Simone Amorim

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

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

Overexpression of<i>KLC2</i>due to a homozygous deletion in the non-coding region causes SPOAN syndrome

Uirá Souto Melo, Lúcia Inês Macedo‐Souza, Thalita Figueiredo et al. · Human Molecular Genetics · 2015 · 44 citations · Full text

Life Sciences, Genetics, Neurology +11

Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

Lúcia Inês Macedo‐Souza, Fernando Kok, Silvana Santos et al. · Annals of Human Genetics · 2009 · 43 citations · Full text

Life Sciences, Genetics, Neurology +17

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN)

Zódja Graciani, Silvana Santos, Lúcia Inês Macedo‐Souza et al. · Arquivos de Neuro-Psiquiatria · 2010 · 13 citations · Full text

Medicine, Neurology, Functional Movement Assessment +14