Results 111 to 120 of about 1,995 (205)

Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)

Rinsho Shinkeigaku, 2012
Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy, for which new nomenclature "GNE myopathy" is now proposed, is an autosomal recessive disease that preferentially affects tibialis anterior and hamstrings muscles in young adults.
Ichizo, Nishino, Satoru, Noguchi
openaire   +3 more sources

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

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

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj  

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study [PDF]

, 2007
BACKGROUND: Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment.
Ciccone, Carla, Dalakas, Marinos C, Dorward, Heidi, Gahl, William A, Harris-Love, Michael, Huizing, Marjan, Joe, Galen, Krasnewich, Donna, Manoli, Irini, Rakocevic, Goran, Shrader, Joseph, Sonies, Barbara, Sparks, Susan   +12 more
core   +2 more sources

Myopathie GNE [PDF]

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

578. Manufacturing and Stability Testing of a GNE-Lipoplex for a Clinical Trial for the Treatment of Hereditary Inclusion Body Myopathy Type (HIBM) [PDF]

, 2010

openalex   +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

Genetics of GNE myopathy in the non-Jewish Persian population [PDF]

, 2015
Alireza Haghighi, Shahriar Nafissi, Abrar Qurashi, Zheng Tan, Hosein Shamshiri, Yalda Nilipour, Amirreza Haghighi, Robert J. Desnick, Ruth Kornreich   +8 more
openalex   +1 more source

560. GNE Gene Replacement in Hereditary Inclusion Body Myopathy [PDF]

, 2006
Phillip B. Maples, Daniel Darvish, Gregory Nemunaitis, Esther H. Chang, Julie Ogden, John Nemunaitis   +5 more
openalex   +1 more source