All Stories

  1. A recessive ataxia diagnosis algorithm for the next generation sequencing era

    Article • Annals of Neurology, November 2017, Wiley

    Professor Massimo Pandolfo, Dr. Rita Guerreiro

  2. Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

    Article • Movement Disorders Clinical Practice, August 2017, Wiley

    Professor Massimo Pandolfo

  3. Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

    Article • Movement Disorders Clinical Practice, February 2016, Wiley

    Professor Massimo Pandolfo

  4. Deferiprone in Friedreich ataxia: A 6-Month randomized controlled trial

    Article • Annals of Neurology, August 2014, Wiley

    Professor Massimo Pandolfo

  5. Cerebellar and Afferent Ataxias

    Article • CONTINUUM Lifelong Learning in Neurology, October 2013, Wolters Kluwer Health

    Professor Massimo Pandolfo

  6. A new locus for familial temporal lobe epilepsy on chromosome 3q

    Article • Epilepsy Research, October 2013, Elsevier

    Professor Massimo Pandolfo

  7. Deferiprone for the treatment of Friedreich's ataxia

    Article • Journal of Neurochemistry, July 2013, Wiley

    Professor Massimo Pandolfo

  8. Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia

    Article • Journal of Neurochemistry, July 2013, Wiley

    Professor Massimo Pandolfo

  9. Pediatric epilepsy genetics

    Article • Current Opinion in Neurology, April 2013, Wolters Kluwer Health

    Professor Massimo Pandolfo

  10. Treatment of Friedreich's ataxia

    Article • Expert Opinion on Orphan Drugs, February 2013, Informa Healthcare

    Professor Massimo Pandolfo

  11. Antioxidants and other pharmacological treatments for Friedreich ataxia

    Article • April 2012, Wiley

    Professor Massimo Pandolfo

  12. Friedreich ataxia

    Article • January 2012, Elsevier

    Professor Massimo Pandolfo

  13. Genetics of Epilepsy

    Article • Seminars in Neurology, November 2011, Thieme Publishing Group

    Professor Massimo Pandolfo

  14. 105 Left ventricular twist in patients with Friedreich Ataxia and normal left ventricular ejection fraction and mass

    Article • Archives of Cardiovascular Diseases Supplements, January 2011, Elsevier

    Professor Massimo Pandolfo, Dr Philippe Unger

  15. PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia

    Article • PLoS ONE, April 2010, PLOS

    Professor Massimo Pandolfo

  16. Development of histone deacetylase inhibitors as therapeutics for neurological disease

    Article • Future Neurology, November 2009, Future Medicine

    Professor Massimo Pandolfo

  17. Antioxidants and other pharmacological treatments for Friedreich ataxia

    Article • October 2009, Wiley

    Professor Massimo Pandolfo

  18. Antioxidants and other pharmacological treatments for Friedreich ataxia

    Article • April 2009, Wiley

    Professor Massimo Pandolfo

  19. Blood–Brain Barrier Promotes Differentiation of Human Fetal Neural Precursor Cells

    Article • Stem Cells, April 2009, Oxford University Press (OUP)

    Professor Massimo Pandolfo

  20. Introduction

    Article • Journal of Neurology, March 2009, Springer Science + Business Media

    Professor Massimo Pandolfo

  21. Friedreich ataxia: The clinical picture

    Article • Journal of Neurology, March 2009, Springer Science + Business Media

    Professor Massimo Pandolfo

  22. The pathogenesis of Friedreich ataxia and the structure and function of frataxin

    Article • Journal of Neurology, March 2009, Springer Science + Business Media

    Professor Massimo Pandolfo

  23. Friedreich Ataxia

    Article • Archives of Neurology, October 2008, American Medical Association (AMA)

    Professor Massimo Pandolfo

  24. Author response to “Reply to Drug Insight: antioxidant therapy in inherited ataxias”

    Article • July 2008

    Professor Massimo Pandolfo

  25. Drug Insight: antioxidant therapy in inherited ataxias

    Article • February 2008

    Professor Massimo Pandolfo

  26. Mutations causing Friedreich ataxia

    Article • Future Neurology, January 2008, Future Medicine

    Professor Massimo Pandolfo

  27. The Neurological Presentation of Ceruloplasmin Gene Mutations

    Article • European Neurology, January 2008, Karger Publishers

    Professor Massimo Pandolfo

  28. Effects of anti–glutamic acid decarboxylase antibodies associated with neurological diseases

    Article • Annals of Neurology, June 2007, Wiley

    Professor Massimo Pandolfo

  29. Chapter 7 Friedreich Ataxia

    Article • January 2007, Elsevier

    Professor Massimo Pandolfo

  30. Friedreich's Ataxia

    Article • January 2006, Elsevier

    Professor Massimo Pandolfo

  31. Effects of levetiracetam on the production of nitric oxide

    Article • Journal of Neurology, March 2005, Springer Science + Business Media

    Professor Massimo Pandolfo

  32. Animal Models of Friedreich Ataxia

    Article • January 2005, Elsevier

    Professor Massimo Pandolfo

  33. Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene

    Article • Movement Disorders, October 2004, Wiley

    Professor Massimo Pandolfo

  34. Frataxin overexpressing mice

    Article • FEBS Letters, July 2004, Wiley

    Professor Massimo Pandolfo, Jorge Sequeiros

  35. Interaction between repetitive stimulation of the sciatic nerve and functional ablation of cerebellar nucleus interpositus in the rat

    Article • The Cerebellum, March 2004, Springer Science + Business Media

    Professor Massimo Pandolfo

  36. Myorhythmia associated with Hodgkin?s lymphoma

    Article • Journal of Neurology, November 2003, Springer Science + Business Media

    Professor Massimo Pandolfo

  37. Friedreich ataxia

    Article • Seminars in Pediatric Neurology, September 2003, Elsevier

    Professor Massimo Pandolfo

  38. Bilateral High-Frequency Synchronous Discharges

    Article • Archives of Neurology, March 2003, American Medical Association (AMA)

    Professor Massimo Pandolfo

  39. Friedreich Ataxia

    Article • January 2003, Elsevier

    Professor Massimo Pandolfo

  40. Frataxin deficiency and mitochondrial dysfunction

    Article • Mitochondrion, November 2002, Elsevier

    Professor Massimo Pandolfo

  41. Iron Metabolism and Mitochondrial Abnormalities in Friedreich Ataxia

    Article • Blood Cells Molecules and Diseases, November 2002, Elsevier

    Professor Massimo Pandolfo

  42. Response to Commentary 1: Abnormal Mitochondrial Iron Metabolism in Friedreich Ataxia

    Article • Blood Cells Molecules and Diseases, November 2002, Elsevier

    Professor Massimo Pandolfo

  43. Frataxin knockin mouse

    Article • FEBS Letters, January 2002, Wiley

    Professor Massimo Pandolfo, Jorge Sequeiros

  44. Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells

    Article • FEBS Letters, November 2001, Wiley

    Professor Massimo Pandolfo

  45. Friedreich's ataxia

    Article • November 2001, Cambridge University Press

    Professor Massimo Pandolfo

  46. The Cerebellum and its Disorders

    Article • November 2001, Cambridge University Press

    Professor Massimo Pandolfo

  47. Molecular basis of Friedreich ataxia

    Article • Movement Disorders, September 2001, Wiley

    Professor Massimo Pandolfo

  48. Molecular Pathogenesis of Friedreich Ataxia

    Article • Archives of Neurology, October 1999, American Medical Association (AMA)

    Professor Massimo Pandolfo

  49. Sticky DNA

    Article • Molecular Cell, April 1999, Elsevier

    Professor Massimo Pandolfo

  50. Friedreich's Ataxia: Clinical Aspects and Pathogenesis

    Article • Seminars in Neurology, January 1999, Thieme Publishing Group

    Professor Massimo Pandolfo

  51. A missense mutation (W155R) in an American patient with Friedreich Ataxia

    Article • Human Mutation, January 1999, Hindawi Publishing Corporation

    Professor Massimo Pandolfo

  52. Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat

    Article • Human Mutation, January 1999, Wiley

    Professor Massimo Pandolfo

  53. Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat

    Article • Human Mutation, January 1999, Hindawi Publishing Corporation

    Professor Massimo Pandolfo

  54. Molecular genetics and pathogenesis of Friedreich ataxia

    Article • Neuromuscular Disorders, August 1998, Elsevier

    Professor Massimo Pandolfo

  55. Prenatal diagnosis of Friedreich ataxia

    Article • Prenatal Diagnosis, August 1998, Wiley

    Professor Massimo Pandolfo

  56. Prenatal diagnosis of Friedreich ataxia

    Article • Prenatal Diagnosis, August 1998, Wiley

    Professor Massimo Pandolfo

  57. 2 Molecular Genetics of the Hereditary Ataxias

    Article • January 1998, Elsevier

    Professor Massimo Pandolfo

  58. Friedreich ataxia: clinical and genetic aspects

    Article • Neuromuscular Disorders, September 1997, Elsevier

    Professor Massimo Pandolfo

  59. Frataxin Shows Developmentally Regulated Tissue-Specific Expression in the Mouse Embryo

    Article • Neurobiology of Disease, January 1997, Elsevier

    Professor Massimo Pandolfo

  60. Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1

    Article • Nature Genetics, June 1995, Springer Science + Business Media

    Professor Massimo Pandolfo

  61. The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients

    Article • Journal of Neurology, January 1994, Springer Science + Business Media

    Professor Massimo Pandolfo

  62. A rapid method to isolate (GT)n repeats from yeast artificial chromosomes

    Article • Nucleic Acids Research, January 1992, Oxford University Press (OUP)

    Professor Massimo Pandolfo

  63. Regional localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friedreich's ataxia locus

    Article • Human Genetics, June 1990, Springer Science + Business Media

    Professor Massimo Pandolfo

  64. A TaqI RFLP in the locus D9S29 on human chromosome 9

    Article • Nucleic Acids Research, January 1989, Oxford University Press (OUP)

    Professor Massimo Pandolfo

  65. A Pvu II RFLP in the human ADH3 gene

    Article • Nucleic Acids Research, January 1988, Oxford University Press (OUP)

    Professor Massimo Pandolfo

  66. An anonymous DNA probe (LAMP 92) detects a Pvu II polymorphism on human chromosome 9 [D9S29]

    Article • Nucleic Acids Research, January 1988, Oxford University Press (OUP)

    Professor Massimo Pandolfo

  67. Single stranded DNA binding proteins derive from hnRNP proteins by proteolysis in mammalian cells

    Article • Nucleic Acids Research, January 1985, Oxford University Press (OUP)

    Professor Massimo Pandolfo

  68. Mammalian single-stranded DNA binding proteins and heterogeneous nuclear RNA proteins have common antigenic determinants

    Article • Nucleic Acids Research, January 1985, Oxford University Press (OUP)

    Professor Massimo Pandolfo

  69. Friedreich Ataxia

    Article • Springer Science + Business Media

    Professor Massimo Pandolfo

  70. Friedreich Ataxia: Detection of GAA Repeat Expansions and Frataxin Point Mutations

    Article • Springer Science + Business Media

    Professor Massimo Pandolfo

  71. Foreword by Sid Gilman

    Article • Cambridge University Press

    Professor Massimo Pandolfo