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Items: 1 to 20 of 25

1.
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro, Jonathan Baets, Tine Deconinck, Peter DeJonghe, Paola Mandich, Giorgio Casari, Francesca Maltecca
J Med Genet. 2019 Aug; 56(8): 499–511. Published online 2019 Mar 25. doi: 10.1136/jmedgenet-2018-105766
PMCID:
PMC6678042
2.
Christine Zühlke, Barbara Mikat, Dagmar Timmann, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Katrin Bürk
Cerebellum Ataxias. 2015; 2: 19. Published online 2015 Dec 16. doi: 10.1186/s40673-015-0038-7
PMCID:
PMC4681123
3.
Cecilia Mancini, Paola Roncaglia, Alessandro Brussino, Giovanni Stevanin, Nicola Lo Buono, Helena Krmac, Francesca Maltecca, Elena Gazzano, Anna Bartoletti Stella, Maria Antonietta Calvaruso, Luisa Iommarini, Claudia Cagnoli, Sylvie Forlani, Isabelle Le Ber, Alexandra Durr, Alexis Brice, Dario Ghigo, Giorgio Casari, Anna Maria Porcelli, Ada Funaro, Giuseppe Gasparre, Stefano Gustincich, Alfredo Brusco
BMC Med Genomics. 2013; 6: 22. Published online 2013 Jun 18. doi: 10.1186/1755-8794-6-22
PMCID:
PMC3689607
4.
Ulf Edener, Janine Wöllner, Ute Hehr, Zacharias Kohl, Stefan Schilling, Friedmar Kreuz, Peter Bauer, Veronica Bernard, Gabriele Gillessen-Kaesbach, Christine Zühlke
Eur J Hum Genet. 2010 Aug; 18(8): 965–968. Published online 2010 Mar 31. doi: 10.1038/ejhg.2010.40
PMCID:
PMC2987378
5.
Xiaoyang Liu, Linlin Wang, Jiajun Chen, Chunyang Kang, Jia Li
Medicine (Baltimore) 2021 Dec 17; 100(50): e28008. Published online 2021 Dec 17. doi: 10.1097/MD.0000000000028008
PMCID:
PMC8678014
6.
Leonardo Caporali, Stefania Magri, Andrea Legati, Valentina Del Dotto, Francesca Tagliavini, Francesca Balistreri, Alessia Nasca, Chiara La Morgia, Michele Carbonelli, Maria L. Valentino, Eleonora Lamantea, Silvia Baratta, Ludger Schöls, Rebecca Schüle, Piero Barboni, Maria L. Cascavilla, Alessandra Maresca, Mariantonietta Capristo, Anna Ardissone, Davide Pareyson, Gabriella Cammarata, Lisa Melzi, Massimo Zeviani, Lorenzo Peverelli, Costanza Lamperti, Stefania B. Marzoli, Mingyan Fang, Matthis Synofzik, Daniele Ghezzi, Valerio Carelli, Franco Taroni
Ann Neurol. 2020 Jul; 88(1): 18–32. Published online 2020 Apr 21. doi: 10.1002/ana.25723
PMCID:
PMC7383914
7.
Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca
Acta Neuropathol Commun. 2020; 8: 93. Published online 2020 Jun 29. doi: 10.1186/s40478-020-00975-w
PMCID:
PMC7325028
8.
Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M. Santorelli
Ann Clin Transl Neurol. 2020 Apr; 7(4): 595–601. Published online 2020 Apr 1. doi: 10.1002/acn3.51024
PMCID:
PMC7187698
9.
Cristina Puchades, Bojian Ding, Albert Song, R. Luke Wiseman, Gabriel C. Lander, Steven E. Glynn
Mol Cell.
Published in final edited form as: Mol Cell. 2019 Sep 5; 75(5): 1073–1085.e6. Published online 2019 Jul 18. doi: 10.1016/j.molcel.2019.06.016
PMCID:
PMC6731152
10.
Sara Murru, Simon Hess, Esther Barth, Eva R. Almajan, Désirée Schatton, Steffen Hermans, Susanne Brodesser, Thomas Langer, Peter Kloppenburg, Elena I. Rugarli
Glia. 2019 Aug; 67(8): 1526–1541. Published online 2019 Apr 16. doi: 10.1002/glia.23626
PMCID:
PMC6618114
11.
Maria Patron, Hans-Georg Sprenger, Thomas Langer
Cell Res. 2018 Mar; 28(3): 296–306. Published online 2018 Feb 16. doi: 10.1038/cr.2018.17
PMCID:
PMC5835776
12.
Arun Kumar Kondadi, Shuaiyu Wang, Sara Montagner, Nikolay Kladt, Anne Korwitz, Paola Martinelli, David Herholz, Michael J Baker, Astrid C Schauss, Thomas Langer, Elena I Rugarli
EMBO J. 2014 May 2; 33(9): 1011–1026. Published online 2014 Mar 28. doi: 10.1002/embj.201387009
PMCID:
PMC4193934
13.
Eva R. Almajan, Ricarda Richter, Lars Paeger, Paola Martinelli, Esther Barth, Thorsten Decker, Nils-Göran Larsson, Peter Kloppenburg, Thomas Langer, Elena I. Rugarli
J Clin Invest. 2012 Nov 1; 122(11): 4048–4058. Published online 2012 Oct 8. doi: 10.1172/JCI64604
PMCID:
PMC3484458
14.
Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin for the NISC Comparative Sequencing Program, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro
PLoS Genet. 2011 Oct; 7(10): e1002325. Published online 2011 Oct 13. doi: 10.1371/journal.pgen.1002325
PMCID:
PMC3192828
15.
Nathaniel Robb Whaley, Shinsuke Fujioka, Zbigniew K Wszolek
Orphanet J Rare Dis. 2011; 6: 33. Published online 2011 May 28. doi: 10.1186/1750-1172-6-33
PMCID:
PMC3123548
16.
Tiziana Sacco, Enrica Boda, Eriola Hoxha, Riccardo Pizzo, Claudia Cagnoli, Alfredo Brusco, Filippo Tempia
BMC Neurosci. 2010; 11: 55. Published online 2010 Apr 28. doi: 10.1186/1471-2202-11-55
PMCID:
PMC2880309
17.
Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D’Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca
Brain. 2024 Mar; 147(3): 1043–1056. Published online 2023 Oct 7. doi: 10.1093/brain/awad340
PMCID:
PMC10907083
18.
Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee
Am J Ophthalmol Case Rep. 2023 Jun; 30: 101825. Published online 2023 Mar 8. doi: 10.1016/j.ajoc.2023.101825
PMCID:
PMC10038781
19.
Yuzhi Shi, An Wang, Bin Chen, Xingao Wang, Songtao Niu, Wei Li, Shaowu Li, Zaiqiang Zhang
Front Neurol. 2022; 13: 872927. Published online 2022 Apr 28. doi: 10.3389/fneur.2022.872927
PMCID:
PMC9097539
20.
Majida Charif, Arnaud Chevrollier, Naïg Gueguen, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal, Vasily Smirnov, Sabine Defoort-Dhellemmes, Isabelle Drumare Bouvet, Cyril Goizet, Marcela Votruba, Neringa Jurkute, Patrick Yu-Wai-Man, Francesca Tagliavini, Leonardo Caporali, Chiara La Morgia, Valerio Carelli, Vincent Procaccio, Xavier Zanlonghi, Isabelle Meunier, Pascal Reynier, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers
Neurol Genet. 2020 Jun; 6(3): e428. Published online 2020 May 20. doi: 10.1212/NXG.0000000000000428
PMCID:
PMC7251510

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