Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands-Reference-Cited by-同舟云学术

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

Published:2013-06 Issue:6 Volume:23 Page:461-468
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Stalpers Xenia L.,Verrips Aad,Poll-The Bwee Tien,Cobben Jan-Maarten,Snoeck Irina N.,de Coo Irenaeus F.M.,Brooks Alice,Bulk Saskia,Gooskens Rob,Fock Annemarie,Verschuuren-Bemelmans Corien,Sinke Richard J.,de Visser Marianne,Lemmink Henny H.

Publisher

Elsevier BV

Subject

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

Reference19 articles.

1. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1);Rudnik-Schoneborn;Neuropediatrics,2004

2. Mutation of gene in spinal muscular atrophy respiratory distress type 1;Wong;Pediatr Neurol,2006

3. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1);Grohmann;Ann Neurol,2003

4. Spinal muscular atrophy with respiratory distress type 1;Kaindl;J Child Neurol,2008

5. Infantile spinal muscular atrophy with respirtory distress type 1: a case report;AlSaman;J Child Neurol,2010

Cited by 17 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. Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report;Heliyon;2024-08

2. The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)—A Report of Three Cases, Including Twins;Genes;2024-07-30

3. Newborn Screening for Neuromuscular Disorders, Disorders of Glycogen Metabolism, and Fatty Acid Oxidation;OBM Genetics;2024-04-18

4. In Vitro Modeling as a Tool for Testing Therapeutics for Spinal Muscular Atrophy and IGHMBP2-Related Disorders;Biology;2023-06-16

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