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Items: 20

1.
Michael E. Shy, Grace Hobson, Manisha Jain, Odile Boespflug-Tanguy, James Garbern, Karen Sperle, Wen Li, Alex Gow, Diana Rodriguez, Enrico Bertini, Pedro Mancias, Karen Krajewski, Richard Lewis, John Kamholz
Ann Neurol.
Published in final edited form as: Ann Neurol. 2003 Mar; 53(3): 354–365. doi: 10.1002/ana.10466
PMCID:
PMC4744322
2.
Cherie M. Southwood, James Garbern, Wei Jiang, Alexander Gow
Neuron.
Published in final edited form as: Neuron. 2002 Nov 14; 36(4): 585–596.
PMCID:
PMC4603660
3.
Catherine Vaurs-Barriere, Kondi Wong, Thais D. Weibel, Mones Abu-Asab, Michael D. Weiss, Christine R. Kaneski, Tong-Hui Mixon, Simona Bonavita, Isabelle Creveaux, John D. Heiss, Maria Tsokos, Ehud Goldin, Richard H. Quarles, Odile Boespflug-Tanguy, Raphael Schiffmann
Ann Neurol.
Published in final edited form as: Ann Neurol. 2003 Dec; 54(6): 769–780. doi: 10.1002/ana.10762
Correction in:
volume 55 on page 149
PMCID:
PMC4294275
4.
Nalin Gupta, Roland G. Henry, Jonathan Strober, Sang-Mo Kang, Daniel A. Lim, Monica Bucci, Eduardo Caverzasi, Laura Gaetano, Maria Luisa Mandelli, Tamara Ryan, Rachel Perry, Jody Farrell, Rita J. Jeremy, Mary Ulman, Stephen L. Huhn, A. James Barkovich, David H. Rowitch
Sci Transl Med.
Published in final edited form as: Sci Transl Med. 2012 Oct 10; 4(155): 155ra137. doi: 10.1126/scitranslmed.3004373
Correction in:
volume 4 on page 165er8
PMCID:
PMC3893824
5.
Fanny Mochel, Nadège Boildieu, Julie Barritault, Catherine Sarret, Eleonore Eymard-Pierre, François Seguin, Raphael Schiffmann, Odile Boespflug-Tanguy
Biochim Biophys Acta.
Published in final edited form as: Biochim Biophys Acta. 2010 Nov; 1802(11): 1112–1117. Published online 2010 Jul 13. doi: 10.1016/j.bbadis.2010.07.005
PMCID:
PMC2943030
6.
J.L. Bonkowsky, C. Nelson, J.L. Kingston, F.M. Filloux, M.B. Mundorff, R. Srivastava
Neurology. 2010 Aug 24; 75(8): 718–725. doi: 10.1212/WNL.0b013e3181eee46b
PMCID:
PMC2931652
7.
Jennifer L. Orthmann-Murphy, Ettore Salsano, Charles K. Abrams, Alberto Bizzi, Graziella Uziel, Mona M. Freidin, Eleonora Lamantea, Massimo Zeviani, Steven S. Scherer, Davide Pareyson
Brain. 2009 Feb; 132(2): 426–438. Published online 2008 Dec 4. doi: 10.1093/brain/awn328
PMCID:
PMC2640216
8.
Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni-Baruch, Karl Skorecki, Hanna Mandel
Am J Hum Genet. 2008 Jul 11; 83(1): 30–42. Published online 2008 Jul 3. doi: 10.1016/j.ajhg.2008.05.016
PMCID:
PMC2443844
9.
Mikael Simons, Eva-Maria Krämer, Christoph Thiele, Wilhelm Stoffel, Jacqueline Trotter
J Cell Biol. 2000 Oct 2; 151(1): 143–154.
PMCID:
PMC2189802
10.
Jennifer L. Orthmann-Murphy, Alan D. Enriquez, Charles K. Abrams, Steven S. Scherer
Mol Cell Neurosci.
Published in final edited form as: Mol Cell Neurosci. 2007 Apr; 34(4): 629–641. Published online 2007 Jan 25. doi: 10.1016/j.mcn.2007.01.010
PMCID:
PMC1937038
11.
O. Boespflug-Tanguy, C. Mimault, J. Melki, A. Cavagna, G. Giraud, D. Pham Dinh, B. Dastugue, A. Dautigny
Am J Hum Genet. 1994 Sep; 55(3): 461–467.
PMCID:
PMC1918422
12.
N Muncke, B Wogatzky, M Breuning, E Sistermans, V Endris, M Ross, D Vetrie, C Catsman-Berrevoet..., G Rappold
J Med Genet. 2004 Dec; 41(12): e121. doi: 10.1136/jmg.2004.019141
PMCID:
PMC1735635
13.
W H Raskind, C A Williams, L D Hudson, T D Bird
Am J Hum Genet. 1991 Dec; 49(6): 1355–1360.
PMCID:
PMC1686465
14.
R L Touraine, T Attié-Bitach, E Manceau, E Korsch, P Sarda, V Pingault, F Encha-Razavi, A Pelet, J Augé, A Nivelon-Chevallier, A M Holschneider, M Munnes, W Doerfler, M Goossens, A Munnich, M Vekemans, S Lyonnet
Am J Hum Genet. 2000 May; 66(5): 1496–1503. Published online 2000 Apr 4. doi: 10.1086/302895
Correction in:
Am J Hum Genet, volume 66 on page 2020
PMCID:
PMC1378013
16.
K Woodward, E Kendall, D Vetrie, S Malcolm
Am J Hum Genet. 1998 Jul; 63(1): 207–217. doi: 10.1086/301933
PMCID:
PMC1377253
17.
M. E. Hodes, Karen Woodward, Nancy B. Spinner, Beverly S. Emanuel, Agnes Enrico-Simon, John Kamholz, Dwight Stambolian, Elaine H. Zackai, Victoria M. Pratt, I. T. Thomas, Kerry Crandall, Stephen R. Dlouhy, Sue Malcolm
Am J Hum Genet. 2000 Jul; 67(1): 14–22. Published online 2000 May 25. doi: 10.1086/302965
PMCID:
PMC1287072
18.
Karen J. Woodward, Maria Cundall, Karen Sperle, Erik A. Sistermans, Mark Ross, Gareth Howell, Susan M. Gribble, Deborah C. Burford, Nigel P. Carter, Donald L. Hobson, James Y. Garbern, John Kamholz, Henry Heng, M. E. Hodes, Sue Malcolm, Grace M. Hobson
Am J Hum Genet. 2005 Dec; 77(6): 966–987. Published online 2005 Oct 19. doi: 10.1086/498048
PMCID:
PMC1285180
19.
Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf, Nico Ruf, Angela M. Kaindl, Marco Henneke, Holger Thiele, Gisela Stoltenburg-Didinger, Fuat Aksu, Haluk Topaloğlu, Peter Nürnberg, Christoph Hübner, Bernhard Weschke, Jutta Gärtner
Am J Hum Genet. 2004 Aug; 75(2): 251–260. Published online 2004 Jun 10. doi: 10.1086/422763
PMCID:
PMC1216059
20.
Ken Inoue, Hitoshi Osaka, Virginia C. Thurston, Joe T. R. Clarke, Akira Yoneyama, Lisa Rosenbarker, Thomas D. Bird, M. E. Hodes, Lisa G. Shaffer, James R. Lupski
Am J Hum Genet. 2002 Oct; 71(4): 838–853. Published online 2002 Sep 20. doi: 10.1086/342728
PMCID:
PMC378540

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