Associated Papers
The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China.
Wang Y et al.
Frontiers in Genetics, 2025
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.
Liu L et al.
Journal of the Peripheral Nervous System : Jpns, 2024
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.
Tian Y et al.
Frontiers in Neuroscience, 2023
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
Taiana M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX et al.
Clinical Genetics, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s005.xlsx › Sheet2
An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).
Wu S et al.
European Journal of Medical Genetics, 2018
[Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1].
Zhang B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.
Litvinenko I et al.
Journal of Child Neurology, 2014
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.
Giannini A et al.
Intensive Care Medicine, 2006
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