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The Expanding World of Myotonic Dystrophies: How Can They Be Detected?
Title The Expanding World of Myotonic Dystrophies: How Can They Be Detected? Author Radvánszky Ján 1982- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Co-authors Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Source document Genetic Testing and Molecular Biomarkers. Vol. 14 iss. 6 (210) p. 733-741 Language slo - Slovak Country SK - Slovak Republic Document kind rozpis článkov z periodík (rbx) Citations VAN BLITTERSWIJK, M. - DEJESUS-HERNANDEZ, M. - RADEMAKERS, R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders? In Current Opinion in Neurology, 2012, vol 25, no. 6, p. 689-700 COOPER-KNOCK, Johnathan - SHAW, Pamela J. - KIRBY, Janine. The widening spectrum of C9ORF72-related disease; Genotype/phenotype correlations and potential modifiers of clinical phenotype. In Acta Neuropathologica. ISSN 00016322, 2014-03-01, 127, 3, pp. 333-345. VAN BLITTERSWIJK, Marka - DEJESUS-HERNANDEZ, Mariely - NIEMANTSVERDRIET, Ellis - MURRAY, Melissa E. - HECKMAN, Michael G. - DIEHL, Nancy N. - BROWN, Patricia H. - BAKER, Matt C. - FINCH, NiCole A. - BAUER, Peter O. - SERRANO, Geidy E. - BEACH, Thomas Gerald - JOSEPHS, Keith A. - KNOPMAN, David S. - PETERSEN, Ronald C. - BOEVE, Bradley F. - GRAFF-RADFORD, Neill R. - BOYLAN, Kevin B. - PETRUCELLI, Leonard - DICKSON, Dennis W. - RADEMAKERS, Rosa. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): A cross-sectional cohort study. In The Lancet Neurology. ISSN 14744422, 2013-10-01, 12, 10, pp. 978-988. ORPANA, Arto K. - HO, Thohuu - ALAGRUND, Katariina - RIDANPÄÄ, Maaret - AITTOMÄKI, Kristiina A U - STENMAN, Jakob. Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1. In Journal of Molecular Diagnostics. ISSN 15251578, 2013-01-01, 15, 1, pp. 110-115. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2010 Registered in SCOPUS DOI 10.1089/gtmb.2010.0073 
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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) 210
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