Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man-Reference-Cited by-同舟云学术

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Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

Published:2011-05 Issue:5 Volume:21 Page:353-355
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Pierson Tyler Mark,Tart Gary,Adams David,Toro Camilo,Golas Gretchen,Tifft Cynthia,Gahl William

Publisher

Elsevier BV

Subject

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

Reference16 articles.

1. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease;Mellins;Pediatrics,1974

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. Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy;Maddatu;Hum Mol Genet,2004

5. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1;Pitt;Brain,2003

Cited by 24 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. The molecular mechanisms that underlie IGHMBP2‐related diseases;Neuropathology and Applied Neurobiology;2024-08

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. Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model;International Journal of Molecular Sciences;2022-08-31

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

5. Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1;Pediatric Neurology;2021-01

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