Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G αB-crystallin mutant

By Chávez Zobel A.T.   Loranger A.   Marceau N.   Thériault J.R.   Lambert H.   Landry J.  

Human Molecular Genetics, Vol. 12, Iss. 13, 2003-07 ,pp. : 1609-1620

Oxford University Press

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Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

By Bachetti Tiziana   Matera Ivana   Borghini Silvia   Duca Marco Di   Ravazzolo Roberto   Ceccherini Isabella  

Human Molecular Genetics, Vol. 14, Iss. 13, 2005-07 ,pp. : 1815-1824

Oxford University Press

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Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms

By Pymar Louis S.   Platt Fiona M.   Askham Jon M.   Morrison Ewan E.   Knowles Margaret A.  

Human Molecular Genetics, Vol. 17, Iss. 13, 2008-07 ,pp. : 2006-2017

Oxford University Press

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MUSK , a new target for mutations causing congenital myasthenic syndrome

By Chevessier Frédéric  

Human Molecular Genetics, Vol. 13, Iss. 24, 2004-12 ,pp. : 3229-3240

Oxford University Press

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A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

By Monnier Nicole  

Human Molecular Genetics, Vol. 12, Iss. 10, 2003-05 ,pp. : 1171-1178

Oxford University Press

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