Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

Tessa, A; Battini, R; Rubegni, A; Storti, E; Marini, C; Galatolo, D; Pasquariello, R; Santorelli, F M

Tessa, A; Battini, R; Rubegni, A; Storti, E; Marini, C; Galatolo, D; Pasquariello, R; Santorelli, F M.

Afiliación

Tessa A; Molecular Medicine and Neurogenetics, IRCCS Stella Maris, Pisa, Italy.
Battini R; Child Neurology, IRCCS Stella Maris, Pisa, Italy.
Rubegni A; Molecular Medicine and Neurogenetics, IRCCS Stella Maris, Pisa, Italy.
Storti E; Molecular Medicine and Neurogenetics, IRCCS Stella Maris, Pisa, Italy.
Marini C; Pediatric Neurology Unit, Children's Hospital 'A. Meyer', University of Florence, Florence, Italy.
Galatolo D; Molecular Medicine and Neurogenetics, IRCCS Stella Maris, Pisa, Italy.
Pasquariello R; Neuroradiology, IRCCS Stella Maris, Pisa, Italy.
Santorelli FM; Molecular Medicine and Neurogenetics, IRCCS Stella Maris, Pisa, Italy. filippo3364@gmail.com.

Eur J Neurol ; 23(10): 1580-7, 2016 10.

Article en En | MEDLINE | ID: mdl-27444738

Asunto(s)

Complejo 4 de Proteína Adaptadora/genética; Paraplejía Espástica Hereditaria/diagnóstico; Paraplejía Espástica Hereditaria/genética; Adolescente; Parálisis Cerebral/diagnóstico; Preescolar; Errores Diagnósticos; Femenino; Humanos; Masculino; Mutación; Linaje

Palabras clave

AP4S1; SPG52; cerebral palsy; hereditary spastic paraparesis; next generation sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Complejo 4 de Proteína Adaptadora Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Neurol Asunto de la revista: NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Italia

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