Professor Massimo Pandolfo

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