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
A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3.
Liu H et al.
Frontiers in Neurology, 2024
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.
Journal of Neuromuscular Diseases, 2022
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari S et al.
Genes, 2021
34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS2_26-09-2021.xlsx › CTGA-unique_variants
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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