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Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
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GNE protein expression and subcellular distribution are unaltered in HIBM

Neurology, 2007
Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed. GNE protein is expressed at equal levels in HIBM patients and normal control subjects. Immunofluorescence detection
S. Krause, A. Aleo, S. Hinderlich, L. Merlini, I. Tournev, M. Walter, Z. Argov, S. Mitrani-Rosenbaum, Hanns Lochmüller   +8 more
exaly   +5 more sources

S.P.32 The HIBM Patient Monitoring Program (HIBM-PMP): Registry and natural history study to advance research and clinical management in Hereditary Inclusion Body Myopathy (HIBM or GNE Myopathy)

Neuromuscular Disorders, 2012
Abstract HIBM is an autosomal recessive, non-inflammatory, neuromuscular disorder caused by a defect in the biosynthetic pathway for sialic acid with no approved treatment. Given the rarity of the disease and the potential for novel therapies, there is a need to characterize the clinical presentation and progression of disease to support treatment ...
E. Kakkis, J. Ditton, A. Skrinar, R. Ahmed   +3 more
exaly   +3 more sources

Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM

Physiological Genomics, 2008
Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is characterized clinically by weakness and atrophy that initially involves the distal muscles and pathologically by the presence of rimmed vacuoles (RVs) or intracellular protein deposits in myofibers.
May Christine V Malicdan, Satoru Noguchi, Ichizo Nishino   +2 more
exaly   +4 more sources

Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran

Clinical Genetics, 2013
GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra‐rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP‐N‐acetyl)‐2‐epimerase/N‐acetylmannosamine kinase gene (GNE), resulting in ...
H. Khademian, E. Mehravar, J. Urtizberea, S. Sagoo, L. Sandoval, R. Carbajo, B. Darvish, Y. Valles-Ayoub, D. Darvish   +8 more
semanticscholar   +3 more sources

O.8 Treatment of hyposialylation in mouse model of DMRV/hIBM with novel synthetic sugar compounds

Neuromuscular Disorders, 2010
Tomoharu Tokutomi, M. C. V. Malicdan, Satoru Noguchi, I. Nonaka, Y. Hayashi, I. Nishino   +5 more
exaly   +3 more sources

Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives

Current Opinion in Neurology, 2008
Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic ...
M. Malicdan, S. Noguchi, I. Nishino
semanticscholar   +3 more sources

P2.09 A non-viral, GNE-lipoplex treatment to correct sialylation defects in hereditary inclusion body myopathy (HIBM)

Neuromuscular Disorders, 2010
T. Yardeni, I. Manoli, C. Ciccone, S. Hoogstraten-Miller, D. Darvish, Y. Anikster, P. Maples, C. Jay, William A. Gahl, J. Nemunaitis, M. Huizing   +10 more
exaly   +3 more sources

P.3.2 Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy

Neuromuscular Disorders, 2013
Hereditary inclusion body myopathy (HIBM) or GNE myopathy is caused by a defect in the biosynthetic pathway for sialic acid. Muscle weakness begins in adulthood in the distal legs and progresses over decades, although the quadriceps remain relatively strong.
J. Mayhew, Alison Skrinar, F. Bronstein, A. Esposito, Y. Feinsod-Meiri, J. Florence, Eileen Fowler, Marcia B. Greenberg, Elizabeth C. Malkus, O. Rebibo, C. Siener, Y. Caraco, E. Kolodny, Heather Lau, A. Pestronk, Perry B. Shieh, Z. Argov   +16 more
semanticscholar   +2 more sources