Suchergebnisse - Olena Korvatska

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  1. 1
    R47H Variant of<i>TREM2</i>Associated With Alzheimer Disease in a Large Late-Onset Family

    R47H Variant of<i>TREM2</i>Associated With Alzheimer Disease in a Large Late-Onset Family von Olena Korvatska, James B. Leverenz, Suman Jayadev, Pamela J. McMillan, Irina Kurtz, Xindi Guo, Malia Rumbaugh, Mark Matsushita, Santhosh Girirajan, Michael O. Dorschner, Kostantin Kiianitsa, Chang-En Yu, Zoran Brkanac, Gwenn A. Garden, Wendy H. Raskind, Thomas D. Bird

    Veröffentlicht 2015
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  2. 2
    Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

    Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS) von Olena Korvatska, Nicholas S. Strand, Jason D. Berndt, Tim Strovas, Dong Hui Chen, James B. Leverenz, Konstantin Kiianitsa, Ignácio F. Mata, Emre Karakoç, J. Lynne Greenup, Emily Bonkowski, Joseph Chuang, Randall T. Moon, Evan E. Eichler, Deborah A. Nickerson, Cyrus P. Zabetian, Brian C. Kraemer, Thomas D. Bird, Wendy H. Raskind

    Veröffentlicht 2013
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  3. 3
    High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

    High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility von Elena Maestrini, Alistair T. Pagnamenta, Janine A. Lamb, Elena Bacchelli, Nuala Sykes, Inês Sousa, Claudio Toma, Gabrielle Barnby, Helen Butler, Laura Winchester, Thomas Scerri, Fiorella Minopoli, Jennifer Reichert, Guiqing Cai, Joseph D. Buxbaum, Olena Korvatska, Gerry Schellenberg, Géraldine Dawson, Annelies de Bildt, Ruud B. Minderaa, E Mulder, Andrew P. Morris, Anthony Bailey, Anthony P. Monaco

    Veröffentlicht 2009
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  4. 4
    Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

    Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation von Fabia Filipello, Shih‐Feng You, Farzaneh S. Mirfakhar, Sidhartha Mahali, Bryan Bollman, Mariana Acquarone, Olena Korvatska, Jacob Marsh, Anirudh Sivaraman, Rita Martinez, Claudia Cantoni, Luca De Feo, Laura Ghezzi, Miguel Minaya, Arun Renganathan, Anil G. Cashikar, Jun‐ichi Satoh, Wandy L. Beatty, Abhirami K. Iyer, Marina Cella, Wendy H. Raskind, Laura Piccio, Celeste M. Karch

    Veröffentlicht 2023
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  5. 5
    Common genetic variants on 5p14.1 associate with autism spectrum disorders

    Common genetic variants on 5p14.1 associate with autism spectrum disorders von Kai Wang, Haitao Zhang, Deqiong Ma, Maja Bućan, Joseph Glessner, Brett S. Abrahams, Daria Salyakina, Marcin Imieliński, Jonathan P. Bradfield, Patrick Sleiman, Chong Ae Kim, Cuiping Hou, Edward C. Frackelton, Rosetta Chiavacci, Nagahide Takahashi, Takeshi Sakurai, Eric Rappaport, Clara Lajonchere, Jeffrey Munson, Annette Estes, Olena Korvatska, Joseph Piven, Lisa I. Sonnenblick, Ana I. Alvarez Retuerto, Edward I. Herman, Hongmei Dong, Ted Hutman, Marian Sigman, Sally Ozonoff, Ami Klin, Thomas Owley, John A. Sweeney

    Veröffentlicht 2009
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  6. 6
    <i>ADCY5</i> -related dyskinesia

    <i>ADCY5</i> -related dyskinesia von Donghui Chen, Aurélie Méneret, Jennifer Friedman, Olena Korvatska, Alona Gad, Emily Bonkowski, Holly A.F. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon‐Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven P. Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael D. Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

    Veröffentlicht 2015
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  7. 7
    Common genetic variants on 5p14.1 associate with autism spectrum disorders

    Common genetic variants on 5p14.1 associate with autism spectrum disorders von Kai Wang, Haitao Zhang, Deqiong Ma, Maja Bućan, Joseph Glessner, Brett S. Abrahams, Daria Salyakina, Marcin Imieliński, Jonathan P. Bradfield, Patrick Sleiman, Chong Ae Kim, Cuiping Hou, Edward C. Frackelton, Rosetta Chiavacci, Nagahide Takahashi, Takeshi Sakurai, Eric Rappaport, Clara Lajonchere, Jeffrey Munson, Annette Estes, Olena Korvatska, Joseph Piven, Lisa I. Sonnenblick, Ana I. Alvarez Retuerto, Edward I. Herman, Hongmei Dong, Ted Hutman, Marian Sigman, Sally Ozonoff, Ami Klin, Thomas Owley, John A. Sweeney, Camille W. Brune, Rita M. Cantor, Raphael Bernier, John R. Gilbert, Michael L. Cuccaro, William M. McMahon, Judith Miller, Matthew W. State, Thomas H. Wassink, Hilary Coon, Susan E. Levy, Robert T. Schultz, John I. Nürnberger, Jonathan L. Haines, James S. Sutcliffe, Edwin H. Cook, Nancy J. Minshew, Joseph D. Buxbaum, Géraldine Dawson, Struan F.A. Grant, Daniel H. Geschwind, Margaret A. Pericak‐Vance, Gerard D. Schellenberg, Hákon Hákonarson

    Veröffentlicht 2009
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  8. 8
    Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

    Autism genome-wide copy number variation reveals ubiquitin and neuronal genes von Joseph Glessner, Kai Wang, Guiqing Cai, Olena Korvatska, Cecilia E. Kim, Shawn Wood, Haitao Zhang, Annette Estes, Camille W. Brune, Jonathan P. Bradfield, Marcin Imieliński, Edward C. Frackelton, Jennifer Reichert, Emily L. Crawford, Jeffrey Munson, Patrick Sleiman, Rosetta Chiavacci, Kiran Annaiah, Kelly Thomas, Cuiping Hou, Wendy Glaberson, James H. Flory, F. George Otieno, Maria Garris, Latha Soorya, Lambertus Klei, Joseph Piven, Kacie J. Meyer, Evdokia Anagnostou, Takeshi Sakurai, Rachel M. Game, Danielle S. Rudd, Danielle Zurawiecki, Christopher J. McDougle, Lea K. Davis, Judith Miller, David J. Posey, Shana M. Michaels, Alexander Kolevzon, Jeremy M. Silverman, Raphael Bernier, Susan E. Levy, Robert T. Schultz, Géraldine Dawson, Thomas Owley, William M. McMahon, Thomas H. Wassink, John A. Sweeney, John I. Nürnberger, Hilary Coon, James S. Sutcliffe, Nancy J. Minshew, Struan F.A. Grant, Maja Bućan, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Gerard D. Schellenberg, Hákon Hákonarson

    Veröffentlicht 2009
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  9. 9
    Functional impact of global rare copy number variation in autism spectrum disorders

    Functional impact of global rare copy number variation in autism spectrum disorders von Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhães, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Sven Bölte, Patrick Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian P. Casey, Brian Hon‐Yin Chung, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Cheryl Cytrynbaum, Géraldine Dawson, Maretha Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Anath C. Lionel, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William J. Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Κaterina Papanikolaou, Jeremy Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge

    Veröffentlicht 2010
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  10. 10
    A genome-wide scan for common alleles affecting risk for autism

    A genome-wide scan for common alleles affecting risk for autism von Richard Anney, Lambertus Klei, Dalila Pinto, Regina Regan, Jennifer Conroy, Tiago R. Magalhães, Catarina Correia, Brett S. Abrahams, N. Sykes, A. T. Pagnamenta, J.-P. de Almeida, Elena Bacchelli, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Sven Bölte, P. F. Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, A. R. Carson, Guillermo Casallo, Jillian P. Casey, Su H. Chu, Lynne Cochrane, Christina Corsello, E. L. Crawford, A. Crossett, Géraldine Dawson, Maretha Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, Christine M. Freitag, James Gilbert, Christopher Gillberg, Joseph Glessner, Joel O. Goldberg, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, C. Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, A. C. Lionel, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William J. Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Nadine Melhem, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, C. Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Κaterina Papanikolaou, Jeremy Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Joseph Piven, David J. Posey, Annemarie Poustka, Fritz Poustka

    Veröffentlicht 2010
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  11. 11
    A genome-wide linkage and association scan reveals novel loci for autism

    A genome-wide linkage and association scan reveals novel loci for autism von Lauren A. Weiss, Dan E. Arking, Mark J. Daly, Aravinda Chakravarti, Camille W. Brune, Kristen M. West, Ashley O’Connor, Gina M. Hilton, R Tomlinson, Andrew B. West, Edwin H. Cook, Todd Green, Shun-Chiao Chang, Stacey B. Gabriel, Casey Gates, Ellen Hanson, Andrew Kirby, Joshua M. Korn, Finny G. Kuruvilla, Steven McCarroll, Eric M. Morrow, Benjamin M. Neale, Shaun Purcell, Roksana Sasanfar, Carrie Sougnez, Christine Stevens, David Altshuler, James F. Gusella, Susan L. Santangelo, Pamela Sklar, Rudolph E. Tanzi, Richard Anney, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Catalina Betancur, Sven Bölte, Patrick Bolton, Jessica Brian, Susan E. Bryson, Joseph D. Buxbaum, Ines Cabrito, Guiqing Cai, Rita M. Cantor, Hilary Coon, Judith Conroy, Catarina Correia, Christina Corsello, Emily L. Crawford, Michael L. Cuccaro, Géraldine Dawson, Maretha Jonge, Bernie Devlin, Eftichia Duketis, Sean Ennis, Annette Estes, Penny Farrar, Éric Fombonne, Christine M. Freitag, Louise Gallagher, Daniel H. Geschwind, John R. Gilbert, Michael Gill, Christopher Gillberg, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Jonathan L. Haines, Joachim Hallmayer, Vanessa Hus, Sabine M. Klauck, Olena Korvatska, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett L. Leventha, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Elena Maestrini, Tiago R. Magalhães, William J. Mahoney, Carine Mantoulan, Helen McConachie, Christopher J. McDougle, William M. McMahon, Christian R. Marshall, Judith Miller, Nancy J. Minshew, Anthony P. Monaco, Jeff Munson, John I. Nürnberger, Guiomar Oliveira, Alistair T. Pagnamenta, Katerina Papanikolaou, Jeremy Parr, Andrew D. Paterson

    Veröffentlicht 2009
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