Your browser doesn't support javascript.
loading
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Corbett, Mark A; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F; Florian, Rahel; Schneider, Amy L; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; van Rootselaar, Anne-Fleur; Correll, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; Baldassari, Sara; Tinuper, Paolo; Barton, Kirston; Carswell, Shaun; Smith, Martin; Berardelli, Alfredo; Carroll, Renee; Gardner, Alison; Friend, Kathryn L; Blatt, Ilan; Iacomino, Michele; Di Bonaventura, Carlo; Striano, Salvatore; Buratti, Julien; Keren, Boris; Nava, Caroline; Forlani, Sylvie; Rudolf, Gabrielle; Hirsch, Edouard; Leguern, Eric; Labauge, Pierre; Balestrini, Simona; Sander, Josemir W; Afawi, Zaid; Helbig, Ingo; Ishiura, Hiroyuki.
Affiliation
  • Corbett MA; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.
  • Kroes T; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.
  • Veneziano L; Institute of Translational Pharmacology, National Research Council, Rome, Italy.
  • Bennett MF; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.
  • Florian R; Department of Medical Biology, the University of Melbourne, Melbourne, 3010, VIC, Australia.
  • Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.
  • Coppola A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Licchetta L; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.
  • Franceschetti S; Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Napoli, Italy.
  • Suppa A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Wenger A; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Mei D; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Pendziwiat M; Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE, London, UK.
  • Kaya S; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.
  • Delledonne M; IRCCS Neuromed, Pozzilli, IS, Italy.
  • Straussberg R; Pacific Biosciences, Menlo Park, CA, USA.
  • Xumerle L; Neuroscience and Neurogenetics Department, Meyer Children's Hospital, Florence, Italy.
  • Regan B; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.
  • Crompton D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • van Rootselaar AF; Department of Biotechnology, University of Verona, Strada le Grazie 15, 37134, Verona, Italy.
  • Correll A; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
  • Catford R; Tel Aviv University Medical School, 69978, Tel Aviv, Israel.
  • Bisulli F; Personal Genomics, Strada le Grazie 15, 37134, Verona, Italy.
  • Chakraborty S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.
  • Baldassari S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.
  • Tinuper P; Department of Neurology, Northern Health, Melbourne, VIC, Australia.
  • Barton K; Amsterdam UMC, University of Amsterdam, Department of Neurology and Clinical Neurophysiology, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Carswell S; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Smith M; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Berardelli A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Carroll R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Gardner A; Pacific Biosciences, Menlo Park, CA, USA.
  • Friend KL; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Blatt I; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Iacomino M; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Di Bonaventura C; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
  • Striano S; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
  • Buratti J; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
  • Keren B; St-Vincent's Clinical School, Faulty of Medicine, UNSW Sydney, Darlinghurst, NSW, 2010, Australia.
  • Nava C; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.
  • Forlani S; IRCCS Neuromed, Pozzilli, IS, Italy.
  • Rudolf G; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.
  • Hirsch E; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.
  • Leguern E; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Labauge P; Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.
  • Balestrini S; Laboratory of Neurogenetics, IRCCS Istituto "G. Gaslini", Genova, Italy.
  • Sander JW; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.
  • Afawi Z; Department of Neurology, Federico II University, Napoli, Italy.
  • Helbig I; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France.
  • Ishiura H; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France.
Nat Commun ; 10(1): 4920, 2019 10 29.
Article de En | MEDLINE | ID: mdl-31664034
Sujet(s)
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Chromosomes humains de la paire 2 / Introns / Protéines de transport / Épilepsies myocloniques / Expansion de séquence répétée de l'ADN Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Langue: En Journal: Nat Commun Sujet du journal: BIOLOGIA / CIENCIA Année: 2019 Type de document: Article Pays d'affiliation: Australie
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Chromosomes humains de la paire 2 / Introns / Protéines de transport / Épilepsies myocloniques / Expansion de séquence répétée de l'ADN Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Langue: En Journal: Nat Commun Sujet du journal: BIOLOGIA / CIENCIA Année: 2019 Type de document: Article Pays d'affiliation: Australie