Kakkis E, Bedrosian CL, Mozaffar T.   +11 more
europepmc   +1 more source

Assessment of Lectin Staining Biomarkers using a Murine Model of GNE Myopathy. [PDF]

MicroPubl Biol
Parker O, Woods J, Rothkopf M, Drach D, Wetzel HN, Crowe KE.   +5 more
europepmc   +1 more source

Neuromuscular Organoids Recapitulate Defective Autophagy in GNE Myopathy and Highlight Therapeutic Rescue by PI3K Inhibition [PDF]

Hyuk‐Jin Cha, Dong Woo Kim, Eun‐Ji Kwon, Hyuk‐Sang Kwon, Jumee Kim   +4 more
openalex   +1 more source

GNE myopathy with thrombocytopenia: a case report and review of the literature

, 2021
Joshua Rim, Yuebing Li
openalex   +2 more sources