Your browser doesn't support javascript.
loading
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Travaglini, Lorena; Aiello, Chiara; Stregapede, Fabrizia; D'Amico, Adele; Alesi, Viola; Ciolfi, Andrea; Bruselles, Alessandro; Catteruccia, Michela; Pizzi, Simone; Zanni, Ginevra; Loddo, Sara; Barresi, Sabina; Vasco, Gessica; Tartaglia, Marco; Bertini, Enrico; Nicita, Francesco.
Afiliación
  • Travaglini L; Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, Polo di Ricerca S. Paolo, V.le S. Paolo, 15, 00146, Rome, Italy.
  • Aiello C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Stregapede F; Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, Polo di Ricerca S. Paolo, V.le S. Paolo, 15, 00146, Rome, Italy.
  • D'Amico A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Alesi V; Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, Polo di Ricerca S. Paolo, V.le S. Paolo, 15, 00146, Rome, Italy.
  • Ciolfi A; Department of Sciences, Roma Tre University, Rome, Italy.
  • Bruselles A; Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, Polo di Ricerca S. Paolo, V.le S. Paolo, 15, 00146, Rome, Italy.
  • Catteruccia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Pizzi S; Clinical Genetics, Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Zanni G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Loddo S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Barresi S; Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, Polo di Ricerca S. Paolo, V.le S. Paolo, 15, 00146, Rome, Italy.
  • Vasco G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Bertini E; 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; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Neurogenetics ; 19(2): 111-121, 2018 05.
Article en En | MEDLINE | ID: mdl-29691679
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos