Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review.

Tenorio, Renata Barreto; Camargo, Carlos Henrique F; Donis, Karina Carvalho; Almeida, Claudia Choma Bettega; Teive, Hélio A G

Tenorio, Renata Barreto; Camargo, Carlos Henrique F; Donis, Karina Carvalho; Almeida, Claudia Choma Bettega; Teive, Hélio A G.

Afiliação

Tenorio RB; Postgraduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil. genetica.curitiba@gmail.com.
Camargo CHF; Postgraduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Donis KC; Movement Disorders Sector, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Almeida CCB; Medical Genetics Service, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Teive HAG; Department of Nutrition, Federal University of Paraná, Curitiba, Paraná, Brazil.

Cerebellum ; 2023 Nov 11.

Article em En | MEDLINE | ID: mdl-37950147

Palavras-chave

Cerebellar ataxia; Next-generation sequencing; Spinocerebellar ataxia; Targeted panels; Whole exome sequencing; Whole genome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Systematic_reviews Idioma: En Revista: Cerebellum Assunto da revista: CEREBRO Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil

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