Work

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

Year: 2012

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1038/gim.2011.7

Authors: Maria Conceição Pereira, José Leal Loureiro, Jorge Pinto-Basto, Eva Brandão, Ana Margarida Lopes, Georgina Neves, Pureza Dias, Ruth Geraldes, Isabel Pavão Martins, Vitor Tedim Cruz, Erik-Jan Kamsteeg, Han G. Brunner, Paula Coutinho, Jorge Sequeiros, Isabel Alonso

Institutions: Instituto de Biologia Molecular e Celular, Hospital de São Sebastião, Universidade do Porto, Instituto de Ciências Biomédicas Albel Salazar, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Hospital de Santo André, Hospital de Santa Maria, Radboud University Medical Center

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: bronze

OpenAlex ID: W2102546321

FWCI: 0.755

Cites: 39

Cited by: 29

Related to: 10