Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Disease and NAV1[original query] |
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| Contribution of genetic variants to pain susceptibility in Parkinson disease. European journal of pain (London, England) 2012 Oct 16 (9): 1243-50. Greenbaum L, Tegeder I, Barhum Y, Melamed E, Roditi Y, Djaldetti |
| Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease. Basic research in cardiology 2013 Nov 108 (6): 387. Fedele Francesco, Mancone Massimo, Chilian William M, Severino Paolo, Canali Emanuele, Logan Suzanna, De Marchis Maria Laura, Volterrani Maurizio, Palmirotta Raffaele, Guadagni Fiorel |
| [Association between mutations of SCN9A gene and pain related to Parkinsonism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 Feb 30 (1): 17-20. Zhang Li-mei, Chen Yong-qian, Li Wan-jun, Sun Wei, Huang Yue, Zou Hai-qia |
| Contribution of Cardiac Sodium Channel ß-Subunit Variants to Brugada Syndrome. Circulation journal : official journal of the Japanese Circulation Society 2015 Jul . Peeters Uschi, Scornik Fabiana, Riuró Helena, Pérez Guillermo, Komurcu-Bayrak Evrim, Van Malderen Sophie, Pappaert Gudrun, Tarradas Anna, Pagans Sara, Daneels Dorien, Breckpot Karine, Brugada Pedro, Bonduelle Maryse, Brugada Ramon, Van Dooren Son |
| SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. European journal of human genetics : EJHG 2015 Jun . Bissay Véronique, Van Malderen Sophie C H, Keymolen Kathelijn, Lissens Willy, Peeters Uschi, Daneels Dorien, Jansen Anna C, Pappaert Gudrun, Brugada Pedro, De Keyser Jacques, Van Dooren Son |
| Common and rare variants in SCN10A modulate the risk of atrial fibrillation. Circulation. Cardiovascular genetics 2015 Feb 8 (1): 64-73. 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 Thom |
| Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression. Oncotarget 2016 Mar . Lasorsa Vito Alessandro, Formicola Daniela, Pignataro Piero, Cimmino Flora, Calabrese Francesco Maria, Mora Jaume, Esposito Maria Rosaria, Pantile Marcella, Zanon Carlo, De Mariano Marilena, Longo Luca, Hogarty Michael D, de Torres Carmen, Tonini Gian Paolo, Iolascon Achille, Capasso Mar |
| Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PloS one 2016 11 (3): e0150426. Lal Dennis, Reinthaler Eva M, Dejanovic Borislav, May Patrick, Thiele Holger, Lehesjoki Anna-Elina, Schwarz Günter, Riesch Erik, Ikram M Arfan, Duijn Cornelia M van, Uitterlinden Andre G, Hofman Albert, Steinböck Hannelore, Gruber-Sedlmayr Ursula, Neophytou Birgit, Zara Federico, Hahn Andreas, , , Gormley Padhraig, Becker Felicitas, Weber Yvonne G, Cilio Maria Roberta, Kunz Wolfram S, Krause Roland, Zimprich Fritz, Lemke Johannes R, Nürnberg Peter, Sander Thomas, Lerche Holger, Neubauer Bernd |
| Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia. Scandinavian journal of pain 2018 6 5 (4): 217-225. Zhang Zhiping, Schmelz Martin, Segerdahl Märta, Quiding Hans, Centerholt Carina, Juréus Anna, Carr Thomas Hedley, Whiteley Jessica, Salter Hugh, Kvernebo Mari Skylstad, Ørstavik Kristin, Helås Tormod, Kleggetveit Inge-Petter, Lunden Lars Kristian, Jørum Ell |
| Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. Lancet (London, England) 2018 4 391 (10129): 1483-1492. Männikkö Roope, Wong Leonie, Tester David J, Thor Michael G, Sud Richa, Kullmann Dimitri M, Sweeney Mary G, Leu Costin, Sisodiya Sanjay M, FitzPatrick David R, Evans Margaret J, Jeffrey Iona J M, Tfelt-Hansen Jacob, Cohen Marta C, Fleming Peter J, Jaye Amie, Simpson Michael A, Ackerman Michael J, Hanna Michael G, Behr Elijah R, Matthews Em |
| No Association of Polymorphisms in Nav1.7 or Nerve Growth Factor Receptor Genes with Trigeminal Neuralgia. Pain medicine (Malden, Mass.) 2018 Oct . Costa Grazielle Mara Ferreira, Rocha Luiz Paulo C, Siqueira Silvia Regina Dowgan Tesseroli de, Moreira Paula Rocha, Almeida-Leite Camila Mega |
| Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes. Molecular genetics & genomic medicine 2019 5 7 (7): e00727. de Lange Iris M, Weuring Wout, van 't Slot Ruben, Gunning Boudewijn, Sonsma Anja C M, McCormack Mark, de Kovel Carolien, van Gemert Lisette J J M, Mulder Flip, van Kempen Marjan J A, Knoers Nine V A M, Brilstra Eva H, Koeleman Bobby P |
| Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy. PloS one 2020 8 15 (8): e0238121. Encinas Alejandra C, Watkins Joseph C, Longoria Iris Arenas, Johnson J P, Hammer Michael |
Genetic Association Analyses Highlight IL6, ALPL, and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis.
Circulation. Genomic and precision medicine 2019 10 12 (10): e002617. Thériault Sébastien, Dina Christian, Messika-Zeitoun David, Le Scouarnec Solena, Capoulade Romain, Gaudreault Nathalie, Rigade Sidwell, Li Zhonglin, Simonet Floriane, Lamontagne Maxime, Clavel Marie-Annick, Arsenault Benoit J, Boureau Anne-Sophie, Lecointe Simon, Baron Estelle, Bonnaud Stéphanie, Karakachoff Matilde, Charpentier Eric, Fellah Imen, Roussel Jean-Christian, Philippe Verhoye Jean, Baufreton Christophe, Probst Vincent, Roussel Ronan, , Redon Richard, Dagenais François, Pibarot Philippe, Mathieu Patrick, Le Tourneau Thierry, Bossé Yohan, Schott Jean-Jacqu |
| Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome. Frontiers in pharmacology 2022 9 13 984299. Zaklyazminskaya Elena, Shestak Anna, Podolyak Dmitry, Komoliatova Vera, Makarov Leonid, Novitskaya Anna, Revishvili Amir |
| Impact of SCN10A Polymorphism on Abdominal Pain Perception and Visceral Hypoalgesia in Crohn's Disease and Ulcerative Colitis. Clinical and translational gastroenterology 2024 10 . Matthew D Coates, Vonn Walter, August Stuart, Jeffrey Small, Shannon Dalessio, Nurgul Carkaci-Salli, Ann Ouyang, Kofi Clarke, Andrew Tinsley, Emmanuelle D Williams, Piotr Janicki, Victor Ruiz-Velasco, Kent E Vra |
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