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Page 1
ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
Cazurro-Gutiérrez A, Marcé-Grau A, Correa-Vela M, Salazar A, Vanegas MI, Macaya A, Bayés À, Pérez-Dueñas B. Cazurro-Gutiérrez A, et al. Among authors: vanegas mi. Mol Neurobiol. 2021 Aug;58(8):3938-3952. doi: 10.1007/s12035-021-02391-0. Epub 2021 Apr 22. Mol Neurobiol. 2021. PMID: 33886091 Review.
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B. Vanegas MI, et al. Parkinsonism Relat Disord. 2020 Nov;80:165-174. doi: 10.1016/j.parkreldis.2020.09.023. Epub 2020 Sep 21. Parkinsonism Relat Disord. 2020. PMID: 33022436
Early recognition of SGCE-myoclonus-dystonia in children.
Correa-Vela M, Carvalho J, Ferrero-Turrion J, Cazurro-Gutiérrez A, Vanegas M, Gonzalez V, Alvárez R, Marcé-Grau A, Moreno A, Macaya-Ruiz A, Pérez-Dueñas B. Correa-Vela M, et al. Dev Med Child Neurol. 2023 Feb;65(2):207-214. doi: 10.1111/dmcn.15298. Epub 2022 Jun 20. Dev Med Child Neurol. 2023. PMID: 35723607 Free article.
Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.
Candela S, Vanegas MI, Darling A, Ortigoza-Escobar JD, Alamar M, Muchart J, Climent A, Ferrer E, Rumià J, Pérez-Dueñas B. Candela S, et al. Among authors: vanegas mi. J Neurosurg Pediatr. 2018 Oct;22(4):416-425. doi: 10.3171/2018.5.PEDS1814. Epub 2018 Jul 20. J Neurosurg Pediatr. 2018. PMID: 30028274 Clinical Trial.
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: vanegas mi. 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.
Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.
Vanegas MI, Marcé-Grau A, Cazurro-Gutiérrez A, Hamami F, Timmers ER, Weißbach A, Tijssen MAJ, González V, Miguel LD, Martin M, Benson M, Reinhard C, Pérez-Dueñas B. Vanegas MI, et al. Mov Disord Clin Pract. 2025 Mar 15. doi: 10.1002/mdc3.70028. Online ahead of print. Mov Disord Clin Pract. 2025. PMID: 40088059
Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study.
Mistry AM, Saldanha G, Bersselaar LRVD, Knock GA, Goldberg MF, Vanegas MI, Fernandez-Garcia MA, Treves S, Voermans NC, Tribe RM, Jungbluth H. Mistry AM, et al. Among authors: vanegas mi. Neuromuscul Disord. 2025 Apr;49:105335. doi: 10.1016/j.nmd.2025.105335. Epub 2025 Feb 22. Neuromuscul Disord. 2025. PMID: 40020543 Free article.
17 results