A novel complex neurological phenotype due to a homozygous mutation in FDX2 (2018)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1093/brain/awy172
- Subjects: FENÓTIPOS; MIOPATIAS CONGÊNITAS ESTRUTURAIS; ATROFIA MUSCULAR; SEQUENCIAMENTO GENÉTICO; IMAGEM POR RESSONÂNCIA MAGNÉTICA
- Agências de fomento:
- Swedish Research Council [2012-02014]
- COST Action FeSBioNet [CA15133]
- Financiado pela DFG
- Wellcome Trust
- Financiado pelo Medical Research Council
- Leonard Wolfson Experimental Neurology Centre
- FAPESP-CEPID e INCT-CNPq
- Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG)
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
- Language: Inglês
- Imprenta:
- Source:
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
GURGEL-GIANNETTI, Juliana e KOK, Fernando. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain, v. 141, p. 2289-2298, 2018Tradução . . Disponível em: https://doi.org/10.1093/brain/awy172. Acesso em: 11 fev. 2026. -
APA
Gurgel-giannetti, J., & Kok, F. (2018). A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain, 141, 2289-2298. doi:10.1093/brain/awy172 -
NLM
Gurgel-giannetti J, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2 [Internet]. Brain. 2018 ; 141 2289-2298.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1093/brain/awy172 -
Vancouver
Gurgel-giannetti J, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2 [Internet]. Brain. 2018 ; 141 2289-2298.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1093/brain/awy172 - Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
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Informações sobre o DOI: 10.1093/brain/awy172 (Fonte: oaDOI API)
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