Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2-Reference-Cited by-同舟云学术

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Published:2014-11 Issue:5 Volume:95 Page:590-601
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Cottenie Ellen,Kochanski Andrzej,Jordanova Albena,Bansagi Boglarka,Zimon Magdalena,Horga Alejandro,Jaunmuktane Zane,Saveri Paola,Rasic Vedrana Milic,Baets Jonathan,Bartsakoulia Marina,Ploski Rafal,Teterycz Pawel,Nikolic Milos,Quinlivan Ros,Laura Matilde,Sweeney Mary G.,Taroni Franco,Lunn Michael P.,Moroni Isabella,Gonzalez Michael,Hanna Michael G.,Bettencourt Conceicao,Chabrol Elodie,Franke Andre,von Au Katja,Schilhabel Markus,Kabzińska Dagmara,Hausmanowa-Petrusewicz Irena,Brandner Sebastian,Lim Siew Choo,Song Haiwei,Choi Byung-Ok,Horvath Rita,Chung Ki-Wha,Zuchner Stephan,Pareyson Davide,Harms Matthew,Reilly Mary M.,Houlden Henry

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference52 articles.

1. Genetic and clinical aspects of Charcot-Marie-Tooth’s disease;Skre;Clin. Genet.,1974

2. Charcot-Marie-Tooth disease and pathways to molecular based therapies;Harel;Clin Genet.,2014

3. Diagnosis and new treatments in genetic neuropathies;Reilly;J. Neurol. Neurosurg. Psychiatry,2009

4. Inherited peripheral neuropathies;Saporta;Neurol. Clin.,2013

5. Inherited peripheral neuropathies;Shy;Continuum (Minneap Minn).,2011

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