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Items: 1 to 20 of 24

1.
Gabriela E. Oprea, Sandra Kröber, Michelle L. McWhorter, Wilfried Rossoll, Stefan Müller, Michael Krawczak, Gary J. Bassell, Christine E. Beattie, Brunhilde Wirth
Science.
Published in final edited form as: Science. 2008 Apr 25; 320(5875): 524–527. doi: 10.1126/science.1155085
PMCID:
PMC4908855
2.
Thomas W. Prior, Kathryn J. Swoboda, H. Denman Scott, Ashley Q. Hejmanowski
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2004 Oct 15; 0(3): 307–310. doi: 10.1002/ajmg.a.30251
PMCID:
PMC4349519
3.
Melissa Bowerman, Kathryn J. Swoboda, John-Paul Michalski, Gen-Sheng Wang, Courtney Reeks, Ariane Beauvais, Kelley Murphy, John Woulfe, Robert A. Screaton, Fraser W. Scott, Rashmi Kothary
Ann Neurol.
Published in final edited form as: Ann Neurol. 2012 Aug; 72(2): 256–268. doi: 10.1002/ana.23582
PMCID:
PMC4334584
4.
Kathryn J. Swoboda, Thomas W. Prior, Charles B. Scott, Teresa P. McNaught, Mark C. Wride, Sandra P. Reyna, Mark B. Bromberg
Ann Neurol.
Published in final edited form as: Ann Neurol. 2005 May; 57(5): 704–712. doi: 10.1002/ana.20473
PMCID:
PMC4334582
5.
Mark B. Bromberg, Kathryn J. Swoboda
Muscle Nerve.
Published in final edited form as: Muscle Nerve. 2002 Mar; 25(3): 445–447.
PMCID:
PMC4334581
6.
Richard S. Finkel, Michael P. McDermott, Petra Kaufmann, Basil T. Darras, Wendy K. Chung, Douglas M. Sproule, Peter B. Kang, A. Reghan Foley, Michelle L. Yang, William B. Martens, Maryam Oskoui, Allan M. Glanzman, Jean Flickinger, Jacqueline Montes, Sally Dunaway, Jessica O'Hagen, Janet Quigley, Susan Riley, Maryjane Benton, Patricia A. Ryan, Megan Montgomery, Jonathan Marra, Clifton Gooch, Darryl C. De Vivo
Neurology. 2014 Aug 26; 83(9): 810–817. doi: 10.1212/WNL.0000000000000741
PMCID:
PMC4155049
7.
Eileen Workman, Stephen J. Kolb, Daniel J. Battle
Brain Res.
Published in final edited form as: Brain Res. 2012 Jun 26; 1462: 93–99. Published online 2012 Feb 28. doi: 10.1016/j.brainres.2012.02.051
PMCID:
PMC3448484
8.
Le T. Hao, Marc Wolman, Michael Granato, Christine E. Beattie
J Neurosci.
Published in final edited form as: J Neurosci. 2012 Apr 11; 32(15): 5074–5084. doi: 10.1523/JNEUROSCI.5808-11.2012
PMCID:
PMC3355766
9.
P. Kaufmann, F. Muntoni
Neuromuscul Disord.
Published in final edited form as: Neuromuscul Disord. 2007 Jun; 17(6): 499–505. Published online 2007 Feb 14. doi: 10.1016/j.nmd.2006.12.001
PMCID:
PMC3250230
10.
Elaine A Sugarman, Narasimhan Nagan, Hui Zhu, Viatcheslav R Akmaev, Zhaoqing Zhou, Elizabeth M Rohlfs, Kerry Flynn, Brant C Hendrickson, Thomas Scholl, Deborah Alexa Sirko-Osadsa, Bernice A Allitto
Eur J Hum Genet. 2012 Jan; 20(1): 27–32. Published online 2011 Aug 3. doi: 10.1038/ejhg.2011.134
PMCID:
PMC3234503
11.
Yimin Hua, Kentaro Sahashi, Frank Rigo, Gene Hung, Guy Horev, C. Frank Bennett, Adrian R. Krainer
Nature.
Published in final edited form as: Nature. 2011 Oct 6; 478(7367): 123–126. Published online 2011 Oct 5. doi: 10.1038/nature10485
PMCID:
PMC3191865
12.
Galina Yu Zheleznyakova, Anton V Kiselev, Viktor G Vakharlovsky, Mathias Rask-Andersen, Rohit Chavan, Anna A Egorova, Helgi B Schiöth, Vladislav S Baranov
BMC Med Genet. 2011; 12: 96. Published online 2011 Jul 15. doi: 10.1186/1471-2350-12-96
PMCID:
PMC3146920
13.
Kevin D Foust, Xueyong Wang, Vicki L McGovern, Lyndsey Braun, Adam K Bevan, Amanda M Haidet, Thanh T Le, Pablo R Morales, Mark M Rich, Arthur H M Burghes, Brian K Kaspar
Nat Biotechnol.
Published in final edited form as: Nat Biotechnol. 2010 Mar; 28(3): 271–274. Published online 2010 Feb 28. doi: 10.1038/nbt.1610
PMCID:
PMC2889698
14.
Matthew E. R. Butchbach, Ferrill F. Rose, Jr., Sarah Rhoades, John Marston, John T. McCrone, Rachel Sinnott, Christian L. Lorson
Biochem Biophys Res Commun.
Published in final edited form as: Biochem Biophys Res Commun. 2010 Jan 1; 391(1): 835–840. Published online 2009 Nov 27. doi: 10.1016/j.bbrc.2009.11.148
PMCID:
PMC2839161
15.
Thomas W. Prior, Adrian R. Krainer, Yimin Hua, Kathryn J. Swoboda, Pamela C. Snyder, Scott J. Bridgeman, Arthur H.M. Burghes, John T. Kissel
Am J Hum Genet. 2009 Sep 11; 85(3): 408–413. doi: 10.1016/j.ajhg.2009.08.002
PMCID:
PMC2771537
16.
I. Biros, S. Forrest
J Med Genet. 1999 Jan; 36(1): 1–8.
PMCID:
PMC1762953
17.
P E McAndrew, D W Parsons, L R Simard, C Rochette, P N Ray, J R Mendell, T W Prior, A H Burghes
Am J Hum Genet. 1997 Jun; 60(6): 1411–1422. doi: 10.1086/515465
PMCID:
PMC1716150
18.
B Wirth, T Schmidt, E Hahnen, S Rudnik-Schöneborn, M Krawczak, B Müller-Myhsok, J Schönling, K Zerres
Am J Hum Genet. 1997 Nov; 61(5): 1102–1111. doi: 10.1086/301608
PMCID:
PMC1716038
19.
A H Burghes
Am J Hum Genet. 1997 Jul; 61(1): 9–15. doi: 10.1086/513913
PMCID:
PMC1715883
20.
D W Parsons, P E McAndrew, S T Iannaccone, J R Mendell, A H Burghes, T W Prior
Am J Hum Genet. 1998 Dec; 63(6): 1712–1723. doi: 10.1086/302160
PMCID:
PMC1377643

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