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Page 1
Neurological Involvement in a Portuguese Cohort of IgG4-Related Disease.
Moura J, Malaquias MJ, Jorge F, Pinto E, Sardoeira A, Laranjinha I, Oliveira V, Sousa AP, Damásio J, Maia L, Vila-Chã N, Samões R, Taipa R, Martins da Silva A, Santos E. Moura J, et al. Among authors: damasio j. Acta Med Port. 2024 Apr 26. doi: 10.20344/amp.20767. Online ahead of print. Acta Med Port. 2024. PMID: 38669036 Free article.
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Nogueira C, Pereira C, Silva L, Laranjeira M, Lopes A, Neiva R, Rodrigues E, Campos T, Martins E, Bandeira A, Coelho M, Magalhães M, Damásio J, Gaspar A, Janeiro P, Gomes AL, Ferreira AC, Jacinto S, Vieira JP, Diogo L, Santos H, Mendonça C, Vilarinho L. Nogueira C, et al. Among authors: damasio j. Front Cell Dev Biol. 2024 Feb 23;12:1331351. doi: 10.3389/fcell.2024.1331351. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38465286 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Imaging in FIG 4-Related Parkinsonism.
Silva L, Freixo JP, Brandão AF, Cardoso M, Damásio J. Silva L, et al. Among authors: damasio j. Mov Disord Clin Pract. 2023 Aug 16;10(10):1566-1567. doi: 10.1002/mdc3.13855. eCollection 2023 Oct. Mov Disord Clin Pract. 2023. PMID: 37868919 No abstract available.
Distinct phenotypes in a cohort of anti-CASPR2 associated neurological syndromes.
Moura J, Samões R, Cardoso M, Sousa AP, Damásio J, Marinho A, Carneiro P, Neves E, Silva AM, Santos E. Moura J, et al. Among authors: damasio j. Clin Neurol Neurosurg. 2023 Nov;234:107994. doi: 10.1016/j.clineuro.2023.107994. Epub 2023 Sep 30. Clin Neurol Neurosurg. 2023. PMID: 37797365
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
Vollstedt EJ, Madoev H, Aasly A, Ahmad-Annuar A, Al-Mubarak B, Alcalay RN, Alvarez V, Amorin I, Annesi G, Arkadir D, Bardien S, Barker RA, Barkhuizen M, Basak AN, Bonifati V, Boon A, Brighina L, Brockmann K, Carmine Belin A, Carr J, Clarimon J, Cornejo-Olivas M, Correia Guedes L, Corvol JC, Crosiers D, Damásio J, Das P, de Carvalho Aguiar P, De Rosa A, Dorszewska J, Ertan S, Ferese R, Ferreira J, Gatto E, Genç G, Giladi N, Gómez-Garre P, Hanagasi H, Hattori N, Hentati F, Hoffman-Zacharska D, Illarioshkin SN, Jankovic J, Jesús S, Kaasinen V, Kievit A, Klivenyi P, Kostic V, Koziorowski D, Kühn AA, Lang AE, Lim SY, Lin CH, Lohmann K, Markovic V, Martikainen MH, Mellick G, Merello M, Milanowski L, Mir P, Öztop-Çakmak Ö, Pimentel MMG, Pulkes T, Puschmann A, Rogaeva E, Sammler EM, Skaalum Petersen M, Skorvanek M, Spitz M, Suchowersky O, Tan AH, Termsarasab P, Thaler A, Tumas V, Valente EM, van de Warrenburg B, Williams-Gray CH, Wu RM, Zhang B, Zimprich A, Solle J, Padmanabhan S, Klein C. Vollstedt EJ, et al. Among authors: damasio j. PLoS One. 2023 Oct 3;18(10):e0292180. doi: 10.1371/journal.pone.0292180. eCollection 2023. PLoS One. 2023. PMID: 37788254 Free PMC article.
Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Malaquias MJ, Braz L, Santos Silva C, Damásio J, Jorge A, Lemos JM, Campos CF, Garcez D, Oliveira Santos M, Velon AG, Caetano A, Calejo M, Fernandes P, Rego Â, Castro S, Sousa AP, Cardoso MN, Fernandes M, Pinto MM, Taipa R, Lopes AM, Oliveira J, Magalhães M; for RFC1 Repeat Expansion National Study Group. Malaquias MJ, et al. Among authors: damasio j. Neurol Clin Pract. 2023 Oct;13(5):e200190. doi: 10.1212/CPJ.0000000000200190. Epub 2023 Sep 5. Neurol Clin Pract. 2023. PMID: 37674869
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: damasio j. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
82 results