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Hereditary Inclusion Body Myopathy: A decade of progress [PDF]

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2009
Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, quadriceps sparing type commonly referred to as HIBM but also termed h-IBM or Inclusion Body Myopathy 2 (IBM2).
Marjan Huizing, Donna M Krasnewich
exaly   +2 more sources

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy†‡

Human Mutation, 2004
The most common form of autosomal recessive (AR) hereditary inclusion-body myopathy (HIBM), originally described in Persian-Jewish families, is characterized by onset in early adult life with weakness and atrophy of distal lower limb muscles, which ...
Aldobrando Broccolini, Serenella Servidei, Federico Zara   +2 more
exaly   +2 more sources

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Hereditary Inclusion Body Myopathy (HIBM2)

Gene Regulation and Systems Biology, 2009
John Nemunaitis
exaly  

GNE protein expression and subcellular distribution are unaltered in HIBM

Neurology, 2007
Stella Mitrani-Rosenbaum, Luciano Merlini, Sabine Krause   +2 more
exaly  

Novel GNE mutations in two phenotypically distinct HIBM2 patients

Neuromuscular Disorders, 2011
Robert H Baloh, Conrad C. Weihl, Alan Pestronk   +2 more
exaly  

Preclinical assessment of wt GNE gene plasmid for management of hereditary inclusion body myopathy 2 (HIBM2).

Gene Regulation and Systems Biology, 2008
Stephan Hinderlich, Neil Senzer
exaly  

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

Nature Medicine, 2009
Satoru Noguchi, Ichizo Nishino, May Christine V Malicdan   +2 more
exaly  

Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events

Cell Death and Differentiation, 2007
Stella Mitrani-Rosenbaum, Sabine Krause, Hanns Lochmüller   +2 more
exaly  

Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

Glycobiology, 2010
Marjan Huizing, Tal Yardeni
exaly  

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
Satoru Noguchi, Ichizo Nishino, May Christine V Malicdan   +2 more
exaly