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Items: 1 to 20 of 40

1.
Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Elise Schaefer, Hatice Karasoy, Melissa A. Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz-Laguna, Carina Wallgren-Pettersson, James Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary S. B. Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, Alain Furby, Jose E. Barcena Llona, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin-Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine Mathews, Lori A. H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie A. Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean-Louis Mandel, Alan H. Beggs, Jocelyn Laporte
Hum Mutat.
Published in final edited form as: Hum Mutat. 2012 Jun; 33(6): 949–959. Published online 2012 Apr 4. doi: 10.1002/humu.22067
PMCID:
PMC3374402
2.
Jorge A Pereira, Joanne Gerber, Monica Ghidinelli, Daniel Gerber, Luigi Tortola, Andrea Ommer, Sven Bachofner, Francesco Santarella, Elisa Tinelli, Shuo Lin, Markus A Rüegg, Manfred Kopf, Klaus V Toyka, Ueli Suter
Hum Mol Genet. 2020 May 28; 29(8): 1253–1273. Published online 2020 Mar 4. doi: 10.1093/hmg/ddaa034
PMCID:
PMC7254847
3.
Cinzia Bragato, Germano Gaudenzi, Flavia Blasevich, Giulio Pavesi, Lorenzo Maggi, Michele Giunta, Franco Cotelli, Marina Mora
Sci Rep. 2016; 6: 20466. Published online 2016 Feb 4. doi: 10.1038/srep20466
PMCID:
PMC4740890
4.
Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Janez Zidar, Boris Rogelj, Damjan Glavač, Metka Ravnik-Glavač
Front Mol Neurosci. 2018; 11: 106. Published online 2018 Apr 4. doi: 10.3389/fnmol.2018.00106
PMCID:
PMC5893848
5.
Albena Jordanova, Florian P. Thomas, Velina Guergueltcheva, Ivailo Tournev, Francisco A. A. Gondim, Borjana Ishpekova, Els De Vriendt, An Jacobs, Ivan Litvinenko, Neviana Ivanova, Borjan Buzhov, Peter De Jonghe, Ivo Kremensky, Vincent Timmerman
Am J Hum Genet. 2003 Dec; 73(6): 1423–1430. Published online 2003 Nov 6. doi: 10.1086/379792
PMCID:
PMC1180404
6.
Lei Liu, Ruxu Zhang
Neurosci Bull. 2014 Dec; 30(6): 999–1009. Published online 2014 Oct 17. doi: 10.1007/s12264-014-1475-7
PMCID:
PMC5562560
7.
Nyamkhishig Sambuughin, Lev G. Goldfarb, Tatiana M. Sivtseva, Tatiana K. Davydova, Vsevolod A. Vladimirtsev, Vladimir L. Osakovskiy, Al’bina P. Danilova, Raisa S. Nikitina, Anastasia N. Ylakhova, Margarita P. Diachkovskaya, Anna C. Sundborger, Neil M. Renwick, Fyodor A. Platonov, Jenny E. Hinshaw, Camilo Toro
BMC Neurol. 2015; 15: 223. Published online 2015 Oct 30. doi: 10.1186/s12883-015-0481-3
PMCID:
PMC4628244
8.
Boglarka Bansagi, Thalia Antoniadi, Sarah Burton-Jones, Sinead M. Murphy, John McHugh, Michael Alexander, Richard Wells, Joanna Davies, David Hilton-Jones, Hanns Lochmüller, Patrick Chinnery, Rita Horvath
J Neurol. 2015; 262(8): 1899–1908. Published online 2015 Jun 2. doi: 10.1007/s00415-015-7778-4
PMCID:
PMC4539360
9.
Bing-Wen Soong, Yen-Hua Huang, Pei-Chien Tsai, Chien-Chang Huang, Hung-Chuan Pan, Yi-Chun Lu, Hsin-Ju Chien, Tze-Tze Liu, Ming-Hong Chang, Kon-Ping Lin, Pang-Hsien Tu, Lung-Sen Kao, Yi-Chung Lee
Am J Hum Genet. 2013 Mar 7; 92(3): 422–430. doi: 10.1016/j.ajhg.2013.01.014
PMCID:
PMC3591844
10.
Elizabeth M. Gibbs, Ann E. Davidson, Arden Trickey-Glassman, Carey Backus, Yu Hong, Stacey A. Sakowski, James J. Dowling, Eva L. Feldman
PLoS One. 2013; 8(2): e55888. Published online 2013 Feb 13. doi: 10.1371/journal.pone.0055888
PMCID:
PMC3572173
11.
Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton, Kyproula Christodoulou
Eur J Hum Genet. 2013 Feb; 21(2): 190–194. Published online 2012 Jul 11. doi: 10.1038/ejhg.2012.146
PMCID:
PMC3548253
12.
Juan D. Ramirez, Phillip R.J. Barnes, Kerry R. Mills, David L.H. Bennett
Pain. 2012 Aug; 153(8): 1763–1768. doi: 10.1016/j.pain.2012.05.015
PMCID:
PMC3399778
13.
Kristien Verhoeven, Marcello Villanova, Alessandro Rossi, Alessandro Malandrini, Peter De Jonghe, Vincent Timmerman
Am J Hum Genet. 2001 Oct; 69(4): 889–894. Published online 2001 Aug 30. doi: 10.1086/323742
PMCID:
PMC1226075
14.
Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Antony Antonellis, Yi-Chung Lee
PLoS One. 2011; 6(12): e29393. Published online 2011 Dec 19. doi: 10.1371/journal.pone.0029393
PMCID:
PMC3242783
15.
M. L. Kennerson, D. Zhu, R. J. M. Gardner, E. Storey, J. Merory, S. P. Robertson, G. A. Nicholson
Am J Hum Genet. 2001 Oct; 69(4): 883–888. Published online 2001 Aug 28. doi: 10.1086/323743
PMCID:
PMC1226074
16.
Olga S. Koutsopoulos, Catherine Koch, Valerie Tosch, Johann Böhm, Kathryn N. North, Jocelyn Laporte
PLoS One. 2011; 6(11): e27498. Published online 2011 Nov 11. doi: 10.1371/journal.pone.0027498
PMCID:
PMC3214065
17.
Belinda S. Cowling, Anne Toussaint, Leonela Amoasii, Pascale Koebel, Arnaud Ferry, Laurianne Davignon, Ichizo Nishino, Jean-Louis Mandel, Jocelyn Laporte
Am J Pathol. 2011 May; 178(5): 2224–2235. doi: 10.1016/j.ajpath.2011.01.054
PMCID:
PMC3081151
18.
Howard J. Worman, Gisèle Bonne
Exp Cell Res.
Published in final edited form as: Exp Cell Res. 2007 Jun 10; 313(10): 2121–2133. Published online 2007 Mar 30. doi: 10.1016/j.yexcr.2007.03.028
PMCID:
PMC2964355
19.
Kristl G. Claeys, Stephan Züchner, Marina Kennerson, José Berciano, Antonio Garcia, Kristien Verhoeven, Elsdon Storey, John R. Merory, Henriette M. E. Bienfait, Martin Lammens, Eva Nelis, Jonathan Baets, Els De Vriendt, Zwi N. Berneman, Ilse De Veuster, Jefferey M. Vance, Garth Nicholson, Vincent Timmerman, Peter De Jonghe
Brain. 2009 Jul; 132(7): 1741–1752. Published online 2009 Jun 5. doi: 10.1093/brain/awp115
PMCID:
PMC2724916
20.
Laia Pedrola, Antonio Espert, Teresa Valdés-Sánchez, Maribel Sánchez-Piris, Erich E Sirkowski, Steven S Scherer, Isabel Fariñas, Francesc Palau
J Cell Mol Med. 2008 Apr; 12(2): 679–689. Published online 2007 Nov 16. doi: 10.1111/j.1582-4934.2007.00158.x
PMCID:
PMC2570022

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