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Article
Open AccessEnergy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation
Charcot-Marie-Tooth (CMT) is a group of inherited diseases clinically and genetically heterogenous, characterised by length dependent degeneration of axons of the peripheral nervous system. A missense mutation...
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Article
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2
The objective of the study was to investigate the disease-causing mutation in an autosomal dominant Charcot-Marie-Tooth disease type 2 family and examine the clinical and histopathological evaluation. We enrol...
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Chapter and Conference Paper
Dosimetric Analysis of the Partial Breast Irradiation Technique Depending Upon Various Tumor Locations; Three Dimensional Conformal Radiation Therapy, Electron Beam Therapy, Helical Tomotherapy
Partial Breast Irradiation (PBI) technique involves radiation beam delivery techniques that use a limited range of treatment volumes and is treatment approach as an alternative to whole breast irradiation tech...
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Article
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot–Marie–Tooth disease family
During mutational analysis of Charcot–Marie–Tooth (CMT) causative genes, we identified a CMT family with two missense mutations in different genes. A R359W mutation in EGR2 was shared by the affected daughter (pr...
