Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review.
Ma X et al.
Frontiers in Neurology, 2023
37470010 (PubMed )
Supplement: Table_1.docx
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
Yalcouyé A et al.
Journal of the Peripheral Nervous System : Jpns, 2022
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
35331287 (PubMed )
Supplement: 13023_2022_2280_MOESM1_ESM.xlsx › Sheet1
Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.
Uchôa Cavalcanti EB et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
Taghizadeh S et al.
Archives of Iranian Medicine, 2020
Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.
Chen YH et al.
The Journal of International Medical Research, 2020
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
Tazir M et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
Nouioua S et al.
Neuromuscular Disorders : Nmd, 2011
[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
Renouil M et al.
Revue Neurologique, 0
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