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Items: 10

1.
Yu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, Jun-Hui Yuan, Masahiro Ando, Yujiro Higuchi, Akihiro Hashiguchi, Eiji Matsuura, Fumihito Nozaki, Tomohiro Kumada, Kei Murayama, Mikiya Suzuki, Yuki Yamamoto, Naoko Matsui, Yoshimichi Miyazaki, Masamitsu Yamaguchi, Youji Suzuki, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroshi Takashima
J Neurol. 2022; 269(8): 4129–4140. Published online 2022 Mar 2. doi: 10.1007/s00415-022-11026-w
PMCID:
PMC9293870
2.
Reem A. Alkhater, Saija Ahonen, Berge A. Minassian
Ann Clin Transl Neurol. 2021 Jan; 8(1): 252–258. Published online 2020 Nov 24. doi: 10.1002/acn3.51247
PMCID:
PMC7818133
3.
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
4.
Caterina Garone, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, Sindu Krishna, Ali Naini, Catarina M Quinzii, Michio Hirano
J Child Neurol.
Published in final edited form as: J Child Neurol. 2017 Feb; 32(2): 246–250. Published online 2016 Sep 28. doi: 10.1177/0883073816666221
PMCID:
PMC6815879
5.
Mike Linney, Richard D W Hain, Dominic Wilkinson, Peter-Marc Fortune, Sarah Barclay, Vic Larcher, Jacqueline Fitzgerald, Emily Arkell
Arch Dis Child. 2019 May; 104(5): 413–416. Published online 2019 Apr 18. doi: 10.1136/archdischild-2018-316485
PMCID:
PMC6557224
6.
Xiaoping Huang, Jirair K. Bedoyan, Didem Demirbas, David J. Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D. DeBrosse, Lee-Jun Wong, Charles L. Hoppel, Douglas S. Kerr, Irina Anselm, Gerard T. Berry
Mol Genet Metab.
Published in final edited form as: Mol Genet Metab. 2017 Mar; 120(3): 213–222. Published online 2016 Nov 12. doi: 10.1016/j.ymgme.2016.11.005
PMCID:
PMC5346465
7.
Roeltje R. Maas, Adela Della Marina, Arjan P. M. de Brouwer, Ron A. Wevers, Richard J Rodenburg, Saskia B. Wortmann
JIMD Rep. 2016; 27: 27–32. Published online 2015 Sep 27. doi: 10.1007/8904_2015_464
PMCID:
PMC4864773
8.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
9.
Sanna Matilainen, Pirjo Isohanni, Liliya Euro, Tuula Lönnqvist, Helena Pihko, Tero Kivelä, Sakari Knuutila, Anu Suomalainen
Eur J Hum Genet. 2015 Mar; 23(3): 325–330. Published online 2014 Jul 2. doi: 10.1038/ejhg.2014.128
PMCID:
PMC4326715
10.
Ayman W. El-Hattab, Fernando Scaglia
Neurotherapeutics. 2013 Apr; 10(2): 186–198. Published online 2013 Feb 6. doi: 10.1007/s13311-013-0177-6
PMCID:
PMC3625391

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