The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

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作者： Lorena,Travaglini ^[1] ; Chiara,Aiello ^[2] ; Fabrizia,Stregapede ^[1] ; Adele,D'Amico ^[2] ; Viola,Alesi ^[1] ; Andrea,Ciolfi ^[3] ; Alessandro,Bruselles ^[1] ; Michela,Catteruccia ^[2] ; Simone,Pizzi ^[4] ; Ginevra,Zanni ^[2] ; Sara,Loddo ^[5] ; Sabina,Barresi ^[1] ; Gessica,Vasco ^[2] ; Marco,Tartaglia ^[2] ; Enrico,Bertini ^[1] ; Francesco,Nicita ^[2]

作者单位： Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, Polo di Ricerca S. Paolo, V.le S. Paolo, 15, 00146, Rome, Italy. ^[1] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy. ^[2] Department of Sciences, Roma Tre University, Rome, Italy. ^[3] Clinical Genetics, Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy. ^[4] Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy. ^[5] Movement Analysis and Robotics Laboratory (MARLab), Neurorehabilitation Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy. ^[6] Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, Polo di Ricerca S. Paolo, V.le S. Paolo, 15, 00146, Rome, Italy. enricosilvio.bertini@opbg.net. ^[7] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy. enricosilvio.bertini@opbg.net. ^[8] Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, Polo di Ricerca S. Paolo, V.le S. Paolo, 15, 00146, Rome, Italy. nicita.f@gmail.com. ^[9] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy. nicita.f@gmail.com. ^[10]

关键词 Ataxia CGH array Hereditary spastic paraplegias Next-generation sequencing SNP array