Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease (2015)
- Authors:
- Pedroso, José Luiz - Universidade Federal de São Paulo (UNIFESP)
- Rocha, Clarissa R. R.
- Macedo-Souza, Lucia I.
- Mario, Vitor de
- Marques Junior, Wilson
- Barsottini, Orlando G. P. - Universidade Federal de São Paulo (UNIFESP)
- Oliveira, Acary S. Bulle - Universidade Federal de São Paulo (UNIFESP)
- Menck, Carlos Frederico Martins
- Kok, Fernando
- USP affiliated authors: MENCK, CARLOS FREDERICO MARTINS - ICB ; KOK, FERNANDO - FM
- Unidades: ICB; FM
- DOI: 10.1212/NXG.0000000000000030
- Assunto: MICROBIOLOGIA
- Language: Inglês
- Imprenta:
- Publisher place: Philadelphia
- Date published: 2015
- Source:
- Título: Neurology: Genetics
- ISSN: 2376-7839
- Volume/Número/Paginação/Ano: v. 1, n. 4, e30, p. 1-3, 2015
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
PEDROSO, José Luiz et al. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease. Neurology: Genetics, v. 1, n. 4, p. 1-3, 2015Tradução . . Disponível em: https://doi.org/10.1212/NXG.0000000000000030. Acesso em: 11 fev. 2026. -
APA
Pedroso, J. L., Rocha, C. R. R., Macedo-Souza, L. I., Mario, V. de, Marques Junior, W., Barsottini, O. G. P., et al. (2015). Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease. Neurology: Genetics, 1( 4), 1-3. doi:10.1212/NXG.0000000000000030 -
NLM
Pedroso JL, Rocha CRR, Macedo-Souza LI, Mario V de, Marques Junior W, Barsottini OGP, Oliveira ASB, Menck CFM, Kok F. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease [Internet]. Neurology: Genetics. 2015 ; 1( 4): 1-3.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1212/NXG.0000000000000030 -
Vancouver
Pedroso JL, Rocha CRR, Macedo-Souza LI, Mario V de, Marques Junior W, Barsottini OGP, Oliveira ASB, Menck CFM, Kok F. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease [Internet]. Neurology: Genetics. 2015 ; 1( 4): 1-3.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1212/NXG.0000000000000030 - Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
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Informações sobre o DOI: 10.1212/NXG.0000000000000030 (Fonte: oaDOI API)
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