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Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Ferese, Rosangela; Scala, Simona; Suppa, Antonio; Campopiano, Rosa; Asci, Francesco; Chiaravalloti, Maria Antonietta; Zampogna, Alessandro; D'Alessio, Carmelo; Fittipaldi, Filomena; Buttari, Fabio; Di Pardo, Alba; Giardina, Emiliano; Zampatti, Stefania; Fornai, Francesco; Novelli, Giuseppe; Fanelli, Mirco; Zecca, Chiara; Logroscino, Giancarlo; Centonze, Diego; Gambardella, Stefano.
Affiliation
  • Ferese R; IRCCS Neuromed, Pozzilli, Italy.
  • Scala S; IRCCS Neuromed, Pozzilli, Italy.
  • Suppa A; IRCCS Neuromed, Pozzilli, Italy.
  • Campopiano R; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
  • Asci F; IRCCS Neuromed, Pozzilli, 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; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
  • Buttari F; IRCCS Neuromed, Pozzilli, Italy.
  • Di Pardo A; IRCCS Neuromed, Pozzilli, Italy.
  • Giardina E; IRCCS Neuromed, Pozzilli, Italy.
  • Zampatti S; IRCCS Neuromed, Pozzilli, Italy.
  • Fornai F; Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.
  • Novelli G; Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.
  • Fanelli M; IRCCS Neuromed, Pozzilli, Italy.
  • Zecca C; Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
  • Logroscino G; IRCCS Neuromed, Pozzilli, Italy.
  • Centonze D; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
  • Gambardella S; Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.
Clin Genet ; 102(2): 155-156, 2022 08.
Article in En | MEDLINE | ID: mdl-35524423
ABSTRACT
Flowchart showing the molecular approach used to decipher the non-canonical splicing mutations.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary Limits: Humans Language: En Journal: Clin Genet Year: 2022 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary Limits: Humans Language: En Journal: Clin Genet Year: 2022 Type: Article Affiliation country: Italy