IGHMBP2 mutation associated with organ-specific autonomic dysfunction-Reference-Cited by-同舟云学术

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Published:2018-12 Issue:12 Volume:28 Page:1012-1015
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Tomaselli Pedro J.^ORCID,Horga Alejandro,Rossor Alexander M.^ORCID,Jaunmuktane Zane,Cortese Andrea,Blake Julian C.,Zarate-Lopez Natalia^ORCID,Houlden Henry,Reilly Mary M.

Funder

Wellcome Trust Postdoctoral Fellowship

Medical Research Council

National Institutes of Neurological Diseases and Stroke and office of Rare Diseases

INC

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference7 articles.

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2. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1;Grohmann;Nat Genet,2001

3. Truncating and missense mutations in IGHMBP2 cause Charcot–Marie tooth disease type 2;Cottenie;Am J Hum Genet,2014

4. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy;Schottmann;Neurology,2015

5. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells;Jedrzejowska;Eur J Paediatr Neurol,2014

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