Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.

Hammer, M B; Eleuch-Fayache, G; Gibbs, J R; Arepalli, S K; Chong, S B; Sassi, C; Bouhlal, Y; Hentati, F; Amouri, R; Singleton, A B

Hammer, M B; Eleuch-Fayache, G; Gibbs, J R; Arepalli, S K; Chong, S B; Sassi, C; Bouhlal, Y; Hentati, F; Amouri, R; Singleton, A B.

Afiliación

Hammer MB; Department of Molecular Neurobiology and Neuropathology, National Institute of Neurology, La Rabta, Tunis, Tunisia.
Eleuch-Fayache G; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Gibbs JR; Department of Molecular Neurobiology and Neuropathology, National Institute of Neurology, La Rabta, Tunis, Tunisia.
Arepalli SK; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Chong SB; Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
Sassi C; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Bouhlal Y; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Hentati F; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Amouri R; Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
Singleton AB; Institute of Human Genetics, UCSF, San Francisco, CA, USA.

Eur J Neurol ; 20(3): 486-492, 2013 Mar.

Article en En | MEDLINE | ID: mdl-23043354

Asunto(s)

Exoma/genética; Proteínas de Choque Térmico/genética; Proteínas/genética; Ataxias Espinocerebelosas/diagnóstico; Ataxias Espinocerebelosas/genética; Adolescente; Edad de Inicio; Secuencia de Aminoácidos; Apolipoproteínas B/genética; Secuencia de Bases; Niño; Preescolar; Femenino; Genotipo; Humanos; Lactante; Masculino; Datos de Secuencia Molecular; Linaje; Polimorfismo de Nucleótido Simple; Adulto Joven

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas / Ataxias Espinocerebelosas / Exoma / Proteínas de Choque Térmico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Neurol Asunto de la revista: NEUROLOGIA Año: 2013 Tipo del documento: Article País de afiliación: Túnez

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