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Items: 1 to 20 of 22

1.
Marco Savarese, Jaakko Sarparanta, Anna Vihola, Bjarne Udd, Peter Hackman
J Neuromuscul Dis. 2016; 3(3): 293–308. Prepublished online 2016 Aug 22. Published online 2016 Aug 30. doi: 10.3233/JND-160158
PMCID:
PMC5123623
2.
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin
J Med Genet. 2023 Jan; 60(1): 65–73. Published online 2021 Dec 6. doi: 10.1136/jmedgenet-2021-108006
PMCID:
PMC9811091
3.
Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno
Ital J Pediatr. 2022; 48: 180. Published online 2022 Oct 17. doi: 10.1186/s13052-022-01370-y
PMCID:
PMC9575244
4.
Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr
Orphanet J Rare Dis. 2022; 17: 279. Published online 2022 Jul 19. doi: 10.1186/s13023-022-02421-7
PMCID:
PMC9295345
5.
Naif Saad ALGhasab, Bandar Alshehri, Leen Abdullah Altamimi, Raghad Asaad Assiri, Loujain Ahmad AlYousef, Sulaman ALMesned, Fayez Saud ALreshidi, Suleiman M. Kharabsheh, Sara Abou Al-Saud, Waleed Alharbi
Medicine (Baltimore) 2021 Jul 30; 100(30): e26687. Published online 2021 Jul 30. doi: 10.1097/MD.0000000000026687
PMCID:
PMC8322495
6.
Sarka Jelinkova, Yvonne Sleiman, Petr Fojtík, Franck Aimond, Amanda Finan, Gerald Hugon, Valerie Scheuermann, Deborah Beckerová, Olivier Cazorla, Marie Vincenti, Pascal Amedro, Sylvain Richard, Josef Jaros, Petr Dvorak, Alain Lacampagne, Gilles Carnac, Vladimir Rotrekl, Albano C. Meli
Int J Mol Sci. 2021 May; 22(9): 5025. Published online 2021 May 10. doi: 10.3390/ijms22095025
PMCID:
PMC8125982
7.
Farzad Fatehi, Ali Asghar Okhovat, Yalda Nilipour, Magdalena Mroczek, Volker Straub, Ana Töpf, Aleksa Palibrk, Stojan Peric, Vidosava Rakocevic Stojanovic, Hossein Najmabadi, Shahriar Nafissi
Eur J Neurol.
Published in final edited form as: Eur J Neurol. 2020 Nov; 27(11): 2257–2266. Published online 2020 Jul 24. doi: 10.1111/ene.14402
PMCID:
PMC8006598
8.
Francesca Magri, Roberta Brusa, Luca Bello, Lorenzo Peverelli, Roberto Del Bo, Alessandra Govoni, Claudia Cinnante, Irene Colombo, Francesco Fortunato, Roberto Tironi, Stefania Corti, Nadia Grimoldi, Monica Sciacco, Nereo Bresolin, Elena Pegoraro, Maurizio Moggio, Giacomo Pietro Comi
Acta Myol. 2020 Jun; 39(2): 67–82. Published online 2020 Jun 1. doi: 10.36185/2532-1900-009
PMCID:
PMC7460730
9.
Haley Streff, Weimin Bi, Christina Y. Miyake, Athos G. Colón, Adekunle M. Adesina, Seema R. Lalani
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2019 Nov; 62(11): 103567. Published online 2018 Nov 3. doi: 10.1016/j.ejmg.2018.11.001
PMCID:
PMC7237049
10.
Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller, Ute Spiekerkoetter
Orphanet J Rare Dis. 2020; 15: 87. Published online 2020 Apr 10. doi: 10.1186/s13023-020-01371-2
PMCID:
PMC7146900
11.
Rocío N Villar-Quiles, Fabio Catervi, Eva Cabet, Raul Juntas-Morales, Casie A. Genetti, Teresa Gidaro, Asuman Koparir, Adnan Yüksel, Sandra Coppens, Nicolas Deconinck, Emma Pierce-Hoffman, Xavière Lornage, Julien Durigneux, Jocelyn Laporte, John Rendu, Norma B. Romero, Alan H. Beggs, Laurent Servais, Mireille Cossée, Montse Olivé, Johann Böhm, Isabelle Duband-Goulet, Ana Ferreiro
Ann Neurol.
Published in final edited form as: Ann Neurol. 2020 Feb; 87(2): 217–232. Published online 2019 Dec 27. doi: 10.1002/ana.25660
PMCID:
PMC6980348
12.
Margaret A. Gustafson, Elizabeth M. McCormick, Lalith Perera, Matthew J. Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C. Goldstein, Shana E. McCormack, Benjamin L. Laskin, Bart P. Leroy, Xilma R. Ortiz-Gonzalez, Meredith G. Ellington, William C. Copeland, Marni J. Falk
PLoS One. 2019; 14(9): e0221829. Published online 2019 Sep 3. doi: 10.1371/journal.pone.0221829
PMCID:
PMC6719858
13.
Minttu Marttila, Wathone Win, Fouad Al-Ghamdi, Hoda Z. Abdel-Hamid, David Lacomis, Alan H. Beggs
Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004184. doi: 10.1101/mcs.a004184
PMCID:
PMC6672024
14.
Ricardo A. Maselli, Juan Arredondo, Jessica Vázquez, Jessica X. Chong, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Marian Lara, Fiona Ng, Victoria L. Lo, Peter Pytel, Craig M. McDonald
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2017 Aug; 173(8): 2240–2245. Published online 2017 May 25. doi: 10.1002/ajmg.a.38291
PMCID:
PMC5541137
15.
Susan Byrne, Carlo Dionisi-Vici, Luke Smith, Mathias Gautel, Heinz Jungbluth
Orphanet J Rare Dis. 2016; 11: 21. Published online 2016 Feb 29. doi: 10.1186/s13023-016-0399-x
PMCID:
PMC4772338
16.
Nigel F. Clarke, Kimberly Amburgey, James Teener, Sandra Camelo-Piragua, Akanchha Kesari, Jaya Punetha, Leigh B. Waddell, Mark Davis, Nigel G. Laing, Nicole Monnier, Kathryn N. North, Eric P. Hoffman, James J. Dowling
Neuromuscul Disord.
Published in final edited form as: Neuromuscul Disord. 2013 May; 23(5): 432–436. Published online 2013 Mar 9. doi: 10.1016/j.nmd.2013.02.009
PMCID:
PMC4103162
17.
M. Pane, S. Messina, G. Vasco, A.R. Foley, L. Morandi, E. Pegoraro, T. Mongini, A. D’Amico, F. Bianco, M.E. Lombardo, R. Scalise, C. Bruno, A. Berardinelli, A. Pini, I. Moroni, M. Mora, A. Toscano, M. Moggio, G. Comi, F.M. Santorelli, E. Bertini, F. Muntoni, E. Mercuri
Neuromuscul Disord. 2012 Aug; 22(8): 685–689. doi: 10.1016/j.nmd.2012.05.006
PMCID:
PMC3476532
18.
S B Bleyl, B R Mumford, V Thompson, J C Carey, T J Pysher, T K Chin, K Ward
Am J Hum Genet. 1997 Oct; 61(4): 868–872. doi: 10.1086/514879
PMCID:
PMC1715997
19.
P A Bolhuis, G W Hensels, T J Hulsebos, F Baas, P G Barth
Am J Hum Genet. 1991 Mar; 48(3): 481–485.
PMCID:
PMC1682968
20.
A K Gedeon, M J Wilson, A C Colley, D O Sillence, J C Mulley
J Med Genet. 1995 May; 32(5): 383–388. doi: 10.1136/jmg.32.5.383
PMCID:
PMC1050435

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