Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

By Lupo Vincenzo   Galindo Mximo I.   Martnez-Rubio Dolores   Sevilla Teresa   Vlchez Juan J.   Palau Francesc   Espins Carmen  

Human Molecular Genetics, Vol. 18, Iss. 23, 2009-12 ,pp. : 4603-4614

Oxford University Press

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An animal model for Charcot–Marie–Tooth disease type 4B1

By Bonneick Sonja   Boentert Matthias   Berger Philipp   Atanasoski Suzana   Mantei Ned   Wessig Carsten   Toyka Klaus V.   Young Peter   Suter Ueli  

Human Molecular Genetics, Vol. 14, Iss. 23, 2005-12 ,pp. : 3685-3695

Oxford University Press

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Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot–Marie–Tooth disease type 4B1

By Berger P.  

Human Molecular Genetics, Vol. 11, Iss. 13, 2002-06 ,pp. : 1569-1579

Oxford University Press

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GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

By Pedrola Laia  

Human Molecular Genetics, Vol. 14, Iss. 8, 2005-04 ,pp. : 1087-1094

Oxford University Press

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Muscle pathology without severe nerve pathology in a new mouse model of Charcot–Marie–Tooth disease type 2E

By Shen Hailian   Barry Devin M.   Dale Jeffrey M.   Garcia Virginia B.   Calcutt Nigel A.   Garcia Michael L.  

Human Molecular Genetics, Vol. 20, Iss. 13, 2011-07 ,pp. : 2535-2548

Oxford University Press

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