Výsledky vyhledávání - "Freund,Aline A."

MELAS: clinical features, muscle biopsy and molecular genetics

Autor: Lorenzoni, Paulo José, Scola, Rosana H., Kay, Cláudia S. Kamoi, Arndt, Raquel C., Freund, Aline A., Bruck, Isac, Santos, Mara Lúcia S.F., Werneck, Lineu C.

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 67, Issue: 3a, Pages: 668-676, Published: SEP 2009

OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::252ea1c3d1af4ef0dfb2ccccef636649
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400018&lng=en&tlng=en

Zobrazit plný text záznamu

Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach

Autor: Freund, Aline Andrade, Scola, Rosana Herminia, Arndt, Raquel Cristina, Lorenzoni, Paulo José, Kay, Claudia Kamoy, Werneck, Lineu Cesar

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 65, Issue: 1, Pages: 73-76, Published: MAR 2007

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in som

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::47c3ba9567c01931efc4ba7714bc1c2d
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000100016&lng=en&tlng=en

Zobrazit plný text záznamu

Diagnóstico molecular das ataxias espinocerebelares tipo 1, 2, 3, 6 e 7 : estudo populacional e em indivíduos com suspeita clínica

Autor: Freund, Aline Andrade

Publikováno v: oai:ufpr.br:239360
Repositório Institucional da UFPR
Universidade Federal do Paraná (UFPR)
instacron:UFPR

Orientador: Prof. Lineu Cesar Werneck Tese (doutorado) - Universidade Federal do Paraná, Setor de Ciências da Saúde, Programa de Pós-Graduação em Medicina Interna. Defesa: Curitiba, 2007 Inclui bibliografia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::9c8972a4075a4cebfe91a1169919a84a

Zobrazit plný text záznamu

Cystic fibrosis mutations R1162X and 2183AA®G in two southern Brasilian states

Autor: Pereira,Lilian, Raskin,Salmo, Freund,Aline A., Ribas,Patrícia D., Castro,Raquel M.V., Pignatti,Pier F., Culpi,Lodércio

Publikováno v: Genetics and Molecular Biology v.22 n.3 1999
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG

We screened 79 southern Brazilian patients with cystic fibrosis for the rare cystic fibrosis mutations R1162X and 2183AA®G. Forty-nine patients were born in the State of Paraná (PR) and 30 in the State of Santa Catarina (SC). Two 2183AA®G alleles

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::1abc564fd16a025db1e4886bcb7a2014
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000300002

Zobrazit plný text záznamu

Cystic fibrosis mutations R1162X and 2183AA®G in two southern Brasilian states

Autor: Pereira, Lilian, Raskin, Salmo, Freund, Aline A., Ribas, Patrícia D., Castro, Raquel M.V., Pignatti, Pier F., Culpi, Lodércio

Publikováno v: Genetics and Molecular Biology, Volume: 22, Issue: 3, Pages: 291-294, Published: SEP 1999

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::1abc564fd16a025db1e4886bcb7a2014
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000300002&lng=en&tlng=en

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání