Neuromuscular Disorders
Volume 19, Issue 12 , Pages 837-840, December 2009

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

  • Roberto Massa

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 06 72596004; fax: +39 06 72596022.
  • ,
  • Alessandra Tessa

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy
  • ,
  • Maria Margollicci

      Affiliations

    • Laboratory of Metabolic Genetics, Department of Pediatrics, University of Siena, Siena, Italy
  • ,
  • Vanna Micheli

      Affiliations

    • Section of Biochemistry, University of Siena, Siena, Italy
  • ,
  • Andrea Romigi

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
  • ,
  • Giulia Tozzi

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy
  • ,
  • Chiara Terracciano

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
  • ,
  • Fiorella Piemonte

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy
  • ,
  • Giorgio Bernardi

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
  • ,
  • Filippo M. Santorelli

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy

Received 3 July 2009; received in revised form 10 August 2009; accepted 27 August 2009.

To access this article, please choose from the options below

Login to an existing account or Register a new account.

  • Purchase this article for 31.50 USD (You must login/register to purchase this article)

    Online access for 24 hours. The PDF version can be downloaded as your permanent record.

  • Claim access now

    For current subscribers with Society Membership or Account Number.

  • Visit SciVerse ScienceDirect to see if you have access via your institution.

PII: S0960-8966(09)00594-X

doi:10.1016/j.nmd.2009.08.013

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 837-840, December 2009