Work

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

Year: 2007

Type: article

Study design: Observational Study

Source: European Journal of Human Genetics

DOI: 10.1038/sj.ejhg.5201924

Authors: Miguel Mitne-Neto, Fernando Kok, Christian Beetz, André Pessoa, Clarissa Bueno, Zodja Graciani, Marcilia Martyn, Carlos B M Monteiro, Guilherme Mitne, Paulo Hubert, Anders O H Nygren, Marcos Valadares, Antonia M P Cerqueira, Alessandra Starling, Thomas Deufel, Mayana Zatz

Institutions: Universidade de São Paulo, Jena University Hospital, MRC Holland (Netherlands)

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Fundação de Amparo à Pesquisa do Estado de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico, Medical Research Council

OpenAlex ID: W2014078034

FWCI: 0.562

Cites: 10

Cited by: 33

Related to: 10