Zódja Graciani

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

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

Miguel Mitne‐Neto, Fernando Kok, Christian Beetz et al. · European Journal of Human Genetics · 2007 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV

Carlos Bandeira de Mello Monteiro, Geert J.P. Savelsbergh, Ana R.P. Smorenburg et al. · Neuropsychiatric Disease and Treatment · 2014 · 17 citations · Full text

Medicine, Pediatrics, Rehabilitation Medicine +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

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects

Silvana Santos, Eliete Pardono, Maria Ione Ferreira da Costa et al. · American Journal of Medical Genetics Part A · 2008 · 11 citations

Medicine, Genetics, Molecular Genetics +13