Associated Papers
Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S.
Smieszek S et al.
Molecular Therapy. Nucleic Acids, 2025
Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.
Yavas C et al.
Brain & Development, 2025
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
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.
Rzepnikowska W et al.
International Journal of Molecular Sciences, 2022
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Smith CE et al.
Human Molecular Genetics, 2022
Next-Generation Sequencing Technologies and Neurogenetic Diseases.
Sun H et al.
Life (basel, Switzerland), 2021
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Cassini TA et al.
Molecular Genetics & Genomic Medicine, 2019
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
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
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Maystadt I et al.
Human Mutation, 2004
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K et al.
Annals of Neurology, 2003
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