Yousef VatanParast

The genetic architecture and pharmacogenetic landscape of Charcot-Marie-tooth disease type 1 A: a narrative review toward precision molecular therapeutics

Abstract Charcot–Marie–Tooth disease (CMT) is the most common group of inherited peripheral neuropathies, and CMT1A is its most prevalent demyelinating subtype. It is most often caused by a recurrent ~ 1.4–1.5 Mb tandem duplication on chromosome 17p12 encompassing the PMP22 gene,...

Primary gastric alveolar soft part sarcoma with novel complex chromosomal rearrangements: a case report of endoscopic resection and precision diagnostics

Alveolar soft part sarcoma (ASPS) is a rare malignant neoplasm comprising less than 1% of all soft tissue sarcomas, typically affecting adolescents and young adults with a predilection for extremities. Primary gastrointestinal involvement is exceedingly rare, with only a handful...