Búsqueda | Biblioteca Virtual en Salud

1.

My Journey to Open Science.

Rouleau, Guy.

Cell ; 181(3): 498-502, 2020 04 30.

Artículo en Inglés | MEDLINE | ID: mdl-32234523

2.

Evolution of immune genes is associated with the Black Death.

Klunk, Jennifer; Vilgalys, Tauras P; Demeure, Christian E; Cheng, Xiaoheng; Shiratori, Mari; Madej, Julien; Beau, Rémi; Elli, Derek; Patino, Maria I; Redfern, Rebecca; DeWitte, Sharon N; Gamble, Julia A; Boldsen, Jesper L; Carmichael, Ann; Varlik, Nükhet; Eaton, Katherine; Grenier, Jean-Christophe; Golding, G Brian; Devault, Alison; Rouillard, Jean-Marie; Yotova, Vania; Sindeaux, Renata; Ye, Chun Jimmie; Bikaran, Matin; Dumaine, Anne; Brinkworth, Jessica F; Missiakas, Dominique; Rouleau, Guy A; Steinrücken, Matthias; Pizarro-Cerdá, Javier; Poinar, Hendrik N; Barreiro, Luis B.

Nature ; 611(7935): 312-319, 2022 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-36261521

3.

Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids.

Tamaki, Yoshitaka; Ross, Jay P; Alipour, Paria; Castonguay, Charles-Étienne; Li, Boting; Catoire, Helene; Rochefort, Daniel; Urushitani, Makoto; Takahashi, Ryosuke; Sonnen, Joshua A; Stifani, Stefano; Dion, Patrick A; Rouleau, Guy A.

PLoS Genet ; 19(2): e1010606, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36745687

4.

Selective Enhancement of REM Sleep in Male Rats through Activation of MT₁ Receptors Located in the Locus Coeruleus Norepinephrine neurons.

López-Canul, Martha; He, Qianzi; Sasson, Tania; Ettaoussi, Mohamed; De Gregorio, Danilo; Ochoa-Sanchez, Rafael; Catoire, Helene; Posa, Luca; Rouleau, Guy; Beaulieu, Jean Martin; Comai, Stefano; Gobbi, Gabriella.

J Neurosci ; 2024 May 14.

Artículo en Inglés | MEDLINE | ID: mdl-38744530

5.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

Hijazi, Hadia; Reis, Linda M; Pehlivan, Davut; Bernstein, Jonathan A; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A; Gan-Or, Ziv; Rouleau, Guy A; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnès; Bonneau, Dominique; van Jaarsveld, R H; Lachmeijer, A M A; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Malgorzata; Kepczynski, Lukasz; Polatynska, Katarzyna; Li, Yidan; Fatih, Jawid M; Marafi, Dana; Rosenfeld, Jill A; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A; Hobson, Grace M; Hunter, Jill V; Carvalho, Claudia M B; Posey, Jennifer E; Semina, Elena V; Lupski, James R.

Am J Hum Genet ; 109(12): 2270-2282, 2022 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-36368327

6.

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.

Paul, Franziska; Ng, Calista; Mohamad Sahari, Umar Bin; Nafissi, Shahriar; Nilipoor, Yalda; Tavasoli, Ali Reza; Bonnard, Carine; Wong, Pui-Mun; Nabavizadeh, Nasrinsadat; Altunoglu, Umut; Estiar, Mehrdad A; Majoie, Charles B; Lee, Hane; Nelson, Stanley F; Gan-Or, Ziv; Rouleau, Guy A; Van Veldhoven, Paul P; Massie, Rami; Hennekam, Raoul C; Kariminejad, Ariana; Reversade, Bruno.

Hum Mol Genet ; 31(21): 3729-3740, 2022 10 28.

Artículo en Inglés | MEDLINE | ID: mdl-35652444

7.

Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome.

Ross, Jay P; Akçimen, Fulya; Liao, Calwing; Kwan, Karina; Phillips, Daniel E; Schmilovich, Zoe; Spiegelman, Dan; Genge, Angela; Dupré, Nicolas; Dion, Patrick A; Farhan, Sali M K; Rouleau, Guy A.

Genet Med ; 26(1): 100967, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37638500

8.

Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.

Collins Hutchinson, Meagan L; St-Onge, Judith; Schlienger, Sabrina; Boudrahem-Addour, Nassima; Mougharbel, Lina; Michaud, Jean-Francois; Lloyd, Clara; Bruneau, Elena; Roux, Cedric; Sahly, Ahmed N; Osterman, Bradley; Myers, Kenneth A; Rouleau, Guy A; Jimenez Cruz, Daniel Alexander; Rivière, Jean-Baptiste; Accogli, Andrea; Charron, Frederic; Srour, Myriam.

Mov Disord ; 39(2): 400-410, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-38314870

9.

Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.

Dilliott, Allison A; Kwon, Seulki; Rouleau, Guy A; Iqbal, Sumaiya; Farhan, Sali M K.

Brain ; 146(11): 4608-4621, 2023 11 02.

Artículo en Inglés | MEDLINE | ID: mdl-37394881

10.

Evolution of a Human-Specific Tandem Repeat Associated with ALS.

Course, Meredith M; Gudsnuk, Kathryn; Smukowski, Samuel N; Winston, Kosuke; Desai, Nitin; Ross, Jay P; Sulovari, Arvis; Bourassa, Cynthia V; Spiegelman, Dan; Couthouis, Julien; Yu, Chang-En; Tsuang, Debby W; Jayadev, Suman; Kay, Mark A; Gitler, Aaron D; Dupre, Nicolas; Eichler, Evan E; Dion, Patrick A; Rouleau, Guy A; Valdmanis, Paul N.

Am J Hum Genet ; 107(3): 445-460, 2020 09 03.

Artículo en Inglés | MEDLINE | ID: mdl-32750315

11.

Moyamoya Disease Susceptibility Gene RNF213 Regulates Endothelial Barrier Function.

Roy, Vincent; Ross, Jay P; Pépin, Rémy; Cortez Ghio, Sergio; Brodeur, Alyssa; Touzel Deschênes, Lydia; Le-Bel, Gaëtan; Phillips, Daniel E; Milot, Geneviève; Dion, Patrick A; Guérin, Sylvain; Germain, Lucie; Berthod, François; Auger, François A; Rouleau, Guy A; Dupré, Nicolas; Gros-Louis, François.

Stroke ; 53(4): 1263-1275, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-34991336

12.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C; McConkie-Rosell, Allyn; McDonald, Marie; Freedman, Sharon F; Rivière, Jean-Baptiste; Lafond-Lapalme, Joël; Simpson, Brittany N; Hopkin, Robert J; Trimouille, Aurélien; Van-Gils, Julien; Begtrup, Amber; McWalter, Kirsty; Delphine, Heron; Keren, Boris; Genevieve, David; Argilli, Emanuela; Sherr, Elliott H; Severino, Mariasavina; Rouleau, Guy A; Yam, Patricia T; Charron, Frédéric; Srour, Myriam.

Am J Hum Genet ; 105(4): 854-868, 2019 10 03.

Artículo en Inglés | MEDLINE | ID: mdl-31585109

13.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard, Mohammad Ali; Rebelo, Adriana P; Buglo, Elena; Nemati, Hamid; Dastsooz, Hassan; Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Quintáns, Beatriz; Ordóñez-Ugalde, Andrés; Cortese, Andrea; Courel, Steve; Abreu, Lisa; Powell, Eric; Danzi, Matt C; Martuscelli, Nicole B; Bis-Brewer, Dana M; Tao, Feifei; Zarei, Fariba; Habibzadeh, Parham; Yavarian, Majid; Modarresi, Farzaneh; Silawi, Mohammad; Tabatabaei, Zahra; Yousefi, Masoume; Farpour, Hamid Reza; Kessler, Christoph; Mangold, Elisabeth; Kobeleva, Xenia; Tournev, Ivailo; Chamova, Teodora; Mueller, Amelie J; Haack, Tobias B; Tarnopolsky, Mark; Gan-Or, Ziv; Rouleau, Guy A; Synofzik, Matthis; Sobrido, María-Jesús; Jordanova, Albena; Schüle, Rebecca; Zuchner, Stephan; Faghihi, Mohammad Ali.

Am J Hum Genet ; 104(4): 767-773, 2019 04 04.

Artículo en Inglés | MEDLINE | ID: mdl-30929741

14.

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.

Gelfman, Sahar; Dugger, Sarah; de Araujo Martins Moreno, Cristiane; Ren, Zhong; Wolock, Charles J; Shneider, Neil A; Phatnani, Hemali; Cirulli, Elizabeth T; Lasseigne, Brittany N; Harris, Tim; Maniatis, Tom; Rouleau, Guy A; Brown, Robert H; Gitler, Aaron D; Myers, Richard M; Petrovski, Slavé; Allen, Andrew; Goldstein, David B; Harms, Matthew B.

Genome Res ; 29(5): 809-818, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30940688

15.

Investigation of the causal relationship between ALS and autoimmune disorders: a Mendelian randomization study.

Alipour, Paria; Senkevich, Konstantin; Ross, Jay P; Spiegelman, Dan; Manousaki, Despoina; Dion, Patrick A; Rouleau, Guy A.

BMC Med ; 20(1): 382, 2022 11 02.

Artículo en Inglés | MEDLINE | ID: mdl-36320012

16.

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.

Rebelo, Adriana P; Ruiz, Ariel; Dohrn, Maike F; Wayand, Melanie; Farooq, Amjad; Danzi, Matt C; Beijer, Danique; Aaron, Brooke; Vandrovcova, Jana; Houlden, Henry; Matalonga, Leslie; Abreu, Lisa; Rouleau, Guy; Estiar, Mehrdad A; Van de Vondel, Liedewei; Gan-Or, Ziv; Baets, Jonathan; Schüle, Rebecca; Zuchner, Stephan.

Genet Med ; 24(12): 2487-2500, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36136088

17.

Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.

da Graça, Felipe Franco; Peluzzo, Thiago M; Bonadia, Luciana Cardoso; Martinez, Alberto Rolim Muro; Diniz de Lima, Fabricio; Pedroso, José Luiz; Barsottini, Orlando G P; Gama, Maria Thereza Drummond; Akçimen, Fulya; Dion, Patrick A; Rouleau, Guy A; Marques, Wilson; França, Marcondes Cavalcante.

Cerebellum ; 21(1): 49-54, 2022 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-33956305

18.

Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screening.

Fibke, Chad; Giroux, Sylvie; Caron, André; Starks, Elizabeth; Parker, Jeremy D K; Swanson, Lucas; Jouan, Loubna; Langlois, Sylvie; Rouleau, Guy; Rousseau, François; Karsan, Aly.

Clin Chem Lab Med ; 60(2): 183-190, 2022 01 27.

Artículo en Inglés | MEDLINE | ID: mdl-34761647

19.

Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.

Rudakou, Uladzislau; Yu, Eric; Krohn, Lynne; Ruskey, Jennifer A; Asayesh, Farnaz; Dauvilliers, Yves; Spiegelman, Dan; Greenbaum, Lior; Fahn, Stanley; Waters, Cheryl H; Dupré, Nicolas; Rouleau, Guy A; Hassin-Baer, Sharon; Fon, Edward A; Alcalay, Roy N; Gan-Or, Ziv.

Brain ; 144(2): 462-472, 2021 03 03.

Artículo en Inglés | MEDLINE | ID: mdl-33349842

20.

Investigating the phenotypic and genetic associations between personality traits and suicidal behavior across major mental health diagnoses.

Kalman, Janos L; Yoshida, Tomoya; Andlauer, Till F M; Schulte, Eva C; Adorjan, Kristina; Alda, Martin; Ardau, Raffaela; Aubry, Jean-Michel; Brosch, Katharina; Budde, Monika; Chillotti, Caterina; Czerski, Piotr M; DePaulo, Raymond J; Forstner, Andreas; Goes, Fernando S; Grigoroiu-Serbanescu, Maria; Grof, Paul; Grotegerd, Dominik; Hahn, Tim; Heilbronner, Maria; Hasler, Roland; Heilbronner, Urs; Heilmann-Heimbach, Stefanie; Kapelski, Pawel; Kato, Tadafumi; Kohshour, Mojtaba Oraki; Meinert, Susanne; Meller, Tina; Nenadic, Igor; Nöthen, Markus M; Novak, Tomas; Opel, Nils; Pawlak, Joanna; Pfarr, Julia-Katharina; Potash, James B; Reich-Erkelenz, Daniela; Repple, Jonathan; Richard-Lepouriel, Hélène; Rietschel, Marcella; Ringwald, Kai G; Rouleau, Guy; Schaupp, Sabrina; Senner, Fanny; Severino, Giovanni; Squassina, Alessio; Stein, Frederike; Stopkova, Pavla; Streit, Fabian; Thiel, Katharina; Thomas-Odenthal, Florian.

Eur Arch Psychiatry Clin Neurosci ; 272(8): 1611-1620, 2022 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-35146571

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