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Year Number of Results
2012 2
2013 1
2014 5
2015 1
2016 4
2017 3
2018 5
2019 2
2021 1
2022 1
2024 0

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23 results

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Page 1
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. Neilson DE, et al. Mov Disord. 2022 Feb;37(2):375-383. doi: 10.1002/mds.28821. Epub 2021 Oct 11. Mov Disord. 2022. PMID: 34636445 Free PMC article.
Long-term safety and efficacy of deutetrabenazine for the treatment of tardive dyskinesia.
Fernandez HH, Stamler D, Davis MD, Factor SA, Hauser RA, Jimenez-Shahed J, Ondo WG, Jarskog LF, Woods SW, Bega D, LeDoux MS, Shprecher DR, Anderson KE. Fernandez HH, et al. J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1317-1323. doi: 10.1136/jnnp-2018-319918. Epub 2019 Jul 10. J Neurol Neurosurg Psychiatry. 2019. PMID: 31296586 Free PMC article. Clinical Trial.
Predictors of alcohol responsiveness in dystonia.
Junker J, Brandt V, Berman BD, Vidailhet M, Roze E, Weissbach A, Comella C, Malaty IA, Jankovic J, LeDoux MS, Berardelli A, Barbano R, Reich SG, Perlmutter JS, Jinnah HA, Brüggemann N. Junker J, et al. Neurology. 2018 Nov 20;91(21):e2020-e2026. doi: 10.1212/WNL.0000000000006551. Epub 2018 Oct 19. Neurology. 2018. PMID: 30341158 Free PMC article.
Whole-exome sequencing for variant discovery in blepharospasm.
Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS. Tian J, et al. Mol Genet Genomic Med. 2018 May 16;6(4):601-26. doi: 10.1002/mgg3.411. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29770609 Free PMC article.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Hum Mol Genet. 2018. PMID: 29300972 Free PMC article.
23 results