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
Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.
Ricardez Hernandez SM et al.
Experimental Neurology, 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
The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association.
Vadla GP et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Smith CE et al.
Human Molecular Genetics, 2022
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
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