Associated Papers
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003
Characterization of a novel zebrafish model of MTMR5-associated Charcot-Marie-Tooth disease type 4B3.
Lindzon J et al.
Brain Communications, 2025
40066109 (PubMed )
Supplement: fcaf077_supplementary_data.zip › Supplementary_Table1_patientmutations.xlsx › ClinVar_SBF1_mutations
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.
Mammel AE et al.
Human Molecular Genetics, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1
Genomic Analysis of Korean Patient With Microcephaly.
Lee J et al.
Frontiers in Genetics, 2020
33584783 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3
Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.
Flusser H et al.
Clinical Genetics, 2018
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.
Manole A et al.
Neurogenetics, 2017
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.
Romani M et al.
Neurology. Genetics, 2016
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