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Items: 1 to 20 of 107

1.
Yuki Miyamoto, Tomohiro Torii, Kazuko Kawahara, Nanami Hasegawa, Akito Tanoue, Yoichi Seki, Takako Morimoto, Megumi Funakoshi-Tago, Hiroomi Tamura, Keiichi Homma, Masahiro Yamamoto, Junji Yamauchi
Data Brief. 2017 Apr; 11: 284–289. Published online 2017 Feb 16. doi: 10.1016/j.dib.2017.02.024
PMCID:
PMC5328720
2.
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
3.
Carlos Ferreira, Andrea Poretti, Julie Cohen, Ada Hamosh, Sakkubai Naidu
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2014 Jul; 164A(7): 1802–1807. Published online 2014 Apr 4. doi: 10.1002/ajmg.a.36526
PMCID:
PMC10506160
4.
Milvia Alata, Valeria Piazza, Carla Jaramillo-Restrepo, Jose R. Eguibar, Carmen Cortes, Victor H. Hernandez
Sci Rep. 2022; 12: 14417. Published online 2022 Aug 24. doi: 10.1038/s41598-022-18370-x
PMCID:
PMC9402540
5.
Victor Krajka, Franca Vulinovic, Mariya Genova, Kerstin Tanzer, A. S. Jijumon, Satish Bodakuntla, Stephanie Tennstedt, Helge Mueller-Fielitz, Britta Meier, Carsten Janke, Christine Klein, Aleksandar Rakovic
Sci Adv. 2022 Mar; 8(10): eabj9229. Published online 2022 Mar 11. doi: 10.1126/sciadv.abj9229
PMCID:
PMC8916731
6.
Milvia Alata, Arturo González-Vega, Valeria Piazza, Anke Kleinert-Altamirano, Carmen Cortes, Juan C. Ahumada-Juárez, Jose R. Eguibar, Alejandra López-Juárez, Victor H. Hernandez
Front Neurol. 2021; 12: 702039. Published online 2021 Jul 14. doi: 10.3389/fneur.2021.702039
PMCID:
PMC8317997
7.
Adrian J. Giovannone, Elena Reales, Pallavi Bhattaram, Sirpi Nackeeran, Adam B. Monahan, Rashid Syed, Thomas Weimbs
Sci Rep. 2020; 10: 21350. Published online 2020 Dec 7. doi: 10.1038/s41598-020-78412-0
PMCID:
PMC7721868
8.
Angeles Garduno-Robles, Milvia Alata, Valeria Piazza, Carmen Cortes, Jose R. Eguibar, Sergio Pantano, Victor H. Hernandez
Front Neurosci. 2020; 14: 555. Published online 2020 Jun 3. doi: 10.3389/fnins.2020.00555
PMCID:
PMC7284052
9.
Eline M.C. Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Judy Liu, Adeline Vanderver, Julian Curiel, Claudia M. Persoon, Daria Diodato, Lorenzo Pinelli, Nathalie L. van der Meij, Barbara Plecko, Susan Blaser, Nicole I. Wolf, Quinten Waisfisz, Truus E.M. Abbink, Marjo S. van der Knaap, On behalf of the Recessive H-ABC Research Group
Neurology. 2017 Oct 24; 89(17): 1821–1828. doi: 10.1212/WNL.0000000000004578
PMCID:
PMC5664304
10.
Anna Lürick, Anne Kuhlee, Cornelia Bröcker, Daniel Kümmel, Stefan Raunser, Christian Ungermann
J Biol Chem. 2015 Feb 27; 290(9): 5405–5413. Published online 2015 Jan 7. doi: 10.1074/jbc.M114.631465
PMCID:
PMC4342457
11.
Patrick O Monahan, Catherine A Alder, Babar A Khan, Timothy Stump, Malaz A Boustani
Clin Interv Aging. 2014; 9: 2123–2132. Published online 2014 Dec 5. doi: 10.2147/CIA.S64140
PMCID:
PMC4264599
12.
Peng Zhou, Zhiping P Pang, Xiaofei Yang, Yingsha Zhang, Christian Rosenmund, Taulant Bacaj, Thomas C Südhof
EMBO J. 2013 Jan 9; 32(1): 159–171. Published online 2012 Nov 27. doi: 10.1038/emboj.2012.307
PMCID:
PMC3545302
13.
Patrick O Monahan, Malaz A Boustani, Catherine Alder, James E Galvin, Anthony J Perkins, Patrick Healey, Azita Chehresa, Polly Shepard, Corby Bubp, Amie Frame, Chris Callahan
Clin Interv Aging. 2012; 7: 143–157. Published online 2012 Jun 14. doi: 10.2147/CIA.S30663
PMCID:
PMC3393358
14.
Andreas Bracher, Winfried Weissenhorn
BMC Struct Biol. 2004; 4: 6. Published online 2004 Mar 15. doi: 10.1186/1472-6807-4-6
PMCID:
PMC415556
15.
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard
J Med Genet. 2023 Oct; 60(10): 1026–1034. Published online 2023 May 16. doi: 10.1136/jmg-2023-109223
PMCID:
PMC10579516
16.
Chujun Wu, Mengwen Wang, Xingao Wang, Wei Li, Shaowu Li, Bin Chen, Songtao Niu, Hongfei Tai, Hua Pan, Zaiqiang Zhang
Brain. 2023 Jun; 146(6): 2364–2376. Published online 2022 Nov 16. doi: 10.1093/brain/awac426
PMCID:
PMC10232248
17.
Dongxue Mao, Chloe M. Reuter, Maura R.Z. Ruzhnikov, Anita E. Beck, Emily G. Farrow, Lisa T. Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz-Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary K. Koenig, Madeline Graf, Alyssa Tran, Mercedes Alejandro, Undiagnosed Diseases Network, Brendan H. Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao-Tuan Chao
Am J Hum Genet. 2020 Apr 2; 106(4): 570–583. Published online 2020 Mar 19. doi: 10.1016/j.ajhg.2020.02.016
PMCID:
PMC7118694
18.
Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, Annette Bley, Maja Hempel, Tatjana Bierhals, Stephanie Karch, Ute Moog, Geneviève Bernard, Richard Huntsman, Rosalina M. L. van Spaendonk, Maaike Vreeburg, Agustí Rodríguez-Palmero, Aurora Pujol, Marjo S. van der Knaap, Petra J. W. Pouwels, Nicole I. Wolf
Neurogenetics. 2020; 21(2): 121–133. Published online 2020 Jan 15. doi: 10.1007/s10048-019-00602-4
PMCID:
PMC7064625
19.
Noriko Miyake, Nicole I. Wolf, Ferdy K. Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver
Neurogenetics. 2017; 18(4): 185–194. Published online 2017 Aug 26. doi: 10.1007/s10048-017-0520-x
PMCID:
PMC5705759
20.
Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik Sistermans, Coriene Catsman-Berrevoets, Johan M. Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S. van der Knaap, Geneviève Bernard
Neurology. 2014 Nov 18; 83(21): 1898–1905. doi: 10.1212/WNL.0000000000001002
PMCID:
PMC4248461

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