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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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

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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

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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

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Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

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Molecular Syndromology, Vol. 3, Iss. 5, 2012-10 ,pp. : 204-214

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