Associated Papers
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 › Published_CMT4B3_Patients
Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene.
Jacobs EH et al.
Stem Cell Research, 2024
A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3.
Liu H et al.
Frontiers in Neurology, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM11_ESM.xlsx › Sheet1
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
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
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 2015
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