Paola Giunti

Summary

Affiliation: University College London
Country: UK

Publications

  1. pmc A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature
    Liana Veneziano
    Institute of Translational Pharmacology, National Research Council, Via Fosso del Cavaliere 100, 00133, Rome, Italy
    Cerebellum 13:588-95. 2014
  2. pmc Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany
    Paola Giunti
    Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Orphanet J Rare Dis 8:38. 2013
  3. doi request reprint Co-enzyme Q10 and idebenone use in Friedreich's ataxia
    Michael H Parkinson
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    J Neurochem 126:125-41. 2013
  4. pmc Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
    Susan Elizabeth Tomlinson
    MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London, UK
    J Neurol Neurosurg Psychiatry 84:1107-12. 2013
  5. doi request reprint Clinical features of Friedreich's ataxia: classical and atypical phenotypes
    Michael H Parkinson
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    J Neurochem 126:103-17. 2013

Collaborators

  • Jorg B Schulz
  • Doris Eva Bamiou
  • Sylvia Boesch
  • David Burke
  • Michael H Parkinson
  • Liana Veneziano
  • Susan Elizabeth Tomlinson
  • Kailash P Bhatia
  • Marina Frontali
  • Elide Mantuano
  • Dimitri M Kullmann
  • Michael G Hanna
  • Stephanie Schorge
  • Tracey Dawn Graves
  • Wolfgang Nachbauer
  • Robyn W Labrum
  • Caterina Mariotti
  • Stella Veronica Tan
  • Sanjeev Rajakulendran
  • Carolyn M Sue

Detail Information

Publications5

  1. pmc A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature
    Liana Veneziano
    Institute of Translational Pharmacology, National Research Council, Via Fosso del Cavaliere 100, 00133, Rome, Italy
    Cerebellum 13:588-95. 2014
    ..Mutational screening of TITF1 is important in cases of sporadic or dominant juvenile-onset ataxia, with mild chorea where no other cause is found, particularly if pituitary abnormalities are seen on imaging. ..
  2. pmc Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany
    Paola Giunti
    Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Orphanet J Rare Dis 8:38. 2013
    ..With little information in the literature, cross-sectional observational studies were conducted in the UK and Germany to collect data on resource use and the burden of the disease on individuals and their caregivers...
  3. doi request reprint Co-enzyme Q10 and idebenone use in Friedreich's ataxia
    Michael H Parkinson
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    J Neurochem 126:125-41. 2013
    ..Over the last 15 years, multiple clinical trials have assessed the efficacy of antioxidant agents in this disease. This article reviews trials of the two most important agents, namely co-enzyme Q10 and idebenone...
  4. pmc Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
    Susan Elizabeth Tomlinson
    MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London, UK
    J Neurol Neurosurg Psychiatry 84:1107-12. 2013
    ..This paper describes four previously unreported families with EA1, with the aim of understanding the phenotypic spectrum associated with different mutations...
  5. doi request reprint Clinical features of Friedreich's ataxia: classical and atypical phenotypes
    Michael H Parkinson
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    J Neurochem 126:103-17. 2013
    ..Compound heterozygotes, including those with large deletions, often have atypical features. In this paper, we review the classical and atypical clinical phenotypes of Friedreich's ataxia. ..