Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies (2022)
- Authors:
- Autor USP: ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1007/s10072-022-05934-y
- Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS; DISTROFIA MUSCULAR; DOENÇAS HEREDITÁRIAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Neurological sciences
- ISSN: 1590-1874
- Volume/Número/Paginação/Ano: v. 43, n. 7, p. 4473-4481, 2022
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
WINCKLER, Pablo Brea et al. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurological sciences, v. 43, n. 7, p. 4473-4481, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10072-022-05934-y. Acesso em: 30 dez. 2025. -
APA
Winckler, P. B., Chwal, B. C., Santos, M. A. R. D., Burguez, D., Polese-Bonatto, M., Zanoteli, E., et al. (2022). Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurological sciences, 43( 7), 4473-4481. doi:10.1007/s10072-022-05934-y -
NLM
Winckler PB, Chwal BC, Santos MARD, Burguez D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FP e, Chaves MLF, Saute JAM. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies [Internet]. Neurological sciences. 2022 ; 43( 7): 4473-4481.[citado 2025 dez. 30 ] Available from: https://doi.org/10.1007/s10072-022-05934-y -
Vancouver
Winckler PB, Chwal BC, Santos MARD, Burguez D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FP e, Chaves MLF, Saute JAM. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies [Internet]. Neurological sciences. 2022 ; 43( 7): 4473-4481.[citado 2025 dez. 30 ] Available from: https://doi.org/10.1007/s10072-022-05934-y - Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report
- Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
- Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores
- Rhabdomyolysis: a genetic perspective
- A new mutation in PYGM causing McArdle disease in a Brazilian patient [Carta]
- STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
- Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
- Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
- Therapeutic advances in 5q-linked spinal muscular atrophy
- Myasthenia gravis and COVID-19: clinical characteristics and outcomes
Informações sobre o DOI: 10.1007/s10072-022-05934-y (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
