Որոնման արդյունքները - J. Jay Gargus

  • Ցուցադրվում են 1 - 19 արդյունքները 19
Հստակեցնել արդյունքները
  1. 1
    Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3

    Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3 ‌ J. Jay Gargus, Anne Tournay

    Հրապարակվել է 2007
    Ստացեք ամբողջական տեքստը
    Artigo
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  2. 2
    Channelopathy pathogenesis in autism spectrum disorders

    Channelopathy pathogenesis in autism spectrum disorders ‌ Galina Schmunk, J. Jay Gargus

    Հրապարակվել է 2013
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Revisão
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  3. 3
    Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses

    Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses ‌ Bin Liang, Mustapha Moussaif, Chih-Jen Kuan, J. Jay Gargus, Ji Ying Sze

    Հրապարակվել է 2006
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  4. 4
    Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways

    Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways ‌ Rachel Nguyen, Yuliya V. Medvedeva, Tejasvi E Ayyagari, Galina Schmunk, J. Jay Gargus

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը
    Revisão
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  5. 5
    Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development

    Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development ‌ Xiaoning Chen, Ran Ye, J. Jay Gargus, Randy Blakely, Kostantin Dobrenis, Ji Ying Sze

    Հրապարակվել է 2015
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  6. 6
    Alterations in the α2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2

    Alterations in the α2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2 ‌ Laura Segall, Alessandra Mezzetti, Rosemarie Scanzano, J. Jay Gargus, Enrico O. Purisima, Rhoda Blostein

    Հրապարակվել է 2005
    Ստացեք ամբողջական տեքստը
    Artigo
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  7. 7
    Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport.

    Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport. ‌ Jeff M. Sands, J. Jay Gargus, Otto Fröhlich, Robert B. Gunn, Juha P. Kokko

    Հրապարակվել է 1992
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    Artigo
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  8. 8
    Design and Characterization of a Highly Selective Peptide Inhibitor of the Small Conductance Calcium-activated K+Channel, SkCa2

    Design and Characterization of a Highly Selective Peptide Inhibitor of the Small Conductance Calcium-activated K+Channel, SkCa2 ‌ Vikram G. Shakkottai, Imed Regaya, Heike Wulff, Ziad Fajloun, Hiroaki Tomita, Mohamed Fathallah, Michael D. Cahalan, J. Jay Gargus, Jean‐Marc Sabatier, K. George Chandy

    Հրապարակվել է 2001
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  9. 9
    Mitochondrial and ion channel gene alterations in autism

    Mitochondrial and ion channel gene alterations in autism ‌ Moyra Smith, Pamela Flodman, J. Jay Gargus, Mariella Simon, Kimberley Verrell, Richard Haas, Gail Reiner, Robert K. Naviaux, K. Osann, M. Anne Spence, Douglas C. Wallace

    Հրապարակվել է 2012
    Ստացեք ամբողջական տեքստը
    Artigo
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  10. 10
    Mitochondrial dysfunction in autistic patients with 15q inverted duplication

    Mitochondrial dysfunction in autistic patients with 15q inverted duplication ‌ Pauline A. Filipek, Jenifer Juranek, Moyra Smith, Lee Z. Mays, Erica R. Ramos, Maureen Bocian, Diane Masser‐Frye, Tracy M. Laulhere, Charlotte Modahl, M. Anne Spence, J. Jay Gargus

    Հրապարակվել է 2003
    Ստացեք ամբողջական տեքստը
    Artigo
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  11. 11
    Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

    Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study ‌ Simon Jones, Sandra Rojas-Caro, Anthony G. Quinn, Mark Friedman, Sachin Marulkar, Fatih Süheyl Ezgü, Osama K. Zaki, J. Jay Gargus, Joanne Hughes, Dominique Plantaz, Roshni Vara, Stephen Eckert, Jean-Baptiste Arnoux, Anaïs Brassier, Kim‐Hanh Le Quan Sang, Vassili Valayannopoulos

    Հրապարակվել է 2017
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  12. 12
    The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death

    The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death ‌ Andreas Brodehl, Mareike Dieding, Bärbel Klauke, Eric Dec, Shrestha Madaan, Taosheng Huang, J. Jay Gargus, Azra Fatima, Tomo Šarić, Hamdin Cakar, Volker Walhorn, Katja Tönsing, Tim Skrzipczyk, Ramona Cebulla, Désirée Gerdes, Uwe Schulz, Jan Gummert, Jesper Hastrup Svendsen, Morten S. Olesen, Dario Anselmetti, Alex Hørby Christensen, Virginia Kimonis, Hendrik Milting

    Հրապարակվել է 2013
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    Artigo
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  13. 13
    Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

    Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants ‌ Simon Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Martin G. Bialer, Stephen Cederbaum, Alicia Chan, Anil Dhawan, Maja Di Rocco, Jennifer Domm, Gregory M. Enns, David N. Finegold, J. Jay Gargus, Ornella Guardamagna, Christian J. Hendriksz, Iman G. Mahmoud, Julian Raiman, Laila Selim, Chester B. Whitley, Osama K. Zaki, Anthony G. Quinn

    Հրապարակվել է 2015
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  14. 14
    Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

    Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome ‌ Mariella Simon, Élodie M. Richard, Xinjian Wang, Mohsin Shahzad, Vincent Huang, Tanveer A. Qaiser, Prasanth Potluri, Sarah E. Mahl, Antonio Dávila, Sabiha Nazli, Saege Hancock, Margret Yu, J. Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G. Newman, José E. Abdenur, Arnold Starr, Rashmi S. Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N. Khan, Ronghua Li, Min‐Xin Guan, Thomas B. Friedman, Doris K. Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C. Wallace, Zubair M. Ahmed, Taosheng Huang, Saima Riazuddin

    Հրապարակվել է 2015
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  15. 15
    Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

    Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism ‌ Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Lambertus Klei, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Alfredo Brusco, Brian Hon‐Yin Chung, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina Girard, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Evelise Riberi, Rebecca J. Schmidt, Moyra Smith, Claudia I.C. Souza, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, David J. Cutler, Silvia De Rubeis, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Stephan Sanders, Michael E. Talkowski

    Հրապարակվել է 2021
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
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  16. 16
    Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism ‌ F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An, Minshi Peng, Ryan L. Collins, Jakob Grove, Lambertus Klei, Christine Stevens, Jennifer Reichert, Maureen Mulhern, Mykyta Artomov, Sherif Gerges, Brooke Sheppard, Xinyi Xu, Aparna Bhaduri, Utku Norman, Harrison Brand, Grace Schwartz, Rachel Nguyen, Elizabeth E. Guerrero, Caroline Dias, Catalina Betancur, Edwin H. Cook, Louise Gallagher, Michael Gill, James S. Sutcliffe, Audrey Thurm, Michael E. Zwick, Anders D. Børglum, Matthew W. State, A. Ercüment Çiçek, Michael E. Talkowski, David J. Cutler, Bernie Devlin, Stephan Sanders, Kathryn Roeder, Mark J. Daly, Joseph D. Buxbaum, Branko Aleksić, Richard Anney, Mafalda Barbosa, Somer Bishop, Alfredo Brusco, Jonas Bybjerg‐Grauholm, Ángel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian Hon‐Yin Chung, Hilary Coon, Michael L. Cuccaro, Aurora Currò, Bernardo Dalla Bernardina, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Menachem Fromer, J. Jay Gargus, Daniel H. Geschwind, Elisa Giorgio, Javier González‐Peñas, Stephen J. Guter, Danielle Halpern, Emily Hansen‐Kiss, Xin He, Gail E. Herman, Irva Hertz‐Picciotto, David M. Hougaard, Christina M. Hultman, Iuliana Ionita‐Laza, Suma Jacob, Jesslyn Jamison, Astanand Jugessur, Miia Kaartinen, Gun Peggy Knudsen, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Elaine T. Lim, Carla Lintas, W. Ian Lipkin, Diego Lopergolo, Fátima Lopes, Yunin Ludeña, Patrı́cia Maciel, Per Magnus, Behrang Mahjani, Nell Maltman, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew

    Հրապարակվել է 2020
    Ստացեք ամբողջական տեքստը
    Artigo
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  17. 17
    Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

    Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk ‌ F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An, Minshi Peng, Ryan L. Collins, Jakob Grove, Lambertus Klei, Christine Stevens, Jennifer Reichert, Maureen Mulhern, Mykyta Artomov, Sherif Gerges, Brooke Sheppard, Xinyi Xu, Aparna Bhaduri, Utku Norman, Harrison Brand, Grace Schwartz, Rachel Nguyen, Elizabeth E. Guerrero, Caroline Dias, Branko Aleksić, Richard Anney, Mafalda Barbosa, Somer Bishop, Alfredo Brusco, Jonas Bybjerg‐Grauholm, Ángel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian Hon‐Yin Chung, Hilary Coon, Michael L. Cuccaro, Aurora Currò, Bernardo Dalla Bernardina, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Menachem Fromer, J. Jay Gargus, Daniel H. Geschwind, Elisa Giorgio, Javier González‐Peñas, Stephen J. Guter, Danielle Halpern, Emily Hansen‐Kiss, Xin He, Gail E. Herman, Irva Hertz‐Picciotto, David M. Hougaard, Christina M. Hultman, Iuliana Ionita‐Laza, Suma Jacob, Jesslyn Jamison, Astanand Jugessur, Miia Kaartinen, Gun Peggy Knudsen, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Elaine T. Lim, Carla Lintas, W. Ian Lipkin, Diego Lopergolo, Fátima Lopes, Yunin Ludeña, Patrı́cia Maciel, Per Magnus, Behrang Mahjani, Nell Maltman, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew, Eduarda Montenegro M. de Souza, Danielle de Paula Moreira, Eric M. Morrow, Ole Mors, Preben Bo Mortensen, Matthew W. Mosconi, Pierandrea Muglia, Benjamin M. Neale, Merete Nordentoft, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos‐Bueno, Margaret A. Pericak‐Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը
    Pré-impressão
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  18. 18
    Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

    Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism ‌ F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An, Minshi Peng, Ryan L. Collins, Jakob Grove, Lambertus Klei, Christine Stevens, Jennifer Reichert, Maureen Mulhern, Mykyta Artomov, Sherif Gerges, Brooke Sheppard, Xinyi Xu, Aparna Bhaduri, Utku Norman, Harrison Brand, Grace Schwartz, Rachel Nguyen, Elizabeth E. Guerrero, Caroline Dias, Branko Aleksić, Richard Anney, Mafalda Barbosa, Somer Bishop, Alfredo Brusco, Jonas Bybjerg‐Grauholm, Ángel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian Hon‐Yin Chung, Hilary Coon, Michael L. Cuccaro, Aurora Currò, Bernardo Dalla Bernardina, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Menachem Fromer, J. Jay Gargus, Daniel H. Geschwind, Elisa Giorgio, Javier González‐Peñas, Stephen J. Guter, Danielle Halpern, Emily Hansen‐Kiss, Xin He, Gail E. Herman, Irva Hertz‐Picciotto, David M. Hougaard, Christina M. Hultman, Iuliana Ionita‐Laza, Suma Jacob, Jesslyn Jamison, Astanand Jugessur, Miia Kaartinen, Gun Peggy Knudsen, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Elaine T. Lim, Carla Lintas, W. Ian Lipkin, Diego Lopergolo, Fátima Lopes, Yunin Ludeña, Patrı́cia Maciel, Per Magnus, Behrang Mahjani, Nell Maltman, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew, Eduarda Montenegro M. de Souza, Danielle de Paula Moreira, Eric M. Morrow, Ole Mors, Preben Bo Mortensen, Matthew W. Mosconi, Pierandrea Muglia, Benjamin M. Neale, Merete Nordentoft, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos‐Bueno, Margaret A. Pericak‐Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
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  19. 19
    Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Rare coding variation provides insight into the genetic architecture and phenotypic context of autism ‌ Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P. Hao, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian Hon‐Yin Chung, Edwin H. Cook, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, James S. Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Simona Cardaropoli, Diana Carli, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina De Sanctis Girardi, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Rebecca J. Schmidt, Moyra Smith, Claudia Ismania Samogy Costa, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, Branko Aleksić, Mykyta Artomov, Elisa Benetti, Monica Biscaldi-Schafer, Anders D. Børglum, Ángel Carracedo, Andreas G. Chiocchetti, Hilary Coon, Ryan N. Doan, Montserrat Fernández Prieto, Christine M. Freitag, Sherif Gerges, Stephen J. Guter, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Alexander Kolevzon, Itaru Kushima, Terho Lehtimäki, Caterina Lo Rizzo, Nell Maltman, Marianna Manara, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew, Matthew W. Mosconi, Norio Ozaki, Aarno Palotie, Mara Parellada, Kaija Puura, Abraham Reichenberg, Sven Sandin, Stephen W. Scherer, Sabine Schlitt

    Հրապարակվել է 2022
    Ստացեք ամբողջական տեքստը
    Revisão
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