Results 121 to 130 of about 1,067 (171)

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

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

Erratum to: Progression of GNE Myopathy Based on the Patient-Reported Outcome. [PDF]

J Clin Neurol, 2020
Park YE, Kim DS, Choi YC, Shin JH.
europepmc   +1 more source

Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis. [PDF]

J Neuromuscul Dis
Suzuki N, Mori-Yoshimura M, Nishino I, Aoki M.   +3 more
europepmc   +1 more source

Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients. [PDF]

Neurol Genet
Sun H, Zheng F, Yu J, Meng L, Gang Q, Lv H, Zhang W, Yuan Y, Yu M, Wang Z.   +9 more
europepmc   +1 more source

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases. [PDF]

Hum Mutat
Derksen A, Thompson R, Shaikh M, Spendiff S, Perkins TJ, Lochmüller H.   +5 more
europepmc   +1 more source

Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study. [PDF]

J Neurol Neurosurg Psychiatry
Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M.   +17 more
europepmc   +1 more source

A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy. [PDF]

Medicine (Baltimore), 2020
Miao J, Wei XJ, Wang X, Yin X, Yu XF.
europepmc   +1 more source

GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. [PDF]

J Neuromuscul Dis
Baskar D, Reddy N, Preethish-Kumar V, Polavarapu K, Nishadham V, Vengalil S, Nashi S, Sanka SB, Bardhan M, Huddar A, Unnikrishnan G, Harikrishna GV, Gunasekaran S, Thomas PT, Keerthipriya MS, Girija MS, Arunachal G, Anjanappa RM, Nishino I, Pogoryelova O, Lochmuller H, Nalini A.   +21 more
europepmc   +1 more source

Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset. [PDF]

Intern Med
Sakai K, Yamada S, Higuchi Y, Nishino I.
europepmc   +1 more source