A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 ( PDK3 ) gene

By Kennerson Marina L.   Yiu Eppie M.   Chuang David T.   Kidambi Aditi   Tso Shih-Chia   Ly Carolyn   Chaudhry Rabia   Drew Alexander P.   Rance Gary   Delatycki Martin B.   Züchner Stephan   Ryan Monique M.   Nicholson Garth A.  

Human Molecular Genetics, Vol. 22, Iss. 7, 2013-04 ,pp. : 1404-1416

Oxford University Press

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Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models

By Perez-Olle Raul   Jones Sidonie T.   Liem Ronald K.H.  

Human Molecular Genetics, Vol. 13, Iss. 19, 2004-10 ,pp. : 2207-2220

Oxford University Press

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Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33

By LeGuern E.   Guilbot A.   Kessali M.   Ravisé N.   Tassin J.   Maisonobe T.   Grid D.   Brice A.  

Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1685-1688

Oxford University Press

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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease

By Bareil C.  

Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 415-421

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Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to CharcotMarieTooth disease-linked mutations in NFL and HSPB1

By Zhai Jinbin   Lin Hong   Julien Jean-Pierre   Schlaepfer William W.  

Human Molecular Genetics, Vol. 16, Iss. 24, 2007-12 ,pp. : 3103-3116

Oxford University Press

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