Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy (2022)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1002/mdc3.13398
- Subjects: ATROFIA MUSCULAR; DISTROFIA MUSCULAR; FENÓTIPOS; OLHO
- Agências de fomento:
- Ataxia UK
- Wellcome TrustWellcome TrustEuropean Commission
- National Institute for Health Research University College London Hospitals Biomedical Research CentreGeneral Electric
- project RAC
- Edmond J. Safra Foundation
- research grant "Fondo Gianesini"
- UniCredit Foundation
- University of Verona, Italy
- Wellcome Centre for Mitochondrial Research
- MRC International Centre for Genomic Medicine in Neuromuscular DiseaseUK Research & Innovation (UKRI)Medical Research Council UK (MRC)
- Mitochondrial Disease Patient Cohort (UK)
- UK NIHR Biomedical Research Centre for Aging and Age-related disease award
- The Lily Foundation
- Pathology Society
- UK NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children
- Wellcome/MRCUK Research & Innovation (UKRI)Medical Research Council UK (MRC)
- NIHRNational Institute for Health Research (NIHR)
- Parkinson's UKParkinson's UK
- EU Horizon 2020
- Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)German Research Foundation (DFG)
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Movement disorders clinical practice
- ISSN: 2330-1619
- Volume/Número/Paginação/Ano: v. 9, n. 2, p. 218-228, 2022
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: hybrid
- Licença: cc-by
-
ABNT
MAGRINELLI, Francesca et al. Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. Movement disorders clinical practice, v. 9, n. 2, p. 218-228, 2022Tradução . . Disponível em: https://doi.org/10.1002/mdc3.13398. Acesso em: 25 maio 2024. -
APA
Magrinelli, F., Cali, E., Braga, V. L., Yis, U., Tomoum, H., Shamseldin, H., et al. (2022). Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. Movement disorders clinical practice, 9( 2), 218-228. doi:10.1002/mdc3.13398 -
NLM
Magrinelli F, Cali E, Braga VL, Yis U, Tomoum H, Shamseldin H, Raiman J, Kernstock C, Rezende Filho FM, Kok F. Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy [Internet]. Movement disorders clinical practice. 2022 ; 9( 2): 218-228.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/mdc3.13398 -
Vancouver
Magrinelli F, Cali E, Braga VL, Yis U, Tomoum H, Shamseldin H, Raiman J, Kernstock C, Rezende Filho FM, Kok F. Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy [Internet]. Movement disorders clinical practice. 2022 ; 9( 2): 218-228.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/mdc3.13398 - Encefalopatias progressivas em crianças
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Informações sobre o DOI: 10.1002/mdc3.13398 (Fonte: oaDOI API)
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