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

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

Publikováno v: Genetics and Molecular Biology, Vol 22, Iss 3, Pp 291-294 (1999)

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://doaj.org/article/2f22adebc6654ea5b82d7384aafd4071

Event-related potentials (P300) and neuropsychological assessment in boys exhibiting Duchenne muscular dystrophy Potencial evocado cognitivo (P300) e testagem neuropsicológica em pacientes com distrofia muscular de Duchenne

Autor: Marcus Vinicius Della Coletta, Rosana Herminia Scola, Gislaine Richter Minhoto Wiemes, Cláudia Nasser Fonseca, Maria Joana Mäder, Aline Andrade Freund, Lineu César Werneck

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 65, Iss 1, Pp 59-62 (2007)

OBJECTIVE: To examine auditory cognitive evoked potentials (P300 potentials) and neuropsychological dysfunction in patients with Duchenne muscular dystrophy (DMD). METHOD: P300 potentials and neuropsychological test results were obtained from 16 heal

Externí odkaz: https://doaj.org/article/915562e346374c31be8b03de7ccb58bd

Event-related potentials (P300) and neuropsychological assessment in boys exhibiting Duchenne muscular dystrophy

Autor: Aline Andrade Freund, Cláudia Nasser Fonseca, Maria Joana Mäder, Rosana Herminia Scola, Lineu Cesar Werneck, Gislaine Richter Minhoto Wiemes, Marcus Vinicius Della Coletta

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 65, Issue: 1, Pages: 59-62, Published: MAR 2007
Arquivos de Neuro-Psiquiatria v.65 n.1 2007
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO

OBJECTIVE: To examine auditory cognitive evoked potentials (P300 potentials) and neuropsychological dysfunction in patients with Duchenne muscular dystrophy (DMD). METHOD: P300 potentials and neuropsychological test results were obtained from 16 heal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b64b45e2e6e66775cfa51703fd2426d
https://doi.org/10.1590/s0004-282x2007000100013

Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals

Autor: Rosana Herminia Scola, Aline Andrade Freund, Lineu Cesar Werneck, Lupe Furtado Alle, Magda Clara Vieira da Costa-Ribeiro, Hélio A.G. Teive, Raquel Cristina Arndt

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 67, Issue: 4, Pages: 1124-1132, Published: DEC 2009
Arquivos de Neuro-Psiquiatria v.67 n.4 2009
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO

The diagnosis and incidence of spinocerebelar ataxias (SCA) is sometimes difficult to analyze due the overlap of phenotypes subtypes and are disorders of mutations caused by CAG trinucleotide repeat expansion. To investigate the incidence of the SCA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04de190c6b65b083016344c91c24c8d
https://pubmed.ncbi.nlm.nih.gov/20069235

Frequencies of the Butyrylcholinesterase K Mutation in Southern Brazilian Population Samples of European and African Origin

Autor: Ricardo L.R. Souza, L. Culpi, R. M. V. Castro, Eleidi A. Chautard-Freire-Maia, Aline Andrade Freund, Lilian Pereira

Publikováno v: Structure and Function of Cholinesterases and Related Proteins ISBN: 9781489915429

The K mutation determines a variant butyrylcolinesterase (BChE) whose retarded synthesis or accelerated degradation leads to a 33% reduction of activity in comparison to the usual enzyme (1). The BCHE UK and BCHE K phenotypes are only identified by d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::221aea45181ae88f18b63b99f292099c
https://doi.org/10.1007/978-1-4899-1540-5_163