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Items: 13

1.
Michael Zech, Sylvia Boesch, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Franco Laccone, Veronika Pilshofer, Andres Ceballos-Baumann, Bader Alhaddad, Riccardo Berutti, Werner Poewe, Tobias B. Haack, Bernhard Haslinger, Tim M. Strom, Juliane Winkelmann
Am J Hum Genet. 2016 Dec 1; 99(6): 1377–1387. Published online 2016 Nov 10. doi: 10.1016/j.ajhg.2016.10.010
PMCID:
PMC5142117
2.
Alice R. Gardiner, Fatima Jaffer, Russell C. Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann, Tom Warner, Paul Jarman, Mike Hanna, Manju A. Kurian, Kailash P. Bhatia, Henry Houlden
Brain. 2015 Dec; 138(12): 3567–3580. Published online 2015 Nov 18. doi: 10.1093/brain/awv310
PMCID:
PMC4655345
3.
Aloysius Domingo, Ana Westenberger, Lillian V Lee, Ingrid Brænne, Tian Liu, Inga Vater, Raymond Rosales, Roland Dominic Jamora, Paul Matthew Pasco, Eva Maria Cutiongco-dela Paz, Karen Freimann, Thomas GPM Schmidt, Dirk Dressler, Frank J Kaiser, Lars Bertram, Jeanette Erdmann, Katja Lohmann, Christine Klein
Eur J Hum Genet. 2015 Oct; 23(10): 1334–1340. Published online 2015 Jan 21. doi: 10.1038/ejhg.2014.292
PMCID:
PMC4592086
4.
Erin L. Heinzen, Alexis Arzimanoglou, Allison Brashear, Steven J. Clapcote, Fiorella Gurrieri, David B. Goldstein, Sigurður H. Jóhannesson, Mohamad A. Mikati, Brian Neville, Sophie Nicole, Laurie J. Ozelius, Hanne Poulsen, Tsveta Schyns, Kathleen J. Sweadner, Arn van den Maagdenberg, Bente Vilsen, ATP1A3 Working Group
Lancet Neurol.
Published in final edited form as: Lancet Neurol. 2014 May; 13(5): 503–514. doi: 10.1016/S1474-4422(14)70011-0
PMCID:
PMC4238309
5.
Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian, Henry H. Houlden, James Anderson, Nathalie Boddaert, Lynn Sanford, Sami I. Harik, Vasuki H. Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark Tarnopolsky, Steven Skinner, Kenton R. Holden, Steven Frucht, Era Hanspal, Connie Schrander-Stumpel, Cyril Mignot, Delphine Héron, Dawn E. Saunders, Margaret Kaminska, Jean-Pierre Lin, Karine Lascelles, Stephan M. Cuno, Esther Meyer, Barbara Garavaglia, Kailash Bhatia, Rajith de Silva, Sarah Crisp, Peter Lunt, Martyn Carey, John Hardy, Thomas Meitinger, Holger Prokisch, Penelope Hogarth
Brain. 2013 Jun; 136(6): 1708–1717. Published online 2013 May 17. doi: 10.1093/brain/awt095
PMCID:
PMC3673459
6.
Satya R. Vemula, Andreas Puschmann, Jianfeng Xiao, Yu Zhao, Monika Rudzińska, Karen P. Frei, Daniel D. Truong, Zbigniew K. Wszolek, Mark S. LeDoux
Hum Mol Genet. 2013 Jun 15; 22(12): 2510–2519. Published online 2013 Feb 27. doi: 10.1093/hmg/ddt102
PMCID:
PMC3658169
7.
Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry-Kravis, Nicola C. Foulds, Simon R. Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay Reese, Randall L. Woltjer, Susan J. Hayflick
Neurology. 2013 Jan 15; 80(3): 268–275. doi: 10.1212/WNL.0b013e31827e07be
PMCID:
PMC3589182
8.
Tania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, Marta San Luciano, Deborah Raymond, Stewart Factor, Anthony E. Lang, Tsao-Wei Liang, Richard M. Trosch, Sierra White, Edmond Ainehsazan, Denis Herve, Nutan Sharma, Michelle E. Ehrlich, Kirill A. Martemyanov, Susan B. Bressman, Laurie J. Ozelius
Nat Genet.
Published in final edited form as: Nat Genet. 2013 Jan; 45(1): 88–92. Published online 2012 Dec 9. doi: 10.1038/ng.2496
PMCID:
PMC3530620
9.
Gavin Charlesworth, Vincent Plagnol, Kira M. Holmström, Jose Bras, Una-Marie Sheerin, Elisavet Preza, Ignacio Rubio-Agusti, Mina Ryten, Susanne A. Schneider, Maria Stamelou, Daniah Trabzuni, Andrey Y. Abramov, Kailash P. Bhatia, Nicholas W. Wood
Am J Hum Genet. 2012 Dec 7; 91(6): 1041–1050. doi: 10.1016/j.ajhg.2012.10.024
PMCID:
PMC3516598
10.
Connie Marras, Katja Lohmann, Anthony Lang, Christine Klein
Neurology. 2012 Mar 27; 78(13): 1016–1024. doi: 10.1212/WNL.0b013e31824d58ab
PMCID:
PMC3310311
11.
Neil J.  Risch, Susan B.  Bressman, Geetha  Senthil, Laurie J.  Ozelius
Am J Hum Genet. 2007 Jun; 80(6): 1188–1193. Published online 2007 Apr 27. doi: 10.1086/518427
PMCID:
PMC1867106
12.
A Munchau, D Mathen, T Cox, N Quinn, C Marsden, K Bhatia
J Neurol Neurosurg Psychiatry. 2000 Oct; 69(4): 494–498. doi: 10.1136/jnnp.69.4.494
PMCID:
PMC1737132
13.
Birgitt Müller, Katja Hedrich, Norman Kock, Natasa Dragasevic, Marina Svetel, Jennifer Garrels, Olfert Landt, Matthias Nitschke, Peter P. Pramstaller, Wolf Reik, Eberhard Schwinger, Jürgen Sperner, Laurie Ozelius, Vladimir Kostic, Christine Klein
Am J Hum Genet. 2002 Dec; 71(6): 1303–1311. Published online 2002 Nov 20. doi: 10.1086/344531
PMCID:
PMC378568

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