Associated Papers
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
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Kancheva D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Zimoń M et al.
Neurogenetics, 2015
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer C et al.
Journal of Neurology, 2012
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Auer-Grumbach M et al.
Neuropediatrics, 2008
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