Lúcia Inês Macedo‐Souza

Clinical and genetic characterization of leukoencephalopathies in adults

David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang et al. · Brain · 2017 · 95 citations · Full text

Medicine, Genetics, Neurology +17

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

Lúcia Inês Macedo‐Souza, Fernando Kok, Silvana Santos et al. · Annals of Neurology · 2005 · 77 citations · Full text

Life Sciences, Genetics, Neurology +17

Mutation in the Scyl1 gene encoding amino‐terminal kinase‐like protein causes a recessive form of spinocerebellar neurodegeneration

Wolfgang M. Schmidt, Cornelia Kraus, Harald Höger et al. · EMBO Reports · 2007 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Siwei Chen, Bassel Abou‐Khalil, Zaid Afawi et al. · Nature Neuroscience · 2024 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel complex neurological phenotype due to a homozygous mutation in FDX2

Juliana Gurgel‐Giannetti, Anderson Rodrigues Brandão de Paiva, Leandro Tavares Lucato et al. · Brain · 2018 · 52 citations · Full text

Life Sciences, Genetics, Neurology +17