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A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
Campopiano, Rosa; Ferese, Rosangela; Zampatti, Stefania; Giardina, Emiliano; Biagioni, Francesca; Colonnese, Claudio; Centonze, Diego; Storto, Marianna; Buttari, Fabio; Fraviga, Edoardo; Broccoli, Vania; Fanelli, Mirco; Fornai, Francesco; Gambardella, Stefano.
Affiliation
  • Campopiano R; I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli, Italy.
  • Ferese R; I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli, Italy.
  • Zampatti S; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation IRCCS, Rome, Italy.
  • Giardina E; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation IRCCS, Rome, Italy.
  • Biagioni F; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
  • Colonnese C; I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli, Italy.
  • Centonze D; I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli, Italy.
  • Storto M; I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli, Italy.
  • Buttari F; Dipartimento di Medicina dei Sistemi, Università di Roma Tor Vergata, Rome, Italy.
  • Fraviga E; I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli, Italy.
  • Broccoli V; I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli, Italy.
  • Fanelli M; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Fornai F; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Gambardella S; CNR Institute of Neuroscience, Milan, Italy.
BMC Neurol ; 20(1): 258, 2020 Jun 29.
Article in En | MEDLINE | ID: mdl-32600288
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Polymerase III / Hereditary Central Nervous System Demyelinating Diseases Limits: Adult / Female / Humans / Male Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2020 Type: Article Affiliation country: Italy
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Polymerase III / Hereditary Central Nervous System Demyelinating Diseases Limits: Adult / Female / Humans / Male Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2020 Type: Article Affiliation country: Italy