Balkan Journal of Medical Genetics

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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
Thuan Duc Lao, Phuong Kim Truong, Thiều Hồng Huệ, DH Nguyen, MT Nguyen, Thuy Ai Huyen Le
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... hiện toàn bộ
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
E. Vargiami, E Papathanasiou, Spyros Batzios, Maria Kyriazi, Evangelia Dimitriou, Athanasia Anastasiou, Helen Michelakakis, Anne‐Katrin Giese, Dimitrios I. Zafeiriou
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 infan...... hiện toàn bộ
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
Zoran Sterjev, Gordana Kiteva, Emilija Cvetkovska, I. Petrov, Igor Kuzmanovski, Teodora Ribarska, KA Nestorovska, Nadica Matevska, S Trajkovik-Jolevska, Aleksandar Dimovski, Ljubica Šuturkova
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...... hiện toàn bộ
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