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DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene
Názov DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene Autor Kolníková Miriam Spoluautori Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Ilenčíková Denisa Foltan Tomáš Payerová Jaroslava Daniš Daniel 1989 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Klimeš Iwar SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Staník Juraj SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Zdroj.dok. Seizure - European Journal of Epilepsy. Vol. 56 (2018), p. 31-33 Jazyk dok. eng - angličtina Druh dok. rozpis článkov z periodík (rbx) Ohlasy ALSAHLI, Saud - AL-TWAIJRI, Waleed - AL MUTAIRI, Fuad. Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy. In Epilepsia Open, 2018-12-01, 3, 4, pp. 524-527. LI, Hua - FANG, Fang - XU, Manting - LIU, Zhimei - ZHOU, Ji - WANG, Xiaohui - WANG, Xiaofei - HAN, Tongli. Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation. In FRONTIERS IN PHARMACOLOGY. ISSN 1663-9812, 2019, vol. 10, no., pp. BIDKHORI, Mohammad - YOUSEFI, Mahmood - ROHANI, Hosein - EBRAHIMI, Hosein - MOHAMMADI, Ali Akbar. The influence of the use of improved sanitation facilities and improved drinking-water sources on the diarrhea-associated deaths in children under 5 years. In HUMAN AND ECOLOGICAL RISK ASSESSMENT. ISSN 1080-7039, 2019, vol. 25, no. 5, pp. 1234-1241. DIETZ, Jonathan V. - BOHOVYCH, Iryna - VIANA, Martonio Ponte - KHALIMONCHUK, Oleh. Proteolytic regulation of mitochondrial dynamics. In MITOCHONDRION. ISSN 1567-7249, 2019, vol. 49, no., pp. 289-304. AIMIUWU, Osasumwen - FOWLER, Allison M. - SAH, Megha - TEOH, Jia Jie - KANBER, Ayla - PYNE, Nettie K. - PETRI, Sabrina - ROSENTHAL-WEISS, Chana - YANG, Mu - HARPER, Scott Q. - FRANKEL, Wayne N. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. In MOLECULAR THERAPY. ISSN 1525-0016, 2020, vol. 28, no. 7, pp. 1706-1716. SAHLY, Ahmed N. - KROCHMALNEK, Eric - ST-ONGE, Judith - SROUR, Myriam - MYERS, Kenneth A. Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant. In HUMAN GENETICS. ISSN 0340-6717, 2020, vol. 139, no. 12, pp. 1575-1578. BONNYCASTLE, Katherine - DAVENPORT, Elizabeth C. - COUSIN, Michael A. Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle. In JOURNAL OF NEUROCHEMISTRY. ISSN 0022-3042, 2020, vol., no., pp. SAHLY, A.N. - KROCHMALNEK, E. - ST-ONGE, J. - SROUR, M. - MYERS, K.A. Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant. In HUMAN GENETICS. ISSN 0340-6717, DEC 2020, vol. 139, no. 12, p. 1575-1578. AIMIUWU, O.V. - FOWLER, A.M. - SAH, M. - TEOH, J.J. - KANBER, A. - PYNE, N.K. - PETRI, S. - ROSENTHAL-WEISS, C. - YANG, M. - HARPER, S.Q. - FRANKEL, W.N. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. In MOLECULAR THERAPY. ISSN 1525-0016, JUL 8 2020, vol. 28, no. 7, p. 1706-1716. BONNYCASTLE, K. - DAVENPORT, E.C. - COUSIN, M.A. Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle. In JOURNAL OF NEUROCHEMISTRY. ISSN 0022-3042, APR 2021, vol. 157, no. 2, SI, p. 179-207. RASTEGARPANAH, M. - AZADMANESH, K. - NEGAHDARI, B. - ASGARI, Y. - MAZLOOMI, M. Screening of candidate genes associated with high titer production of oncolytic measles virus based on systems biology approach. In VIRUS GENES. ISSN 0920-8569, AUG 2022, vol. 58, no. 4, p. 270-283. Dostupné na: https://doi.org/10.1007/s11262-022-01902-y. SPOTO, G. - VALENTINI, G. - SAIA, M.C. - BUTERA, A. - AMORE, G. - SALPIETRO, V. - NICOTERA, A.G. - DI ROSA, G. Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction. In FRONTIERS IN NEUROLOGY. ISSN 1664-2295, MAR 8 2022, vol. 13. Dostupné na: https://doi.org/10.3389/fneur.2022.826211. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2018 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1016/j.seizure.2018.01.020 
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Názov súboru Prístup Veľkosť Stiahnuté Typ Licence DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.pdf Neprístupný/archív 1.2 MB 5 Vydavateľská verzia rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2018 2017 2.839 Q2 1.016 Q1
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