Early infantile sensory-motor neuropathy with late onset respiratory distress-Reference-Cited by-同舟云学术

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Early infantile sensory-motor neuropathy with late onset respiratory distress

Published:2014-03 Issue:3 Volume:24 Page:269-271
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Blaschek Astrid,Gläser Dieter,Kuhn Marius,Schroeder Andreas Sebastian,Wimmer Cornelius,Heimkes Bernd,Schön Carola,Müller-Felber Wolfgang

Publisher

Elsevier BV

Subject

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

Reference10 articles.

1. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis;Guenther;Hum Mutat,2007

2. Spinal muscular atrophy with respiratory distress type 1 (SMARD1);Kaindl;J Child Neurol,2008

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

4. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1);Guenther;Hum Mol Genet,2009

5. The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1;Lim;Nucleic Acids Res,2012

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Disease Mechanisms and Therapeutic Approaches in SMARD1—Insights from Animal Models and Cell Models;Biomedicines;2024-04-11

2. Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review;Frontiers in Neuroscience;2023-11-17

3. Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases;Brain;2022-11-29

4. Models for IGHMBP2-associated diseases: an overview and a roadmap for the future;Neuromuscular Disorders;2021-12

5. Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1): Are We Diagnosing Yet?;Journal of Pediatric Neurology;2021-01-06

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