A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

By Malicdan May Christine V.   Noguchi Satoru   Nonaka Ikuya   Hayashi Yukiko K.   Nishino Ichizo  

Human Molecular Genetics, Vol. 16, Iss. 2, 2007-01 ,pp. : 115-128

Oxford University Press

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Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1

By Mitrani-Rosenbaum Stella  

Human Molecular Genetics, Vol. 5, Iss. 1, 1996-01 ,pp. : 159-163

Oxford University Press

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Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation

By Weihl Conrad C.   Dalal Seema   Pestronk Alan   Hanson Phyllis I.  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 189-199

Oxford University Press

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Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice

By Weihl Conrad C.   Miller Sara E.   Hanson Phyllis I.   Pestronk Alan  

Human Molecular Genetics, Vol. 16, Iss. 8, 2007-04 ,pp. : 919-928

Oxford University Press

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mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy

By Ching James K.   Elizabeth Sarita V.   Ju Jeong-Sun   Lusk Caleb   Pittman Sara K.   Weihl Conrad C.  

Human Molecular Genetics, Vol. 22, Iss. 6, 2013-03 ,pp. : 1167-1179

Oxford University Press

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