Results 91 to 100 of about 26,442 (131)

GNE genotype explains 20% of phenotypic variability in GNE myopathy

, 2019
Objective: To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries. Methods: Systematic literature review identified 11 articles reporting 759 patients.
Argov, Zohar, Mansbach, Hank, Lochmüller, Hanns, Wilson, Ian J., Nishino, Ichizo, Pogoryelova, Oksana   +5 more
core   +1 more source

Exploring the multifaceted role of GNE in GNE myopathy [PDF]

101080249) and the Canada Research Coordinating Committee New Frontiers in Research Fund (NFRFG-2022-00033) for SIMPATHIC, and from the Government of Canada First Research Excellence Fund (CFREF) for the Brain-Heart Interconnectome (CFREF-2022-00007 ...
Pereira, Beatriz L., Lochmüller, Hanns, Barbosa, Mariana, Granjo, Pedro, Videira, Paula A.   +4 more
core   +1 more source

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy

, 2015
GNE myopathy is an autosomal recessive distal myopathy caused by biallelic mutation in the GNE gene. It shows great genetic heterogeneity among different ethnic groups.
Hong, Daojun, Yuan, Yun, Zhang, Wei, Chen, Juanjuan, Zhao, Juan, Lv, He, Wang, Zhaoxia   +6 more
core   +1 more source

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

Frontiers in Genetics
IntroductionGNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.MethodsIn this study, we ...
Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Leila Akhmadeeva, Polina Chausova, Oksana Ryzhkova, Rena Zinchenko, Sergey Kutsev, Aysylu Murtazina   +10 more
doaj   +1 more source

Immunoblots of AβPP and p-tau in control and GNE myopathy muscle biopsies.

, 2013
A: Immunoblots of muscle homogenates of two normal control and five GNE myopathy muscle biopsies demonstrate in GNE myopathy a much stronger expression of AβPP and p-tau as compared to control muscle biopsies.
Shuping Liu (385280), Wei Li (7081), Chuanzhu Yan (385282), Xuemei Zhang (89768), Fuchen Liu (385279), Qi Chen (144168), Yuying Zhao (385281), Honghao Li (385278), Yaoqin Gong (164943)   +8 more
core   +1 more source

The role of amyloid β in the pathological mechanism of GNE myopathy. [PDF]

Neurol Sci, 2022
Zhang T, Shang R, Miao J.
europepmc   +1 more source

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan. [PDF]

J Neuromuscul Dis, 2023
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

Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy. [PDF]

Neurology, 2021
Liu CY, Yao J, Kovacs WC, Shrader JA, Joe G, Ouwerkerk R, Mankodi AK, Gahl WA, Summers RM, Carrillo N.   +9 more
europepmc   +1 more source

GNE Myopathy: 25 Years After Gene Identification-Facts, Controversies, Enigmas, Prospects. [PDF]

J Clin Med
Mitrani-Rosenbaum S, Argov Z.
europepmc   +1 more source

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study. [PDF]

Genet Med, 2021
Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, Perreault J, Heiss JD, Class B, Liu CY, Bradley K, Jodarski C, Ciccone C, Driscoll C, Parks R, Van Wart S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA.   +21 more
europepmc   +1 more source