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1.

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

Jones, Simon A; Valayannopoulos, Vassili; Schneider, Eugene; Eckert, Stephen; Banikazemi, Maryam; Bialer, Martin; Cederbaum, Stephen; Chan, Alicia; Dhawan, Anil; Di Rocco, Maja; Domm, Jennifer; Enns, Gregory M; Finegold, David; Gargus, J Jay; Guardamagna, Ornella; Hendriksz, Christian; Mahmoud, Iman G; Raiman, Julian; Selim, Laila A; Whitley, Chester B; Zaki, Osama; Quinn, Anthony G.

Genet Med; 18(5): 452-8, 2016 05.

Artículo en Inglés | MEDLINE | ID: mdl-26312827

2.

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina.

Nat Genet; 54(9): 1320-1331, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35982160

3.

Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses.

Liang, Bin; Moussaif, Mustapha; Kuan, Chih-Jen; Gargus, J Jay; Sze, Ji Ying.

Cell Metab; 4(6): 429-40, 2006 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-17141627

4.

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease.

Bonesteele, Grant; Gargus, J Jay; Curtin, Emily; Tang, Mabel; Rosenbloom, Barry; Kimonis, Virginia.

Mol Genet Metab Rep; 25: 100663, 2020 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-33101982

5.

Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.

Gargus, J Jay; Tournay, Anne.

Pediatr Neurol; 37(6): 407-10, 2007 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-18021921

6.

High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder.

Schmunk, Galina; Nguyen, Rachel L; Ferguson, David L; Kumar, Kenny; Parker, Ian; Gargus, J Jay.

Sci Rep; 7: 40740, 2017 02 01.

Artículo en Inglés | MEDLINE | ID: mdl-28145469

7.

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

Jones, Simon A; Rojas-Caro, Sandra; Quinn, Anthony G; Friedman, Mark; Marulkar, Sachin; Ezgu, Fatih; Zaki, Osama; Gargus, J Jay; Hughes, Joanne; Plantaz, Dominique; Vara, Roshni; Eckert, Stephen; Arnoux, Jean-Baptiste; Brassier, Anais; Le Quan Sang, Kim-Hanh; Valayannopoulos, Vassili.

Orphanet J Rare Dis; 12(1): 25, 2017 02 08.

Artículo en Inglés | MEDLINE | ID: mdl-28179030

8.

Ion channel functional candidate genes in multigenic neuropsychiatric disease.

Gargus, J Jay.

Biol Psychiatry; 60(2): 177-85, 2006 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-16497276

9.

Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development.

Chen, Xiaoning; Ye, Ran; Gargus, J Jay; Blakely, Randy D; Dobrenis, Kostantin; Sze, Ji Ying.

Cell Rep; 10(3): 346-358, 2015 Jan 20.

Artículo en Inglés | MEDLINE | ID: mdl-25600870

10.

Relative carnitine deficiency in autism.

Filipek, Pauline A; Juranek, Jenifer; Nguyen, Minh T; Cummings, Christa; Gargus, J Jay.

J Autism Dev Disord; 34(6): 615-23, 2004 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-15679182

11.

Why migraines strike.

Dodick, David W; Gargus, J Jay.

Sci Am; 299(2): 56-63, 2008 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-18666680

12.

Channelopathy pathogenesis in autism spectrum disorders.

Schmunk, Galina; Gargus, J Jay.

Front Genet; 4: 222, 2013 Nov 05.

Artículo en Inglés | MEDLINE | ID: mdl-24204377

13.

[ATP1A2: a key player in familial hemiplegic migraine]. / ATP1A2: un facteur essentiel dans la migraine hémiplégique familiale.

Blostein, Rhoda; Segall, Laura; Gargus, J Jay.

Med Sci (Paris); 22(4): 341-3, 2006 Apr.

Artículo en Francés | MEDLINE | ID: mdl-16597394

14.

Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism.

Gargus, J Jay.

Ann N Y Acad Sci; 1151: 133-56, 2009 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-19154521

15.

Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.

Segall, Laura; Mezzetti, Alessandra; Scanzano, Rosemarie; Gargus, J Jay; Purisima, Enrico; Blostein, Rhoda.

Proc Natl Acad Sci U S A; 102(31): 11106-11, 2005 Aug 02.

Artículo en Inglés | MEDLINE | ID: mdl-16037212

16.

Unraveling monogenic channelopathies and their implications for complex polygenic disease.

Gargus, J Jay.

Am J Hum Genet; 72(4): 785-803, 2003 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-12629596

17.

Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.

Sun, Guifeng; Gargus, J Jay; Ta, Dennis T; Vickery, Larry E.

J Hum Genet; 48(8): 415-419, 2003.

Artículo en Inglés | MEDLINE | ID: mdl-12938016

18.

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.

Nyhan, William L; Gargus, J Jay; Boyle, Karen; Selby, Rick; Koch, Richard.

Eur J Pediatr; 161(7): 377-9, 2002 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-12111189

19.

Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2.

Segall, Laura; Scanzano, Rosemarie; Kaunisto, Mari A; Wessman, Maija; Palotie, Aarno; Gargus, J Jay; Blostein, Rhoda.

J Biol Chem; 279(42): 43692-6, 2004 Oct 15.

Artículo en Inglés | MEDLINE | ID: mdl-15308625

20.

SK3-1C, a dominant-negative suppressor of SKCa and IKCa channels.

Kolski-Andreaco, Aaron; Tomita, Hiroaki; Shakkottai, Vikram G; Gutman, George A; Cahalan, Michael D; Gargus, J Jay; Chandy, K George.

J Biol Chem; 279(8): 6893-904, 2004 Feb 20.

Artículo en Inglés | MEDLINE | ID: mdl-14638680

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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses.

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease.

Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.

High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder.

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

Ion channel functional candidate genes in multigenic neuropsychiatric disease.

Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development.

Relative carnitine deficiency in autism.

Why migraines strike.

Channelopathy pathogenesis in autism spectrum disorders.

[ATP1A2: a key player in familial hemiplegic migraine]. / ATP1A2: un facteur essentiel dans la migraine hémiplégique familiale.

Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism.

Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.

Unraveling monogenic channelopathies and their implications for complex polygenic disease.

Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.

Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2.

SK3-1C, a dominant-negative suppressor of SKCa and IKCa channels.