Search Results - "Badia, B.M.L."

Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy by Pinto, W.B.V.R., Souza, P.V.S., Farias, I.B., Badia, B.M.L., Chieia, M.A.T., Oliveira, A.S.B.

“…•Non-5q SMA represents an expanding group of neurogenetic diseases.•TBK1 is associated with Frontotemporal dementia and Amyotrophic Lateral Sclerosis.•We…”
Get full text

Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing by 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

“…Leigh syndrome represents a complex inherited neurometabolic and neurodegenerative disorder associated with different clinical, genetic and neuroimaging…”
Get full text

SPG76: An extremely rare hereditary spastic paraplegia with a new expanding complicated phenotype by Souza, P.V.S., Silva, L.H.L., Badia, B.M.L., Farias, I.B., Pinto, W.B.V.R., Oliveira, A.S.B.

Get full text

Motor neuron disease with leukodystrophy due to CSF1R mutation by Souza, P.V.S., Badia, B.M.L., Silva, L.H.L., Farias, I.B., Pinto, W.B.V.R., Oliveira, A.S.B.

Get full text

Rapidly progressive bulbar-onset ALS due to SS18L1 mutation by Pinto, W.B.V.R., Silva, L.H.L., Badia, B.M.L., Yanagiura, M.T., Souza, P.V.S., Oliveira, A.S.B.

Get full text