Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domenech Salgado, Laura; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier; Ossowski, Stephan.

Hum Mutat ; 40(7): 865-878, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-31026367

2.

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hor, Hyun; Francescatto, Ludmila; Bartesaghi, Luca; Ortega-Cubero, Sara; Kousi, Maria; Lorenzo-Betancor, Oswaldo; Jiménez-Jiménez, Felix J; Gironell, Alexandre; Clarimón, Jordi; Drechsel, Oliver; Agúndez, José A G; Kenzelmann Broz, Daniela; Chiquet-Ehrismann, Ruth; Lleó, Alberto; Coria, Francisco; García-Martin, Elena; Alonso-Navarro, Hortensia; Martí, Maria J; Kulisevsky, Jaume; Hor, Charlotte N; Ossowski, Stephan; Chrast, Roman; Katsanis, Nicholas; Pastor, Pau; Estivill, Xavier.

Hum Mol Genet ; 24(20): 5677-86, 2015 Oct 15.

Artículo en Inglés | MEDLINE | ID: mdl-26188006

3.

A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.

Hor, Hyun; Bartesaghi, Luca; Kutalik, Zoltán; Vicário, José L; de Andrés, Clara; Pfister, Corinne; Lammers, Gert J; Guex, Nicolas; Chrast, Roman; Tafti, Mehdi; Peraita-Adrados, Rosa.

Am J Hum Genet ; 89(3): 474-9, 2011 Sep 09.

Artículo en Inglés | MEDLINE | ID: mdl-21907016

4.

Mutations in SEPT9 cause hereditary neuralgic amyotrophy.

Kuhlenbäumer, Gregor; Hannibal, Mark C; Nelis, Eva; Schirmacher, Anja; Verpoorten, Nathalie; Meuleman, Jan; Watts, Giles D J; De Vriendt, Els; Young, Peter; Stögbauer, Florian; Halfter, Hartmut; Irobi, Joy; Goossens, Dirk; Del-Favero, Jurgen; Betz, Benjamin G; Hor, Hyun; Kurlemann, Gert; Bird, Thomas D; Airaksinen, Eila; Mononen, Tarja; Serradell, Adolfo Pou; Prats, José M; Van Broeckhoven, Christine; De Jonghe, Peter; Timmerman, Vincent; Ringelstein, E Bernd; Chance, Phillip F.

Nat Genet ; 37(10): 1044-6, 2005 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-16186812

5.

Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.

Luca, Gianina; Haba-Rubio, José; Dauvilliers, Yves; Lammers, Gert-Jan; Overeem, Sebastiaan; Donjacour, Claire E; Mayer, Geert; Javidi, Sirous; Iranzo, Alex; Santamaria, Joan; Peraita-Adrados, Rosa; Hor, Hyun; Kutalik, Zoltan; Plazzi, Giuseppe; Poli, Francesca; Pizza, Fabio; Arnulf, Isabelle; Lecendreux, Michel; Bassetti, Claudio; Mathis, Johannes; Heinzer, Raphael; Jennum, Poul; Knudsen, Stine; Geisler, Peter; Wierzbicka, Aleksandra; Feketeova, Eva; Pfister, Corinne; Khatami, Ramin; Baumann, Christian; Tafti, Mehdi.

J Sleep Res ; 22(5): 482-95, 2013 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-23496005

6.

REM sleep behavior in Parkinson disease: Frequent, particularly with higher age.

Baumann-Vogel, Heide; Hor, Hyun; Poryazova, Rositsa; Valko, Philipp; Werth, Esther; Baumann, Christian R.

PLoS One ; 15(12): e0243454, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-33284860

7.

Rare variants in ß-Amyloid precursor protein (APP) and Parkinson's disease.

Schulte, Eva C; Fukumori, Akio; Mollenhauer, Brit; Hor, Hyun; Arzberger, Thomas; Perneczky, Robert; Kurz, Alexander; Diehl-Schmid, Janine; Hüll, Michael; Lichtner, Peter; Eckstein, Gertrud; Zimprich, Alexander; Haubenberger, Dietrich; Pirker, Walter; Brücke, Thomas; Bereznai, Benjamin; Molnar, Maria J; Lorenzo-Betancor, Oswaldo; Pastor, Pau; Peters, Annette; Gieger, Christian; Estivill, Xavier; Meitinger, Thomas; Kretzschmar, Hans A; Trenkwalder, Claudia; Haass, Christian; Winkelmann, Juliane.

Eur J Hum Genet ; 23(10): 1328-33, 2015 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-25604855

8.

DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe.

Tafti, Mehdi; Hor, Hyun; Dauvilliers, Yves; Lammers, Gert J; Overeem, Sebastiaan; Mayer, Geert; Javidi, Sirous; Iranzo, Alex; Santamaria, Joan; Peraita-Adrados, Rosa; Vicario, José L; Arnulf, Isabelle; Plazzi, Giuseppe; Bayard, Sophie; Poli, Francesca; Pizza, Fabio; Geisler, Peter; Wierzbicka, Aleksandra; Bassetti, Claudio L; Mathis, Johannes; Lecendreux, Michel; Donjacour, Claire E H M; van der Heide, Astrid; Heinzer, Raphaël; Haba-Rubio, José; Feketeova, Eva; Högl, Birgit; Frauscher, Birgit; Benetó, Antonio; Khatami, Ramin; Cañellas, Francesca; Pfister, Corinne; Scholz, Sabine; Billiard, Michel; Baumann, Christian R; Ercilla, Guadalupe; Verduijn, Willem; Claas, Frans H J; Dubois, Valérie; Nowak, Jacek; Eberhard, Hans-Peter; Pradervand, Sylvain; Hor, Charlotte N; Testi, Manuela; Tiercy, Jean-Marie; Kutalik, Zoltán.

Sleep ; 37(1): 19-25, 2014 Jan 01.

Artículo en Inglés | MEDLINE | ID: mdl-24381371

9.

Absent F-waves in conus medullaris stroke mimicking Guillain-Barré syndrome.

Hor, Hyun; Nader, Husain; Tarnutzer, Alexander Andrea.

BMJ Case Rep ; 11(1)2018 Nov 28.

Artículo en Inglés | MEDLINE | ID: mdl-30567145

10.

Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients.

Cvetkovic-Lopes, Vesna; Bayer, Laurence; Dorsaz, Stéphane; Maret, Stéphanie; Pradervand, Sylvain; Dauvilliers, Yves; Lecendreux, Michel; Lammers, Gert-Jan; Donjacour, Claire E H M; Du Pasquier, Renaud A; Pfister, Corinne; Petit, Brice; Hor, Hyun; Mühlethaler, Michel; Tafti, Mehdi.

J Clin Invest ; 120(3): 713-9, 2010 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-20160349

11.

Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.

Hor, Hyun; Kutalik, Zoltán; Dauvilliers, Yves; Valsesia, Armand; Lammers, Gert J; Donjacour, Claire E H M; Iranzo, Alex; Santamaria, Joan; Peraita Adrados, Rosa; Vicario, José L; Overeem, Sebastiaan; Arnulf, Isabelle; Theodorou, Ioannis; Jennum, Poul; Knudsen, Stine; Bassetti, Claudio; Mathis, Johannes; Lecendreux, Michel; Mayer, Geert; Geisler, Peter; Benetó, Antonio; Petit, Brice; Pfister, Corinne; Bürki, Julie Vienne; Didelot, Gérard; Billiard, Michel; Ercilla, Guadalupe; Verduijn, Willem; Claas, Frans H J; Vollenweider, Peter; Vollenwider, Peter; Waeber, Gerard; Waterworth, Dawn M; Mooser, Vincent; Heinzer, Raphaël; Beckmann, Jacques S; Bergmann, Sven; Tafti, Mehdi.

Nat Genet ; 42(9): 786-9, 2010 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-20711174

12.

Physiology. How much sleep do we need?

Hor, Hyun; Tafti, Mehdi.

Science ; 325(5942): 825-6, 2009 Aug 14.

Artículo en Inglés | MEDLINE | ID: mdl-19679803

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