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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Charcot–Marie–Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport

By Brownlees J.   Ackerley S.   Grierson A.J.   Jacobsen N.J.O.   Shea K.   Anderton B.H.   Leigh P.N.   Shaw C.E.   Miller C.C.J.  

Human Molecular Genetics, Vol. 11, Iss. 23, 2002-11 ,pp. : 2837-2844

Oxford University Press

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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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Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot–Marie–Tooth disease mutants

By Sasaki Takahiro   Gotow Takahiro   Shiozaki Motoko   Sakaue Fumika   Saito Taro   Julien Jean-Pierre   Uchiyama Yasuo   Hisanaga Shin-Ichi  

Human Molecular Genetics, Vol. 15, Iss. 6, 2006-03 ,pp. : 943-952

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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