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Items: 1 to 20 of 29

1.
Jianbo Wu, Samuel D. Hunt, Nadine Matthias, Emilia Servián-Morilla, Jonathan Lo, Hamed Jafar-Nejad, Carmen Paradas, Radbod Darabi
Stem Cell Res.
Published in final edited form as: Stem Cell Res. 2017 Oct; 24: 102–105. Published online 2017 Sep 1. doi: 10.1016/j.scr.2017.08.020
PMCID:
PMC5679726
2.
Ivana F. Audhya, Antoinette Cheung, Shelagh M. Szabo, Emma Flint, Conrad C. Weihl, Katherine L. Gooch
J Neuromuscul Dis. 2022; 9(4): 477–492. Prepublished online 2022 May 4. Published online 2022 Jul 1. doi: 10.3233/JND-210771
PMCID:
PMC9398075
3.
Michelle A. Johnson, Jacob A. Klickstein, Richa Khanna, Yunzi Gou, Cure VCP Disease Research Consortium, Malavika Raman
Neurobiol Dis.
Published in final edited form as: Neurobiol Dis. 2022 Jul; 169: 105722. Published online 2022 Apr 8. doi: 10.1016/j.nbd.2022.105722
PMCID:
PMC9169230
4.
Jorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J Vílchez, Mario Emilio Dourado, Naz Kadem, Gultekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O Crawford, Xavier Suárez-Calvet, Ana Töpf, Michela Guglieri, Chiara Marini-Bettolo, Pia Gallano, Volker Straub, Jordi Díaz-Manera
Brain. 2022 Feb; 145(2): 596–606. Published online 2021 Sep 13. doi: 10.1093/brain/awab301
PMCID:
PMC9014751
5.
Girija Thiruvengadam, Sen Chandra Sreetama, Karine Charton, Marshall Hogarth, James S. Novak, Laurence Suel-Petat, Goutam Chandra, Bruno Allard, Isabelle Richard, Jyoti K. Jaiswal
J Neuromuscul Dis. 2021; 8(Suppl 2): S243–S255. Prepublished online 2021 Oct 5. Published online 2021 Nov 30. doi: 10.3233/JND-210720
PMCID:
PMC8673513
6.
Xiao-Jing Wei, Jing Miao, Zhi-Xia Kang, Yan-Lu Gao, Zi-Yi Wang, Xue-Fan Yu
Bosn J Basic Med Sci. 2021 Aug; 21(4): 495–500. doi: 10.17305/bjbms.2020.5288
PMCID:
PMC8292861
7.
Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong
Orphanet J Rare Dis. 2021; 16: 319. Published online 2021 Jul 19. doi: 10.1186/s13023-021-01950-x
PMCID:
PMC8287797
8.
Cheng Zhang, Xueping Zheng, Deguo Lu, Lulu Xu, Fengyuan Che, Shiguo Liu
Mol Med Rep. 2021 Jun; 23(6): 480. Published online 2021 Apr 23. doi: 10.3892/mmr.2021.12119
PMCID:
PMC8097764
9.
Silvio Quick, Max Winkler, Uwe Speiser, Karim Ibrahim, Jochen Schäfer, Axel Linke, Kun Zhang, Marian Christoph, Felix M. Heidrich
Orphanet J Rare Dis. 2021; 16: 194. Published online 2021 Apr 30. doi: 10.1186/s13023-021-01826-0
PMCID:
PMC8086059
10.
James G. Tidball, Steven S. Welc, Michelle Wehling-Henricks
Compr Physiol.
Published in final edited form as: Compr Physiol. 2018 Sep 14; 8(4): 1313–1356. Published online 2018 Sep 14. doi: 10.1002/cphy.c170052
PMCID:
PMC7769418
11.
E. Servián-Morilla, M. Cabrera-Serrano, K. Johnson, A. Pandey, A. Ito, E. Rivas, T. Chamova, N. Muelas, T. Mongini, S. Nafissi, K.G. Claeys, R.P. Grewal, M. Takeuchi, H. Hao, C. Bönnemann, O.A. Neto, L. Medne, J. Brandsema, A. Topf, A. Taneva, J.J. Vilchez, I. Tournev, R.S. Haltiwanger, H. Takeuchi, H. Jafar-Nejad, V. Straub, C. Paradas
Acta Neuropathol.
Published in final edited form as: Acta Neuropathol. 2020 Mar; 139(3): 565–582. Published online 2020 Jan 3. doi: 10.1007/s00401-019-02117-6
PMCID:
PMC7196238
12.
Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali
BMC Med Genet. 2020; 21: 77. Published online 2020 Apr 15. doi: 10.1186/s12881-020-01016-y
PMCID:
PMC7158096
13.
STOJAN PERIC, JELENA STEVANOVIC, KATHERINE JOHNSON, ANA KOSAC, MARINA PERIC, MARIJA BRANKOVIC, ANA MARJANOVIC, MILENA JANKOVIC, BOJAN BANKO, SANJA MILENKOVIC, MILICA DURDIC, IVO BOZOVIC, JELENA NIKODINOVIC GLUMAC, DRAGANA LAVRNIC, RUZICA MAKSIMOVIC, VEDRANA MILIC-RASIC, VIDOSAVA RAKOCEVIC-STOJANOVIC
Acta Myol. 2019 Sep; 38(3): 163–171. Published online 2019 Sep 1.
PMCID:
PMC6859413
14.
Chuan Xu, Jiajun Chen, Yingyu Zhang, Jia Li
Medicine (Baltimore) 2018 May; 97(21): e10539. Published online 2018 May 25. doi: 10.1097/MD.0000000000010539
PMCID:
PMC6392577
15.
Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng
J Cell Mol Med. 2017 Jul; 21(7): 1388–1393. Published online 2017 Feb 3. doi: 10.1111/jcmm.13068
PMCID:
PMC5487925
16.
Angela K. Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L. Wang, Jim Heighway, Ramón M. Coral-Vázquez, Julio Vergara, Rachelle H. Crosbie-Watson
Skelet Muscle. 2017; 7: 11. Published online 2017 Jun 6. doi: 10.1186/s13395-017-0127-9
PMCID:
PMC5461684
17.
Emilia Servián‐Morilla, Hideyuki Takeuchi, Tom V Lee, Jordi Clarimon, Fabiola Mavillard, Estela Area‐Gómez, Eloy Rivas, Jose L Nieto‐González, Maria C Rivero, Macarena Cabrera‐Serrano, Leonardo Gómez‐Sánchez, Jose A Martínez‐López, Beatriz Estrada, Celedonio Márquez, Yolanda Morgado, Xavier Suárez‐Calvet, Guillermo Pita, Anne Bigot, Eduard Gallardo, Rafael Fernández‐Chacón, Michio Hirano, Robert S Haltiwanger, Hamed Jafar‐Nejad, Carmen Paradas
EMBO Mol Med. 2016 Nov; 8(11): 1289–1309. Published online 2016 Oct 10. doi: 10.15252/emmm.201505815
PMCID:
PMC5090660
18.
Changcheng Song, Qing Wang, Changzheng Song, Stephen J. Lockett, Nancy H. Colburn, Chou-Chi H. Li, Ji Ming Wang, Thomas J. Rogers
Biochim Biophys Acta.
Published in final edited form as: Biochim Biophys Acta. 2015 Jan; 1853(1): 222–232. Published online 2014 Oct 30. doi: 10.1016/j.bbamcr.2014.10.019
PMCID:
PMC4254625
19.
Hugo R Martinez, William J Craigen, Monika Ummat, Adekunle M Adesina, Timothy E Lotze, John L Jefferies
Eur J Hum Genet. 2014 Apr; 22(4): 486–491. Published online 2013 Sep 4. doi: 10.1038/ejhg.2013.165
PMCID:
PMC3953896
20.
Hong Joo Kim, Nam Chul Kim, Yong-Dong Wang, Emily A. Scarborough, Jennifer Moore, Zamia Diaz, Kyle S. MacLea, Brian Freibaum, Songqing Li, Amandine Molliex, Anderson P. Kanagaraj, Robert Carter, Kevin B. Boylan, Aleksandra M. Wojtas, Rosa Rademakers, Jack L. Pinkus, Steven A. Greenberg, John Q. Trojanowski, Bryan J. Traynor, Bradley N. Smith, Simon Topp, Athina-Soragia Gkazi, Jack Miller, Christopher E. Shaw, Michael Kottlors, Janbernd Kirschner, Alan Pestronk, Yun R. Li, Alice Flynn Ford, Aaron D. Gitler, Michael Benatar, Oliver D. King, Virginia E. Kimonis, Eric D. Ross, Conrad C. Weihl, James Shorter, J. Paul Taylor
Nature.
Published in final edited form as: Nature. 2013 Mar 28; 495(7442): 467–473. Published online 2013 Mar 3. doi: 10.1038/nature11922
PMCID:
PMC3756911

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