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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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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RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration

By Lin Hong   Zhai Jinbin   Schlaepfer William W.  

Human Molecular Genetics, Vol. 14, Iss. 23, 2005-12 ,pp. : 3643-3659

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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A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes

By Ackerley Steven   James Paul A.   Kalli Arran   French Sarah   Davies Kay E.   Talbot Kevin  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 347-354

Oxford University Press

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