Associated Papers
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
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X et al.
European Journal of Neurology, 2020
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L et al.
Neuromuscular Disorders : Nmd, 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
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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