Results 131 to 140 of about 828 (162)

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
Sabine Krause, A. Aleo, Stephan Hinderlich, Luciano Merlini, Ivailo Tournev, Maggie C. Walter, Zohar Argov, Stella Mitrani‐Rosenbaum, Hanns Lochmüller   +8 more
openalex   +4 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, Antonio Esposito, Y. Feinsod-Meiri, Julaine Florence, Eileen Fowler, Marcia B. Greenberg, Elizabeth C. Malkus, O. Rebibo, Catherine Siener, Yoseph Caraco, Edwin H. Kolodny, Heather Lau, Alan Pestronk, Perry B. Shieh, Zohar Argov   +16 more
openalex   +2 more sources

G.P.29 Results from a pilot study of muscle strength and function in adults with Hereditary Inclusion Body Myopathy (HIBM)

Neuromuscular Disorders, 2012
Abstract Hereditary inclusion body myopathy (HIBM) is a severe progressive myopathy with onset in adulthood. Weakness begins in the distal muscles but progresses proximally over time, although the quadriceps remains the least affected muscle group. There is no approved treatment.
Alison Skrinar, J. Mayhew, Martina Maurer, Emil Kakkis   +3 more
openalex   +2 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. Andoni Urtizberea, S Sagoo, Lucía Sandoval, Rosangela Carbajo, Babak Darvish, Yadira Valles‐Ayoub, Daniel Darvish   +8 more
openalex   +3 more sources

T.P.13 A phase 1 safety and pharmacokinetic study of sialic acid-extended release tablets in patients with Hereditary Inclusion Body Myopathy (HIBM or GNE myopathy)

Neuromuscular Disorders, 2012
Abstract Hereditary Inclusion Body Myopathy (HIBM or GNE myopathy) is an autosomal recessive, non-inflammatory, neuromuscular disorder caused by a defect in the biosynthetic pathway for sialic acid (SA), which is required for the glycosylation of many proteins and lipids. There is no approved treatment for this disease.
Emil Kakkis, Martina Maurer, Pooja Shah, Mardik Donikyan, Ruhi Ahmed   +4 more
openalex   +2 more sources

P.3.7 A prodrug strategy to increase oral absorption and bioavailability of Sialic acid in an HIBM mouse model

Neuromuscular Disorders, 2013
Sialic acid (SA) is intended for use as a substrate replacement therapy for the treatment of hereditary inclusion body myopathy (HIBM or also DMRV, now known as GNE Myopathy), a severe, neuromuscular disease caused by a defect in the sialic acid biosynthetic pathway.
Gordon A. Morris, Yiu‐Ngok Chan, Jeffrey H. Grubb, Steve Jungles, Emil Kakkis   +4 more
openalex   +2 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, S. Noguchi, Yukiko Hayashi, Ichizo Nishino   +3 more
openalex   +3 more sources

IN58-TH-02 Hereditary inclusions body myopathies (HIBM)

Journal of the Neurological Sciences, 2009
Zohar Argov
openalex   +2 more sources

D.P.3.06 Amyloidogenesis in a mouse model of DMRV/hIBM

Neuromuscular Disorders, 2008
May Christine V. Malicdan, S. Noguchi, Yukiko Hayashi, Ikuya Nonaka, Ichizo Nishino   +4 more
openalex   +2 more sources

O.18 Zebrafish as a model system for GNE mediated hereditary inclusion body myopathy (HIBM)

Neuromuscular Disorders, 2011
Alon Daya, Michal Becker‐Cohen, Yoav Gothilf, Shaojun Du, Stella Mitrani‐Rosenbaum   +4 more
openalex   +2 more sources