Results 131 to 140 of about 1,629 (185)

Inclusion body myositis: pathomechanism and lessons from genetics [PDF]

, 2017
Bodoki, Levente, Csonka, Tamás, Dankó, Katalin, Griger, Zoltán, Hortobágyi, Tibor, Kurucz, Andrea, Murnyák, Balázs, Nagy-Vincze, Melinda, Szepesi, Rita   +8 more
core  

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

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases [PDF]

, 2013

core   +1 more source

Complement-mediated neuronal loss by sialic acid glycocalyx alterations [PDF]

Every neuronal cell is covered with a dense structure of glycoconjugates, the glycocalyx. Sialic acids form the terminal ends of the glycocalyx and thus, are more accessible for the cellular environment. Microglia, the brain macrophages constantly survey
Klaus, Christine
core  

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

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