Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy
Pinto, W.B.V.R., Souza, P.V.S., Farias, I.B., Badia, B.M.L., Chieia, M.A.T., Oliveira, A.S.B.
Published in Revue neurologique (01.11.2022)
Published in Revue neurologique (01.11.2022)
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Journal Article
Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing
Souza, P.V.S., Bortholin, Thiago, Teixeira, Carlos Alberto Castro, Seneor, Daniel Delgado, Marin, Vitor Dias Gomes Barrios, Dias, Renan Braido, Farias, Igor Braga, Badia, B.M.L., Silva, Luiz Henrique Libardi, Pinto, W.B.V.R., Oliveira, Acary Souza Bulle, DiMauro, Salvatore
Published in Mitochondrion (01.11.2019)
Published in Mitochondrion (01.11.2019)
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Journal Article
SPG76: An extremely rare hereditary spastic paraplegia with a new expanding complicated phenotype
Souza, P.V.S., Silva, L.H.L., Badia, B.M.L., Farias, I.B., Pinto, W.B.V.R., Oliveira, A.S.B.
Published in Revue neurologique (01.10.2019)
Published in Revue neurologique (01.10.2019)
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Journal Article
Motor neuron disease with leukodystrophy due to CSF1R mutation
Souza, P.V.S., Badia, B.M.L., Silva, L.H.L., Farias, I.B., Pinto, W.B.V.R., Oliveira, A.S.B.
Published in Revue neurologique (01.03.2020)
Published in Revue neurologique (01.03.2020)
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Journal Article
Rapidly progressive bulbar-onset ALS due to SS18L1 mutation
Pinto, W.B.V.R., Silva, L.H.L., Badia, B.M.L., Yanagiura, M.T., Souza, P.V.S., Oliveira, A.S.B.
Published in Revue neurologique (01.03.2020)
Published in Revue neurologique (01.03.2020)
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Journal Article