Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells-Reference-Cited by-同舟云学术

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells

Published:2014-03 Issue:2 Volume:18 Page:183-192
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Jędrzejowska Maria,Madej-Pilarczyk Agnieszka,Fidziańska Anna,Mierzewska Hanna,Pronicka Ewa,Obersztyn Ewa,Gos Monika,Pronicki Maciej,Kmieć Tomasz,Migdał Marek,Mierzewska-Schmidt Magdalena,Walczak-Wojtkowska Iwona,Konopka Elżbieta,Hausmanowa-Petrusewicz Irena

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference24 articles.

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2. Interfamilial phenotypic heterogeneity in SMARD1;Joseph;Neuromuscul Disord,2009

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

4. The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1);Eckart;Pediatrics,2012

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

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1. Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report;Heliyon;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. Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene;Genes;2022-04-21

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