The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: A systematic review-Reference-Cited by-同舟云学术

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The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: A systematic review

Published:2014-11 Issue:1-2 Volume:346 Page:35-42
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Porro Francesca,Rinchetti Paola,Magri Francesca,Riboldi Giulietta,Nizzardo Monica,Simone Chiara,Zanetta Chiara,Faravelli Irene,Corti Stefania

Funder

Associazione Amici del Centro Dino Ferrari

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference45 articles.

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

2. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease;Guenter;J Mol Med,2009

3. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings;Rudnik-Schoneborn;Neuropediatrics,1996

4. Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1);Appleton;Dev Med Child Neurol,2004

5. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man;Pierson;Neuromuscul Disord,2011

Cited by 31 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. ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity;JCI Insight;2023-01-24

4. Disease-modifying pharmacotherapies;Pulmonary Assessment and Management of Patients with Pediatric Neuromuscular Disease;2023

5. Congenital non-5q spinal muscular atrophy in children;Neurologie pro praxi;2022-03-14

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