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Items: 1 to 20 of 35

1.
Roy Dayan, Shiri Shkedi Rafid, Halen Baker Erdman, Caroline Weill, Avraham Shag, Vardiella Meiner, David Arkadir
Mov Disord Clin Pract. 2024 Mar; 11(3): 306–308. Published online 2024 Jan 31. doi: 10.1002/mdc3.13953
PMCID:
PMC10928327
2.
David J. Koss, Odeta Bondarevaite, Sara Adams, Marta Leite, Flaviano Giorgini, Johannes Attems, Tiago F. Outeiro
Brain Pathol. 2021 Jan; 31(1): 120–132. Published online 2020 Aug 25. doi: 10.1111/bpa.12890
PMCID:
PMC8018064
3.
Kyndall Hodges, Sheridan S. Brewer, Catherine Labbé, Alexandra I. Soto-Ortolaza, Ronald L. Walton, Audrey J. Strongosky, Ryan J. Uitti, Jay A. van Gerpen, Nilüfer Ertekin-Taner, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, Rodolfo Savica, Jonathan Graff-Radford, David T. Jones, David S. Knopman, Ronald C. Petersen, Melissa E. Murray, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Zbigniew K. Wszolek, Bradley F. Boeve, Owen A. Ross, Oswaldo Lorenzo-Betancor
Neurobiol Aging.
Published in final edited form as: Neurobiol Aging. 2016 Sep; 45: 107–108. Published online 2016 Mar 24. doi: 10.1016/j.neurobiolaging.2016.03.021
PMCID:
PMC5954832
4.
Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer
Mol Autism. 2017; 8: 59. Published online 2017 Nov 9. doi: 10.1186/s13229-017-0175-3
PMCID:
PMC5679329
5.
Ji-feng Kang, Yang Luo, Bei-sha Tang, Chang-min Wan, Yang Yang, Kai Li, Zhen-hua Liu, Qi-ying Sun, Qian Xu, Xin-xiang Yan, Ji-feng Guo
Sci Rep. 2016; 6: 34502. Published online 2016 Oct 3. doi: 10.1038/srep34502
PMCID:
PMC5046083
6.
Ignacio F. Mata, Yongwoo Jang, Chun-Hyung Kim, David S. Hanna, Michael O. Dorschner, Ali Samii, Pinky Agarwal, John W. Roberts, Olga Klepitskaya, David R. Shprecher, Kathryn A. Chung, Stewart A. Factor, Alberto J. Espay, Fredy J. Revilla, Donald S. Higgins, Irene Litvan, James B. Leverenz, Dora Yearout, Miguel Inca-Martinez, Erica Martinez, Tiffany R. Thompson, Brenna A. Cholerton, Shu-Ching Hu, Karen L. Edwards, Kwang-Soo Kim, Cyrus P. Zabetian
Mol Neurodegener. 2015; 10: 50. Published online 2015 Sep 24. doi: 10.1186/s13024-015-0045-4
PMCID:
PMC4581468
7.
Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, Maila Giannandrea, Charles A. Galea, Jessica R. Riseley, Sarah E.M. Stephenson, Elizabeth Fitzpatrick, Stefan A. Haas, Kate Pope, Kirk J. Hogan, Ronald G. Gregg, Catherine J. Bromhead, David S. Wargowski, Christopher H. Lawrence, Paul A. James, Andrew Churchyard, Yujing Gao, Dean G. Phelan, Greta Gillies, Nicholas Salce, Lynn Stanford, Ashley P.L. Marsh, Maria L. Mignogna, Susan J. Hayflick, Richard J. Leventer, Martin B. Delatycki, George D. Mellick, Vera M. Kalscheuer, Patrizia D’Adamo, Melanie Bahlo, David J. Amor, Paul J. Lockhart
Am J Hum Genet. 2014 Dec 4; 95(6): 729–735. doi: 10.1016/j.ajhg.2014.10.015
PMCID:
PMC4259921
8.
Maria Lidia Mignogna, Romina Ficarella, Susanna Gelmini, Lucia Marzulli, Emanuela Ponzi, Alessandra Gabellone, Antonia Peschechera, Massino Alessio, Lucia Margari, Mattia Gentile, Patrizia D’Adamo
Hum Mol Genet. 2022 May 1; 31(9): 1389–1406. Published online 2021 Nov 11. doi: 10.1093/hmg/ddab320
PMCID:
PMC9071400
9.
K. David Kennedy, S. A. AnithaChristy, LaKisha K. Buie, Teresa Borrás
PLoS One. 2012; 7(5): e36301. Published online 2012 May 15. doi: 10.1371/journal.pone.0036301
PMCID:
PMC3352898
10.
Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans-Hilger Ropers, Andreas Tzschach, Vera Kalscheuer, Barbara Oehl-Jaschkowitz, Cindy Skinner, Charles E. Schwartz, Jozef Gecz, Hilde Van Esch, Martine Raynaud, Jamel Chelly, Arjan P.M. de Brouwer, Daniela Toniolo, Patrizia D'Adamo
Am J Hum Genet. 2010 Feb 12; 86(2): 185–195. doi: 10.1016/j.ajhg.2010.01.011
PMCID:
PMC2820185
11.
Maria Lidia Mignogna, Maila Giannandrea, Antonia Gurgone, Francesca Fanelli, Francesco Raimondi, Lisa Mapelli, Silvia Bassani, Huaqiang Fang, Eelco Van Anken, Massimo Alessio, Maria Passafaro, Silvia Gatti, José A. Esteban, Richard Huganir, Patrizia D’Adamo
Nat Commun. 2015 Mar 18; 6: 6504. Published online 2015 Mar 18. doi: 10.1038/ncomms7504
PMCID:
PMC4383008
12.
Amélie Piton, Claire Redin, Jean-Louis Mandel
Am J Hum Genet. 2013 Aug 8; 93(2): 368–383. doi: 10.1016/j.ajhg.2013.06.013
PMCID:
PMC3738825
13.
Mei Yang, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, Jian-Fu Chen
Sci Adv. 2016 Sep; 2(9): e1601167. Published online 2016 Sep 2. doi: 10.1126/sciadv.1601167
PMCID:
PMC5010369
14.
Andrew J. Lindsay, Florence Jollivet, Conor P. Horgan, Amir R. Khan, Graça Raposo, Mary W. McCaffrey, Bruno Goud
Mol Biol Cell. 2013 Nov 1; 24(21): 3420–3434. doi: 10.1091/mbc.E13-05-0236
PMCID:
PMC3814135
15.
Chantal Sellier, Maria‐Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb‐Cheynel, Mustapha Oulad‐Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi, Nicolas Charlet‐Berguerand
EMBO J. 2016 Jun 15; 35(12): 1276–1297. Published online 2016 Apr 21. doi: 10.15252/embj.201593350
PMCID:
PMC4910533
16.
Stefanie L. Butland, Shaun S. Sanders, Mandi E. Schmidt, Sean-Patrick Riechers, David T.S. Lin, Dale D.O. Martin, Kuljeet Vaid, Rona K. Graham, Roshni R. Singaraja, Erich E. Wanker, Elizabeth Conibear, Michael R. Hayden
Hum Mol Genet. 2014 Aug 1; 23(15): 4142–4160. Published online 2014 Apr 4. doi: 10.1093/hmg/ddu137
PMCID:
PMC4082372
17.
Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley
Nature.
Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440
PMCID:
PMC2665286
18.
Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann
EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058
PMCID:
PMC1083732
19.
Alexander Mehrle, Heiko Rosenfelder, Ingo Schupp, Coral del Val, Dorit Arlt, Florian Hahne, Stephanie Bechtel, Jeremy Simpson, Oliver Hofmann, Winston Hide, Karl-Heinz Glatting, Wolfgang Huber, Rainer Pepperkok, Annemarie Poustka, Stefan Wiemann
Nucleic Acids Res. 2006 Jan 1; 34(Database issue): D415–D418. Published online 2005 Dec 28. doi: 10.1093/nar/gkj139
PMCID:
PMC1347501
20.
Stefan Wiemann, Dorit Arlt, Wolfgang Huber, Ruth Wellenreuther, Simone Schleeger, Alexander Mehrle, Stephanie Bechtel, Mamatha Sauermann, Ulrike Korf, Rainer Pepperkok, Holger Sültmann, Annemarie Poustka
Genome Res. 2004 Oct; 14(10b): 2136–2144. doi: 10.1101/gr.2576704
PMCID:
PMC528930

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