Results 171 to 176 of about 990 (176)

Mutations spectrum ofGNE in hereditary inclusion body myopathy sparing the quadriceps

Human Mutation, 2003
Hagit Hochner, Luciano Merlini, Stella Mitrani-Rosenbaum   +2 more
exaly  

The homozygous M712T mutation of UDP-N -acetylglucosamine 2-epimerase/N -acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy

FEBS Letters, 2004
Stella Mitrani-Rosenbaum
exaly  

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

Cell Death and Differentiation, 2007
exaly  

Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2)

Gene Regulation and Systems Biology, 2008
exaly  

Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy

Neuromuscular Disorders, 2005
exaly