Results 91 to 100 of about 1,200 (179)

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

Insights into muscle degeneration from heritable inclusion body myopathies

Frontiers in Aging Neuroscience, 2015
Muscle mass and function is gradually lost in age-related, degenerative neuromuscular disorders which also reflect the clinical hallmarks of sarcopenia.
Sabine eKrause
doaj   +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

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

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

, 2015
Alireza Haghighi, Alireza Haghighi, Shahriar Nafissi, Abrar Qurashi, Zheng Tan, Hosein Shamshiri, Yalda Nilipour, Amirreza Haghighi, Amirreza Haghighi, Robert J. Desnick, Ruth Kornreich   +10 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

847. Safety and Toxicity Profile of Intra-Muscular and Systemic Delivery of a Novel GNE DNA Liposomal Nanoparticle (GDLP) for Gene Therapy of Hereditary Inclusion Body Myopathy (HIBM2) [PDF]

, 2008

openalex   +1 more source

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy [PDF]

, 2019
Hanns Lochmüller, Anthony Béhin, Yoseph Caraco, Heather Lau, Massimiliano Mirabella, Ivailo Tournev, Mark A. Tarnopolsky, Oksana Pogoryelova, C. G. Woods, Alexander C. Lai, Jinay Shah, Tony Koutsoukos, Alison Skrinar, Hank Mansbach, Emil Kakkis, Tahseen Mozaffar   +15 more
openalex   +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