News & Publications for:

Chris Weihl

Novel GNE mutations in two phenotypically distinct HIBM2 patients

Posted on October 24, 2011

Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M (2011). Neuromuscul Disord, 21(2):102-5
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Posted in: HPAN, Neurodegeneration, Publications Faculty: , ,

A knock-in mouse model for the R120G mutation of AlphaB-crystallin recapitulates human hereditary myopathy and cataracts

Posted on October 24, 2011

Andley UP, Hamilton PD, Ravi N, Weihl CC (2011). PLoS One, 6(3):e17671
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Posted in: HPAN, Neurodegeneration, Publications Faculty:

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

Posted on October 14, 2011

Ritz D, Vuk M, Kirchner P, Bug M, Schütz S, Hayer A, Bremer S, Lusk C, Baloh RH, Lee H, Glatter T, Gstaiger M, Aebersold R, Weihl CC, Meyer H (2011). Nat Cell Biol, 13(9):1116-23
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Posted in: HPAN, Neurodegeneration, Publications Faculty: ,

Mitochondrial pathology in immune and inflammatory myopathies

Posted on October 24, 2010

Varadhachary AS, Weihl CC, Pestronk A (2010). Curr Opin Rheumatol, 22(6):651-7
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Posted in: HPAN, Neurodegeneration, Publications Faculty: ,