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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: sousa ap. Neurol Clin Pract. 2023 Oct;13(5):e200190. doi: 10.1212/CPJ.0000000000200190. Epub 2023 Sep 5. Neurol Clin Pract. 2023. PMID: 37674869 Free PMC article.
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Oliveira J, et al. Among authors: sousa m, sousa ap. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.
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: sousa ap. Acta Med Port. 2024 Jun 3;37(6):429-435. doi: 10.20344/amp.20767. Epub 2024 Apr 26. Acta Med Port. 2024. PMID: 38669036 Free article.
Brain MRI in patients with V30M hereditary transthyretin amyloidosis.
Sousa L, Pinto C, Azevedo A, Igreja L, Marta A, Fernandes J, Oliveira P, Cardoso M, Alves C, Silva AMD, Mendonça Pinto M, Sousa AP, Coelho T, Taipa R. Sousa L, et al. Among authors: sousa ap. Amyloid. 2024 Aug 17:1-6. doi: 10.1080/13506129.2024.2391842. Online ahead of print. Amyloid. 2024. PMID: 39153196
151 results