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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos, Michael G; Hodgson, Bree L; Pippucci, Tommaso; Saidin, Akzam; Ong, Yeh Sze; Heron, Sarah E; Licchetta, Laura; Bisulli, Francesca; Bayly, Marta A; Hughes, James; Baldassari, Sara; Palombo, Flavia; Santucci, Margherita; Meletti, Stefano; Berkovic, Samuel F; Rubboli, Guido; Thomas, Paul Q; Scheffer, Ingrid E; Tinuper, Paolo; Geoghegan, Joel; Schreiber, Andreas W; Dibbens, Leanne M.
Afiliação
  • Ricos MG; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Hodgson BL; Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia.
  • Pippucci T; Molecular Neurogenomics Research Laboratory, Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.
  • Saidin A; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Ong YS; Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia.
  • Heron SE; Molecular Neurogenomics Research Laboratory, Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.
  • Licchetta L; Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi University Hospital, Bologna, Italy.
  • Bisulli F; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
  • Bayly MA; Novocraft Technologies Sdn Bhd, Selangor, Malaysia.
  • Hughes J; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Baldassari S; Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia.
  • Palombo F; Molecular Neurogenomics Research Laboratory, Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.
  • Santucci M; Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia.
  • Meletti S; Molecular Neurogenomics Research Laboratory, Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.
  • Berkovic SF; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Rubboli G; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Thomas PQ; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Scheffer IE; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Tinuper P; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Geoghegan J; Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia.
  • Schreiber AW; Molecular Neurogenomics Research Laboratory, Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.
  • Dibbens LM; School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.
Ann Neurol ; 79(1): 120-31, 2016 Jan.
Article em En | MEDLINE | ID: mdl-26505888
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Transdução de Sinais / Epilepsias Parciais / Proteínas Ativadoras de GTPase / Proteínas Supressoras de Tumor / Complexos Multiproteicos / Serina-Treonina Quinases TOR Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Transdução de Sinais / Epilepsias Parciais / Proteínas Ativadoras de GTPase / Proteínas Supressoras de Tumor / Complexos Multiproteicos / Serina-Treonina Quinases TOR Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article