MORC2mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs-Reference-Cited by-同舟云学术

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MORC2mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

Published:2016-01-13 Issue:3 Volume:79 Page:419-427
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Albulym Obaid M.¹²,Kennerson Marina L.¹²³,Harms Matthew B.⁴,Drew Alexander P.¹²,Siddell Anna H.¹²,Auer-Grumbach Michaela⁵,Pestronk Alan⁴,Connolly Anne⁴,Baloh Robert H.⁶,Zuchner Stephan⁷,Reddel Stephen W.¹²³,Nicholson Garth A.¹²³

Affiliation:

1. Northcott Neuroscience Laboratory, ANZAC Research Institute; Concord NSW Australia

2. Sydney Medical School; University of Sydney; Sydney NSW Australia

3. Molecular Medicine Laboratory, Concord Hospital; Concord NSW Australia

4. Department of Neurology; Washington University School of Medicine; St Louis MO

5. Department of Orthopedics; Medical University of Vienna; Vienna Austria

6. Department of Neurology; Cedars Sinai Medical Center; Los Angeles CA

7. Dr John T. MacDonald Department of Human Genetics and John P. Hussman Institute for Human Genomics; University of Miami; Miami FL

Funder

National Health and Medical Research Council

Austrian Science Fund

NIH National Institute of Neurological Disorders and Stroke

Children's Discovery Institute

Kingdom of Saudi Arabia

Family Trust of Lord Selborne

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24575/fullpdf

Reference24 articles.

1. Genetic aspects of hereditary motor and sensory neuropathy (types I and II);Harding;J Med Genet,1980

2. The MFN2 V705I variant is not a disease-causing mutation: a segregation analysis in a CMT2 family;Albulym;J Neurodegener Dis,2013

3. CMT with pyramidal features. Charcot-Marie-Tooth;Vucic;Neurology,2003

4. Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations;Zhu;Neurology,2005

5. Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred;Frith;J Neurol Neurosurg Psychiatry,1994

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