Associated Papers
The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.
Torres FJL et al.
Neurobiology of Disease, 2025
The Ighmbp2 -R604X mouse recapitulates the severe SMARD1 clinical symptoms of aspiration, respiratory and feeding deficits.
Torres FJL et al.
Biorxiv : the Preprint Server for Biology, 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
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients.
Tran VK et al.
Frontiers in Pediatrics, 2024
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Smith CE et al.
Human Molecular Genetics, 2022
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X et al.
European Journal of Neurology, 2020
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
Clinical diversity caused by novel IGHMBP2 variants.
Yuan JH et al.
Journal of Human Genetics, 2017
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
Luan X et al.
Brain & Development, 2016
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E et al.
American Journal of Human Genetics, 2014
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Guenther UP et al.
Human Mutation, 2007
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K et al.
Annals of Neurology, 2003
Genetic landscape of Charcot-Marie-Tooth disease in Vietnam: A prospective multicenter study.
Nghia HTT et al.
Journal of Neuromuscular Diseases, 0
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