K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity (2013)
- Authors:
- Mokbel, Nancy
- Ilkovski, Biljana
- Kreissl, Michaela
- Memo, Massimiliano
- Jeffries, Cy M
- Marttila, Minttu
- Lehtokari, Vilma-Lotta
- Lemola, Elina
- Grönholm, Mikaela
- Yang, Nan
- Menard, Dominique
- Marcorelles, Pascale
- Echaniz-Laguna, Andoni
- Reimann, Jens
- Vainzof, Mariz
- Monnier, Nicole
- Ravenscroft, Gianina
- McNamara, Elyshia
- Nowak, Kristen J
- Laing, Nigel G
- Wallgren-Pettersson, Carina
- Trewhella, Jill
- Marston, Steve
- Ottenheijm, Coen
- North, Kathryn N
- Clarke, Nigel F
- Autor USP: VAINZOF, MARIZ - IB
- Unidade: IB
- DOI: 10.1093/brain/aws348
- Subjects: MUTAÇÃO GENÉTICA; MIOPATIAS CONGÊNITAS ESTRUTURAIS; DOENÇAS NEUROMUSCULARES; PROTEÍNAS MUSCULARES
- Language: Inglês
- Imprenta:
- Source:
- Status:
- Artigo possui acesso gratuito no site do editor (Bronze Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
MOKBEL, Nancy et al. K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain, v. 136, n. 2, p. 494-507, 2013Tradução . . Disponível em: https://doi.org/10.1093/brain/aws348. Acesso em: 14 abr. 2026. -
APA
Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M., Jeffries, C. M., Marttila, M., et al. (2013). K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain, 136( 2), 494-507. doi:10.1093/brain/aws348 -
NLM
Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari V-L, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF. K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity [Internet]. Brain. 2013 ; 136( 2): 494-507.[citado 2026 abr. 14 ] Available from: https://doi.org/10.1093/brain/aws348 -
Vancouver
Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari V-L, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF. K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity [Internet]. Brain. 2013 ; 136( 2): 494-507.[citado 2026 abr. 14 ] Available from: https://doi.org/10.1093/brain/aws348 - Therapeutic potential of murine mesenchymal stem cells (MSC) from adipose tissue in the treatment of muscular dystrophy in the new double mutant mouse model for the genes Dystrophin and Large
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