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Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
Benzoni C, Moscatelli M, Farina L, Magri S, Ciano C, Scaioli V, Alverà S, Cammarata G, Bianchi-Marzoli S, Castellani M, Zito FM, Marotta G, Piacentini S, Villacara A, Mantegazza R, Gellera C, Durães J, Gouveia A, Matos A, do Carmo Macário M, Pareyson D, Taroni F, Di Bella D, Salsano E. Benzoni C, et al. Among authors: duraes j. J Neurol. 2023 Sep;270(9):4219-4234. doi: 10.1007/s00415-023-11762-7. Epub 2023 May 12. J Neurol. 2023. PMID: 37171481
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Bacalhau M, Simões M, Rocha MC, Hardy SA, Vincent AE, Durães J, Macário MC, Santos MJ, Rebelo O, Lopes C, Pratas J, Mendes C, Zuzarte M, Rego AC, Girão H, Wong LC, Taylor RW, Grazina M. Bacalhau M, et al. Among authors: duraes j. Neuromuscul Disord. 2018 Apr;28(4):350-360. doi: 10.1016/j.nmd.2017.11.006. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29398297 Free PMC article.
Late onset neuromyelitis optica spectrum disorders (LONMOSD) from a nationwide Portuguese study: Anti-AQP4 positive, anti-MOG positive and seronegative subgroups.
Santos E, Moura J, Samões R, Sousa AP, Mendonça T, Abreu P, Guimarães J, Correia I, Durães J, Sousa L, Ferreira J, de Sá J, Sousa F, Sequeira M, Correia AS, André AL, Basílio C, Arenga M, Marques IB, Perdigão S, Alves I, Santos M, Salgado V, Palos A, Guerreiro R, Isidoro L, Boleixa D, Carneiro P, Neves E, Silva AM, Gonçalves G, Sá MJ. Santos E, et al. Among authors: duraes j. Mult Scler Relat Disord. 2022 Jul;63:103845. doi: 10.1016/j.msard.2022.103845. Epub 2022 May 4. Mult Scler Relat Disord. 2022. PMID: 35594635
Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epidemiological study.
Santos E, Rocha AL, Oliveira V, Ferro D, Samões R, Sousa AP, Figueiroa S, Mendonça T, Abreu P, Guimarães J, Sousa R, Melo C, Correia I, Durães J, Sousa L, Ferreira J, de Sá J, Sousa F, Sequeira M, Correia AS, André AL, Basílio C, Arenga M, Mendes I, Marques IB, Perdigão S, Felgueiras H, Alves I, Correia F, Barroso C, Morganho A, Carmona C, Palavra F, Santos M, Salgado V, Palos A, Nzwalo H, Timóteo A, Guerreiro R, Isidoro L, Boleixa D, Carneiro P, Neves E, Silva AM, Gonçalves G, Leite MI, Sá MJ. Santos E, et al. Among authors: duraes j. Mult Scler Relat Disord. 2021 Nov;56:103258. doi: 10.1016/j.msard.2021.103258. Epub 2021 Sep 8. Mult Scler Relat Disord. 2021. PMID: 34583213
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study.
Pérez-Millan A, Borrego-Écija S, van Swieten JC, Jiskoot L, Moreno F, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Tiraboschi P, Seelaar H, Langheinrich T, Rohrer JD, Sala-Llonch R, Sánchez-Valle R; Genetic FTD Initiative, GENFI. Pérez-Millan A, et al. J Neurol. 2023 Mar;270(3):1573-1586. doi: 10.1007/s00415-022-11435-x. Epub 2022 Nov 29. J Neurol. 2023. PMID: 36443488 Free article.
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.
Cousyn L, Law-Ye B, Pyatigorskaya N, Debs R, Froissart R, Piraud M, Federico A, Salvatore S, Cerase A, Macário MC, Durães J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, Laule C, Nakamagoe K, Raininko R, Schols L, Sirrs SM, Viader F, Jastrzębski K, Leclercq D, Nadjar Y. Cousyn L, et al. Among authors: duraes j. Neurology. 2019 Aug 13;93(7):e647-e652. doi: 10.1212/WNL.0000000000007943. Epub 2019 Jul 23. Neurology. 2019. PMID: 31337714
61 results