Mutations in the neurofilament light chain gene ( NEFL ) cause early onset severe Charcot–Marie–Tooth disease

ISSN： 1460-2156

Source： Brain, Vol.126, Iss.3, 2003-03, pp. : 590-597

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Early onset severe and late-onset mild Charcot–Marie–Tooth disease with mitofusin 2 (MFN2) mutations

By Chung K. W. Kim S. B. Park K. D. Choi K. G. Lee J. H. Eun H. W. Suh J. S. Hwang J. H. Kim W. K. Seo B. C. Kim S. H. Son I. H. Kim S. M. Sunwoo I. N. Choi B. O.

Brain, Vol. 129, Iss. 8, 2006-08 ,pp. : 2103-2118

Oxford University Press

Access to resources Recommend Favorite

Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan

By Yamamoto Masahiko Yoshihara Tsuyoshi Hattori Naoki Sobue Gen

Neurogenetics, Vol. 5, Iss. 1, 2004-02 ,pp. : 75-77

Springer Publishing Company

Access to resources Recommend Favorite

Pathomechanisms of Mutant Proteins in Charcot-Marie-Tooth Disease

NeuroMolecular Medicine, Vol. 8, Iss. 1-2, 2006-03 ,pp. : 217-242

Humana Press, Inc

Access to resources Recommend Favorite

Clinical and Electrophysiological Aspects of Charcot-Marie-Tooth Disease

NeuroMolecular Medicine, Vol. 8, Iss. 1-2, 2006-03 ,pp. : 3-22

Humana Press, Inc

Access to resources Recommend Favorite

Molecular cell biology of Charcot-Marie-Tooth disease

By Berger Philipp Young Peter Suter Ueli

Neurogenetics, Vol. 4, Iss. 1, 2002-03 ,pp. : 1-15

Springer Publishing Company

Access to resources Recommend Favorite