Balkan Journal of Medical Genetics
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Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports
Balkan Journal of Medical Genetics - Tập 19 Số 1 - Trang 85-90 - 2016
Abstract Krabbe disease is an autosomal recessive neurodegenerative disorder due
to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending
on the age of onset, the disease is classified into infantile and later-onset
forms. We report neuroradiological, neurophysiological and molecular findings in
two Greek patients with the infantile form of Krabbe disease. The index patients
...
Simultaneously both expression of LMP-1 and methylation of E-cadherin: Molecular biomarker in stage IV of nasopharyngeal carcinoma patients
Balkan Journal of Medical Genetics - Tập 24 Số 1 - Trang 57-66 - 2021
Abstract The phenome of E-cadherin gene methylation and the expression of latent
membrane protein 1 (LMP-1) gene are associated with nasopharyngeal carcinoma
(NPC). In order to determine whether cooperative LMP-1 expression or methylation
of E-cadherin could serve as the potential molecule biomarker target for
diagnosis and therapy of NPC, a case-control study including 93 NPC biopsy
samples and 1...
Influence of the SCN1A IVS5N + 5 G>A Polymorphism on Therapy with Carbamazepine for Epilepsy
Balkan Journal of Medical Genetics - Tập 15 Số 1 - Trang 19-24 - 2012
Influence of the SCN1A IVS5N + 5 G>A Polymorphism on Therapy with Carbamazepine
for EpilepsyCarbamazepine (CBZ) blocks neuronal sodium channels in a voltage-
and frequency-dependent manner, delaying the recovery of the channels from the
inactivated state, reducing the number of action potentials within a burst, and
decreasing burst duration. The α-subunit of the first neuronal sodium channel
(SCN1...
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