Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Lydia U Yamamoto"'
Autor:
Mariz Vainzof, Lydia U Yamamoto, Patrícia M Kossugue, Luciana LQ Fogaça, Fernando Z Velloso, Danielle Ayub, Viviane P Muniz, Mayana Zatz, Helga CA Silva, Silvia MG Massironi, Maria Angélica Miglino, Carlos Eduardo Ambrosio, Ligia G Miyazato, Julieta RE Moraes, Fernando HF D’Angeles, Joaquim C Lacerda Neto, Ana Carolina Mortari, Alexandre S Borges, Luiz Antonio L Rezende, Sheila C Rahal
Publikováno v:
Revista Neurociências. 13:18-20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15ba161dc90b0d08d29f380e29293fb2
https://doi.org/10.34024/rnc.2005.v13.8800
https://doi.org/10.34024/rnc.2005.v13.8800
Autor:
Juliana, Gurgel-Giannetti, Adriano S, Senkevics, Dinorah, Zilbersztajn-Gotlieb, Lydia U, Yamamoto, Viviane P, Muniz, Rita C M, Pavanello, Acary B, Oliveira, Mayana, Zatz, Mariz, Vainzof
Publikováno v:
Musclenerve. 45(2)
We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5a9e01f7e072abc077823b97e230cd7e
https://pubmed.ncbi.nlm.nih.gov/22246887
https://pubmed.ncbi.nlm.nih.gov/22246887
Autor:
Viviane P, Muniz, Adriano S, Senkevics, Dinorah, Zilbersztajn, Juliana, Gurgel-Giannetti, Helga C, Silva, Lydia U, Yamamoto, Rita C M, Pavanello, Peter L, Pearson, Mayana, Zatz, Mariz, Vainzof
Publikováno v:
Musclenerve. 41(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c1b710fe6b23c2323498a2190ebf8b19
https://pubmed.ncbi.nlm.nih.gov/19918890
https://pubmed.ncbi.nlm.nih.gov/19918890