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.

Affiliation

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 de En | MEDLINE | ID: mdl-27444738

Sujet(s)
Mots clés

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

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Paraplégie spasmodique héréditaire / Complexe protéique adaptateur 4 Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Adolescent / Child, preschool / Female / Humans / Male Langue: En Journal: Eur J Neurol Sujet du journal: NEUROLOGIA Année: 2016 Type de document: Article Pays d'affiliation: Italie Pays de publication: Royaume-Uni

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