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204 results

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Page 1
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA. Pérez-Dueñas B, et al. Among authors: macaya a. Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25. Mov Disord. 2022. PMID: 36054588 Free PMC article.
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.
Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero-Luis M, Batllori M, Vanegas MI, Muchart J, Aquino L, Artuch R, Macaya A, Kurian MA, Dueñas P. Marti-Sanchez L, et al. Among authors: macaya a. Orphanet J Rare Dis. 2018 Jan 30;13(1):28. doi: 10.1186/s13023-018-0758-x. Orphanet J Rare Dis. 2018. PMID: 29382362 Free PMC article.
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H. Salpietro V, et al. Among authors: macaya a. Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2. Mov Disord. 2018. PMID: 29392776 Free PMC article.
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.
Marcé-Grau A, Correa M, Vanegas MI, Muñoz-Ruiz T, Ferrer-Aparicio S, Baide H, Macaya A, Pérez-Dueñas B. Marcé-Grau A, et al. Among authors: macaya a. Parkinsonism Relat Disord. 2019 Apr;61:7-9. doi: 10.1016/j.parkreldis.2019.01.004. Epub 2019 Jan 8. Parkinsonism Relat Disord. 2019. PMID: 30642807 No abstract available.
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.
Zouvelou V, Yubero D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Perez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Santorelli FM, Artuch R, Pons R. Zouvelou V, et al. Among authors: macaya a. Eur J Paediatr Neurol. 2019 May;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. Epub 2019 Feb 14. Eur J Paediatr Neurol. 2019. PMID: 30799092
204 results