Search Results - "Lucamp, Lucamp"

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90 by Almind, Gitte J, Ek, Jakob, Rosenberg, Thomas, Eiberg, Hans, Larsen, Michael, Lucamp, Lucamp, Brøndum-Nielsen, Karen, Grønskov, Karen

“…Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. Index patients from 93 unrelated ADOA families were assessed…”
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A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS by Tümer, Zeynep, Bertelsen, Birgitte, Gredal, Ole, Magyari, Melinda, Nielsen, Karen Cecilie, LuCamp, Grønskov, Karen, Brøndum-Nielsen, Karen

“…Abstract Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. About 10% of ALS cases are familial (FALS) and the genetic defect is…”
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Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting by Christiansen, Sofie Lindgren, Hertz, Christin Løth, Ferrero-Miliani, Laura, Dahl, Morten, Weeke, Peter Ejvin, LuCamp, Ottesen, Gyda Lolk, Frank-Hansen, Rune, Bundgaard, Henning, Morling, Niels

“…In forensic medicine, one-third of the sudden deaths remain unexplained after medico-legal autopsy. A major proportion of these sudden unexplained deaths (SUD)…”
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SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation by Savio-Galimberti, Eleonora, Weeke, Peter, Muhammad, Raafia, Blair, Marcia, Ansari, Sami, Short, Laura, Atack, Thomas C, Kor, Kaylen, Vanoye, Carlos G, Olesen, Morten Salling, LuCamp, Yang, Tao, George, Jr, Alfred L, Roden, Dan M, Darbar, Dawood

“…To test the hypothesis that vulnerability to atrial fibrillation (AF) is associated with rare coding sequence variation in the SCN10A gene, which encodes the…”
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Next-generation sequencing of 100 candidate genes in young victims of suspected sudden cardiac death with structural abnormalities of the heart by Hertz, C. L., Christiansen, S. L., Ferrero-Miliani, L., Dahl, M., Weeke, P. E., Ottesen, G. L., Frank-Hansen, R., Bundgaard, H., Morling, N.

“…Background In sudden, unexpected, non-traumatic death in young individuals, structural abnormalities of the heart are frequently identified at autopsy…”
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Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes by Andreasen, Laura, Ahlberg, Gustav, Tang, Chuyi, Andreasen, Charlotte, Hartmann, Jacob P, Tfelt-Hansen, Jacob, Behr, Elijah R, Pehrson, Steen, Haunsø, Stig, LuCamp, Weeke, Peter E, Jespersen, Thomas, Olesen, Morten S, Svendsen, Jesper H

“…Atrioventricular nodal reentry tachycardia (AVNRT) is the most common form of regular paroxysmal supraventricular tachycardia. This arrhythmia affects women…”
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Common and Rare Variants in SCN10A Modulate the Risk of Atrial Fibrillation by Jabbari, Javad, Olesen, Morten S, Yuan, Lei, Nielsen, Jonas B, Liang, Bo, Macri, Vincenzo, Christophersen, Ingrid E, Nielsen, Nikolaj, Sajadieh, Ahmad, Ellinor, Patrick T, Grunnet, Morten, Haunsø, Stig, Holst, Anders G, Svendsen, Jesper H, Jespersen, Thomas

“…BACKGROUND—Genome-wide association studies have shown that the common single nucleotide polymorphism rs6800541 located in SCN10A, encoding the voltage-gated…”
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Association study between CDH2 and Gilles de la Tourette syndrome in a Danish cohort by Nazaryan, Lusine, Bertelsen, Birgitte, Padmanabhuni, Shanmukha Sampath, Debes, Nanette Mol, LuCamp, Have, Christian Theil, Tümer, Zeynep

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