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Page 1
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Gómez-Garre P, Jesús S, Periñán MT, Adarmes A, Alonso-Canovas A, Blanco-Ollero A, Buiza-Rueda D, Carrillo F, Catalán-Alonso MJ, Del Val J, Escamilla-Sevilla F, Espinosa-Rosso R, Fernández-Moreno MC, García-Moreno JM, García-Ruiz PJ, Giacometti-Silveira S, Gutiérrez-García J, López-Valdés E, Macías-García D, Martínez-Castrillo JC, Martínez-Torres I, Medialdea-Natera MP, Mínguez-Castellanos A, Moya MÁ, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Sillero-Sánchez M, Tejera-Parrado C, Mir P. Gómez-Garre P, et al. Among authors: adarmes a. Eur J Neurol. 2021 Apr;28(4):1188-1197. doi: 10.1111/ene.14638. Epub 2020 Dec 6. Eur J Neurol. 2021. PMID: 33175450
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Corral-Juan M, Serrano-Munuera C, Rábano A, Cota-González D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Méndez-Del-Barrio C, Jesús S, Mir P, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A. Corral-Juan M, et al. Among authors: adarmes ad. Brain. 2018 Jul 1;141(7):1981-1997. doi: 10.1093/brain/awy137. Brain. 2018. PMID: 29939198 Free article.
The impact of freezing of gait on functional dependency in Parkinson's disease with regard to motor phenotype.
Santos-García D, de Deus-Fonticoba T, Suárez Castro E, M Aneiros Díaz Á, Feal-Painceiras MJ, Paz-González JM, García-Sancho C, Jesús S, Mir P, Planellas L, García-Caldentey J, Caballol N, Legarda I, Hernández-Vara J, González-Aramburu I, Ávila-Rivera MA, Catalán MJ, Nogueira V, Álvarez-Sauco M, Vela L, Escalante S, Cubo E, Sánchez-Alonso P, Alonso-Losada MG, López-Ariztegui N, Martinez-Martin P; COPPADIS Study Group. Santos-García D, et al. Neurol Sci. 2020 Oct;41(10):2883-2892. doi: 10.1007/s10072-020-04404-7. Epub 2020 Apr 24. Neurol Sci. 2020. PMID: 32333181
Non-motor symptom burden in patients with Parkinson's disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort.
Jesús S, Labrador-Espinosa MA, Adarmes AD, Méndel-Del Barrio C, Martínez-Castrillo JC, Alonso-Cánovas A, Sánchez Alonso P, Novo-Ponte S, Alonso-Losada MG, López Ariztegui N, Segundo Rodríguez JC, Morales MI, Gastón I, Lacruz Bescos F, Clavero Ibarra P, Kulisevsky J, Pagonabarraga J, Pascual-Sedano B, Martínez-Martín P, Santos-García D, Mir P; COPPADIS Study Group. Jesús S, et al. Among authors: adarmes ad. Sci Rep. 2020 Oct 9;10(1):16893. doi: 10.1038/s41598-020-73756-z. Sci Rep. 2020. PMID: 33037247 Free PMC article.
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.
Jesús S, Hinarejos I, Carrillo F, Martínez-Rubio D, Macías-García D, Sánchez-Monteagudo A, Adarmes A, Lupo V, Pérez-Dueñas B, Mir P, Espinós C. Jesús S, et al. Among authors: adarmes a. Neurol Genet. 2021 Jan 21;7(1):e543. doi: 10.1212/NXG.0000000000000543. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33585677 Free PMC article. No abstract available.
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K, López-Laso E; Spanish Segawa Disease Research group. Fernández-Ramos JA, et al. Parkinsonism Relat Disord. 2022 Jan;94:67-78. doi: 10.1016/j.parkreldis.2021.11.014. Epub 2021 Nov 25. Parkinsonism Relat Disord. 2022. PMID: 34890878 Free article.
Cognitive impairment and dementia in young onset Parkinson's disease.
Santos-García D, de Deus Fonticoba T, Cores Bartolomé C, Feal Painceiras MJ, García Díaz I, Íñiguez Alvarado MC, Paz JM, Jesús S, Cosgaya M, García Caldentey J, Caballol N, Legarda I, Hernández Vara J, Cabo I, López Manzanares L, González Aramburu I, Ávila Rivera MA, Gómez Mayordomo V, Nogueira V, Dotor García-Soto J, Borrué C, Solano Vila B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Mendoza Z, Martínez Castrillo JC, Sánchez Alonso P, Alonso Losada MG, López Ariztegui N, Gastón I, Kulisevsky J, Seijo M, Valero C, Alonso Redondo R, Buongiorno MT, Ordás C, Menéndez-González M, McAfee D, Martinez-Martin P, Mir P; COPPADIS Study Group. Santos-García D, et al. J Neurol. 2023 Dec;270(12):5793-5812. doi: 10.1007/s00415-023-11921-w. Epub 2023 Aug 14. J Neurol. 2023. PMID: 37578489
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium; Synofzik M. Traschütz A, et al. Among authors: adarmes ad. Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021. Front Neurol. 2021. PMID: 34248822 Free PMC article. Review.
15 results