Results 121 to 130 of about 1,200 (179)

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

Panchakarma Based Therapeutic Interventions in GNE Myopathy- Insights Through A Case Study

Soundarya Nagappa Satapute, Shakuntala S Pujeri   +1 more
openalex   +2 more sources

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

Novel Mutations of theGNEGene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression [PDF]

, 2012
Yasuko Ikeda‐Sakai, Yasuhiro Manabe, Daiki Fujii, Syoichiro Kono, Hisashi Narai, Nobuhiko Omori, Ichizo Nishino, Kōji Abe   +7 more
openalex   +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 of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy [PDF]

, 2013
Jae Eun Sim, Ji‐Man Hong, Gyoung Im Suh, Hanna Cho, Kyung Seok Park, Eun-Hee Sohn, Young‐Chul Choi   +6 more
openalex   +1 more source

GNE myopathy: New name and new mutation nomenclature

, 2014
Marjan Huizing, Nuria Carrillo, May Christine V. Malicdan, S. Noguchi, William A. Gahl, Stella Mitrani‐Rosenbaum, Zohar Argov, Ichizo Nishino   +7 more
openalex   +2 more sources

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