학술논문
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Document Type
Report
Author
Ferese R; IRCCS Neuromed, Pozzilli, Italy.; Scala S; IRCCS Neuromed, Pozzilli, Italy.; Suppa A; IRCCS Neuromed, Pozzilli, Italy.; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Campopiano R; IRCCS Neuromed, Pozzilli, Italy.; Asci F; IRCCS Neuromed, Pozzilli, Italy.; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Chiaravalloti MA; IRCCS Neuromed, Pozzilli, Italy.; Zampogna A; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; D'Alessio C; IRCCS Neuromed, Pozzilli, Italy.; Fittipaldi F; IRCCS Neuromed, Pozzilli, Italy.; Buttari F; IRCCS Neuromed, Pozzilli, Italy.; Di Pardo A; IRCCS Neuromed, Pozzilli, Italy.; Giardina E; Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.; Zampatti S; Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.; Fornai F; IRCCS Neuromed, Pozzilli, Italy.; Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.; Novelli G; IRCCS Neuromed, Pozzilli, Italy.; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', Rome, Italy.; Fanelli M; Department of Biomolecular Sciences, University of Urbino 'Carlo Bo', Urbino, Italy.; Zecca C; Center for Neurodegenerative Diseases and the Aging Brain, Department of Clinical Research in Neurology, Bari University, 'Pia Fondazione Card G.Panico' Lecce, Bari, Italy.; Logroscino G; Center for Neurodegenerative Diseases and the Aging Brain, Department of Clinical Research in Neurology, Bari University, 'Pia Fondazione Card G.Panico' Lecce, Bari, Italy.; Centonze D; IRCCS Neuromed, Pozzilli, Italy.; Department of Systems Medicine, Tor Vergata University, Rome, Italy.; Gambardella S; IRCCS Neuromed, Pozzilli, Italy.; Department of Biomolecular Sciences, University of Urbino 'Carlo Bo', Urbino, Italy.
Source
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Subject
Language
English
Abstract
Flowchart showing the molecular approach used to decipher the non-canonical splicing mutations.
(© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
(© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)