Results 111 to 120 of about 1,629 (185)

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics, 2011
Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 more
doaj   +1 more source

Myopathie GNE [PDF]

médecine/sciences, 2015
J. Andoni Urtizberea, Anthony Béhin
openaire   +1 more source

Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source

Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression

Case Reports in Neurology, 2012
We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with
Yasuko Ikeda-Sakai, Yasuhiro Manabe, Daiki Fujii, Syoichiro Kono, Hisashi Narai, Nobuhiko Omori, Ichizo Nishino, Koji Abe   +7 more
doaj   +1 more source

GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation [PDF]

GNE myopathy (GNEM) is a late-onset muscle atrophy, caused by mutations in the gene for the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE).
Bork, Kaya, Gesper, Astrid, Horstkorte, Rüdiger, Neu, Carolin T., Weilepp, Linus   +4 more
core   +1 more source

Phenotypic diversity in an international Cure VCP Disease registry [PDF]

, 2020
BACKGROUND: Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy, Paget\u27s disease of bone, and frontotemporal dementia also termed multisystem proteinopathy (MSP).
Findlay, Andrew R, Ikenaga, Chiseko, Johnson, Nicholas E, Peck, Allison, Peck, Nathan, Seiffert, Michelle, Statland, Jeffrey M, Weihl, Conrad C   +7 more
core   +1 more source

a quantitative study using the brief resilience coping scale (BRCS) [PDF]

Funding Information: We would like to express our deepest gratitude for the invaluable financial support received from collective donations made by families affected by CDG and professionals in the field.
dos Reis Ferreira, Vanessa, Gomes, Ana Isabel, Granjo, Pedro, Poejo, Joana   +3 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

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

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network [PDF]

, 2016
Akemi Tamaura, En Kimura, Eri Takeshita, Harumasa Nakamura, Hirofumi Komaki, Katsuhisa Ogata, Maki Ohata, Reiko Shimizu, Shin’ichi Takeda   +8 more
core   +1 more source