Paola Giunti

Mov Disord 2019 Aug 18;34(8):1220-1227. Epub 2019 Jun 18.

INSERM U 1136, Sorbonne Universités, Institut Pierre Louis d'Epidémiologie et de Santé Publique, IPLESP, Paris, France.

Acta Neurol Scand 2019 Jun 8;139(6):533-539. Epub 2019 Apr 8.

Department of Molecular Neuroscience, Ataxia Centre, UCL Institute of Neurology, Queen Square, London, UK.

Pract Neurol 2019 Jun 2;19(3):196-207. Epub 2019 May 2.

Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, Sheffield, UK.

Brain 2019 Jun;142(6):e23

UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS trust, London, UK.

Parkinsonism Relat Disord 2019 May 23;62:148-155. Epub 2018 Dec 23.

Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.

Croat Med J 2019 Apr;60(2):156-157

Vinciane Quoidbach, European Brain Council, Brussels, Belgium,

Orphanet J Rare Dis 2019 02 20;14(1):51. Epub 2019 Feb 20.

Ataxia Centre, Department of Molecular Neurosciences, UCL Queen Sqaure Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Ann Clin Transl Neurol 2019 01 10;6(1):15-26. Epub 2018 Nov 10.

Reata Pharmaceuticals 2801 Gateway Drive Suite 150 Irving Texas 75063.

J Neurol Neurosurg Psychiatry 2018 11 24;89(11):1226-1227. Epub 2018 Jan 24.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

Curr Biol 2018 11 1;28(22):3589-3598.e3. Epub 2018 Nov 1.

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK. Electronic address:

Br J Pharmacol 2018 Nov 30. Epub 2018 Nov 30.

Ataxia Centre, Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology London, London, UK.

Front Cell Neurosci 2018 21;12:443. Epub 2018 Nov 21.

Ataxia Research Group, Division of Biosciences, Department of Life Sciences, College of Health and Life Sciences, Brunel University London, Uxbridge, United Kingdom.

Front Cell Neurosci 2018 23;12:429. Epub 2018 Nov 23.

Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.

Front Cell Neurosci 2018 2;12:264. Epub 2018 Oct 2.

Ataxia Centre, Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London, London, United Kingdom.

Front Cell Neurosci 2018 30;12:366. Epub 2018 Oct 30.

Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

J Neurol 2018 Sep 29;265(9):2040-2051. Epub 2018 Jun 29.

German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.

Neurology 2018 09 10;91(10):e917-e930. Epub 2018 Aug 10.

From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.

Mov Disord 2018 07 30;33(7):1119-1129. Epub 2018 Mar 30.

Department of Molecular Neuroscience, University College London, Institute of Neurology, London, UK.

Front Cell Neurosci 2018 17;12:188. Epub 2018 Jul 17.

Ataxia Centre, Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom.

Front Cell Neurosci 2018 31;12:200. Epub 2018 Jul 31.

Ataxia Centre, Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom.

J Neurol Neurosurg Psychiatry 2018 06 26;89(6):559-565. Epub 2017 Dec 26.

Department of Biostatistics and Medical Informatics, AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France.

J Mol Diagn 2018 05 17;20(3):289-297. Epub 2018 Feb 17.

Department of Medical Sciences, University of Turin, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy. Electronic address:

Brain 2018 04;141(4):989-999

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

Lancet Neurol 2018 04 13;17(4):327-334. Epub 2018 Mar 13.

Institut Pierre Louis d'Epidémiologie et de Santé Publique IPLESP, Sorbonne Université, INSERM, Paris, France; Assistance Publique-Hôpitaux de Paris AP-HP, Pitié-Salpêtrière University Hospital Paris, Paris, France. Electronic address:

Biosci Rep 2018 04 20;38(2). Epub 2018 Apr 20.

School of Pharmacy, University of Reading, Whiteknights, Reading RG6 6AP, U.K.

Ann Clin Transl Neurol 2018 01 4;5(1):102-108. Epub 2017 Dec 4.

Ataxia Centre Department of Molecular Neuroscience University College London Institute of Neurology London WC1N 3BG United Kingdom.

Orphanet J Rare Dis 2017 09 26;12(1):158. Epub 2017 Sep 26.

Department of Molecular Neuroscience, Ataxia Centre, UCL Institute of Neurology and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG, UK.

Hum Mol Genet 2017 08;26(16):3130-3143

William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK.

Mov Disord Clin Pract 2017 Sep-Oct;4(5):689-697. Epub 2017 Aug 11.

Paris-Sorbonne Universités Université Pierre et Marie Curie UMR 1136 Institut National de la Santé et de la Recherche Médicale (INSERM) Institut Pierre Louis d'Epidémiologie et de Santé Publique Paris France.

Curr Med Res Opin 2017 May 2;33(5):877-890. Epub 2017 Mar 2.

ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.

Lancet Neurol 2016 Dec;15(13):1346-1354

Department of Neurology, RWTH Aachen University, Aachen, Germany; JARA-BRAIN Institute of Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany. Electronic address:

Hum Mol Genet 2016 08 10;25(15):3232-3244. Epub 2016 Jun 10.

William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom

Ann Neurol 2016 Jun 6;79(6):983-90. Epub 2016 May 6.

MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, United Kingdom.

Orphanet J Rare Dis 2016 06 22;11(1):82. Epub 2016 Jun 22.

Department of Molecular Neuroscience, Ataxia Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Am J Hum Genet 2016 Apr;98(4):763-71

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, WC1N 3BG London, UK.

Ann Neurol 2016 Mar;79(3):485-95

Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

Proc Natl Acad Sci U S A 2016 Mar 16;113(9):E1236-45. Epub 2016 Feb 16.

Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom;

Mov Disord Clin Pract 2016 May-Jun;3(3):230-240. Epub 2016 Feb 11.

German Center for Neurodegenerative Diseases (DZNE) Bonn Germany.

J Neurol Sci 2016 Jan 27;360:78-83. Epub 2015 Nov 27.

Institute of Cell Biology and Neurobiology, National Council of Research, 00015 Monterotondo, Italy. Electronic address:

Lancet Neurol 2015 Nov 13;14(11):1101-8. Epub 2015 Sep 13.

Department of Neurology, University Hospital of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases, Germany. Electronic address:

Pharmacol Res 2015 Sep 2;99:344-50. Epub 2015 Jul 2.

Department of Molecular Neuroscience, UCL, Institute of Neurology, Queen Square, WC1N 3BG London, UK. Electronic address:

Mov Disord 2015 Aug 16;30(9):1259-66. Epub 2015 Apr 16.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK.

Mol Neurodegener 2015 Jun 10;10:22. Epub 2015 Jun 10.

Division of Biosciences, Department of Life Sciences, College of Health & Life Sciences, Brunel University London, Uxbridge, UB8 3PH, UK.

Neurology 2015 Mar 25;84(12):1225-32. Epub 2015 Feb 25.

From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.

Front Cell Neurosci 2015 16;9:36. Epub 2015 Feb 16.

Laboratory of Neurogenetics, Institute of Translational Pharmacology, National Research Council of Italy Rome, Italy.

Clin Rehabil 2015 Feb 31;29(2):143-53. Epub 2014 Jul 31.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK.

Lancet Neurol 2015 Feb 5;14(2):174-82. Epub 2015 Jan 5.

Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address:

Pract Neurol 2014 Dec 9;14(6):409-14. Epub 2014 Jun 9.

Department of Molecular Neuroscience, UCL Institute of Neurology, and National Hospital for Neurology & Neurosurgery, London, UK.

Cerebellum 2014 Oct;13(5):588-95

Institute of Translational Pharmacology, National Research Council, Via Fosso del Cavaliere 100, 00133, Rome, Italy.

Brain 2014 Sep 26;137(Pt 9):2444-55. Epub 2014 Jun 26.

4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France27 Ecole Pratique des Hautes Etudes, heSam Université, laboratoire de neurogénétique, ICM, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.

Lancet 2014 Aug 30;384(9942):504-13. Epub 2014 Apr 30.

Gene Control Mechanisms and Disease Group, Department of Medicine and MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, London, UK. Electronic address:

Am J Hum Genet 2014 Aug 24;95(2):209-17. Epub 2014 Jul 24.

Department of Medical Sciences, University of Torino, 10126 Torino, Italy; Medical Genetics Unit, Azienda Ospedaliera Universitaria Città della Salute e della Scienza, 10126 Torino, Italy. Electronic address:

J Med Genet 2014 Jul 29;51(7):479-86. Epub 2014 Apr 29.

UPMC Univ Paris 06, ER4, Modelling in Clinical Research, Paris, France Department of Biostatistics and Medical Informatics, AP-HP, Hopitaux Universitaires Pitié-Salpétrière Charles-Foix, Paris, France.

Neurobiol Aging 2014 Feb 13;35(2):443.e1-3. Epub 2013 Sep 13.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, UK. Electronic address:

PLoS Genet 2013 25;9(7):e1003648. Epub 2013 Jul 25.

MRC NIMR, London, United Kingdom.

Biochim Biophys Acta 2013 Dec 1;1833(12):2900-2910. Epub 2013 Aug 1.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; School of Pharmacy, University of Reading, Whiteknights, Reading, RG6 6AP, UK. Electronic address:

J Neurol Neurosurg Psychiatry 2013 Oct 24;84(10):1107-12. Epub 2013 Jan 24.

MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London, UK.

J Neurochem 2013 Aug;126 Suppl 1:103-17

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

J Neurochem 2013 Aug;126 Suppl 1:125-41

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

Hum Mol Genet 2013 Jul 7;22(13):2662-75. Epub 2013 Mar 7.

Gene Control Mechanisms and Disease Group, MRC Clinical Sciences Centre, Imperial College School Medicine, Hammersmith Hospital Campus. Du Cane Road, London, UK.

Mov Disord 2013 Apr 9;28(4):510-6. Epub 2012 Nov 9.

Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom.

J Neurol 2013 Mar 30;260(3):856-9. Epub 2012 Oct 30.

Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

Orphanet J Rare Dis 2013 Feb 28;8:38. Epub 2013 Feb 28.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Neuropsychologia 2013 Jan 16;51(2):267-74. Epub 2012 Oct 16.

Department of Neurology, Vanderbilt University, Nashville TN, USA.

J Neurol Neurosurg Psychiatry 2013 Jan 3;84(1):114-6. Epub 2012 Nov 3.

Brain 2013 Jan;136(Pt 1):259-68

Santhera Pharmaceuticals, Hammerstrasse 49, CH-4410 Liestal, Switzerland.

Arch Neurol 2012 Jun;69(6):746-51

Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.

Cerebellum 2012 Mar;11(1):155-66

Department of Neurology, University Hospital of Bonn, Sigmund-Freud-Straße 25, 53105 Bonn, Germany.

Mov Disord 2011 Apr 2;26(5):792-800. Epub 2011 Mar 2.

Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Mov Disord 2011 Apr 21;26(5):870-6. Epub 2011 Mar 21.

Department of Neurology, University Hospital of Bonn, Bonn, Germany.

Eur J Hum Genet 2010 Nov 24;18(11):1173-6. Epub 2010 Feb 24.

Institute for Molecular and Cell Biology and ICBAS, University Porto, Porto, Portugal.

Mov Disord 2010 Oct;25(13):2176-82

Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, UK.

Cerebellum 2010 Jun;9(2):232-9

Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands.

Mov Disord 2010 Apr;25(5):587-95

Department of Neurology, University Hospital of Bonn, Bonn, Germany.

Mov Disord 2010 Apr;25(6):771-3

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.

Cerebellum 2008 ;7(2):106-14

UCL Institute of Child Health, University College London, London, UK.

Cerebellum 2008 ;7(2):159-64

Neurogenetics, Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

Nat Rev Neurol 2009 Apr;5(4):222-34

Department of Neurology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, Aachen, Germany.

Am J Med Genet B Neuropsychiatr Genet 2008 Jun;147B(4):439-46

IPATIMUP-Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Portugal.

Mov Disord 2008 Feb;23(3):378-85

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom.

Nat Genet 2007 Dec 25;39(12):1434-6. Epub 2007 Nov 25.

Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

Arch Neurol 2007 Oct;64(10):1502-8

Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências, University of Porto, Porto, Portugal.

J Neurol Neurosurg Psychiatry 2007 Jul 8;78(7):774-5. Epub 2006 Dec 8.

PLoS Genet 2007 Jun 16;3(6):e108. Epub 2007 May 16.

Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America.

Br J Nurs 2006 Sep 28-Oct 11;15(17):932-6

Ataxia UK, and National Hospital for Neurology and Neurosurgery, London.

Brain 2006 Jun 13;129(Pt 6):1357-70. Epub 2006 Apr 13.

Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

Mov Disord 2006 May;21(5):699-704

Department of Neurology, University Hospital of Bonn, Bonn, Germany.

Mov Disord 2005 Sep;20(9):1115-9

Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom.

Ann Neurol 2004 Sep;56(3):448-52

Division of Neuropathology, Institute of Neurology, Queen Square, London, United Kingdom.

Neurogenetics 2004 Sep 31;5(3):177-85. Epub 2004 Jul 31.

Department of Neurological Sciences, 1st Medical School, La Sapienza University, Rome, Italy.

Brain 2002 Mar;125(Pt 3):656-63

Hereditary Ataxia Research Group, Imperial College, Departments of Neurology. and. Neuropathology, Institute of Neurology, University College London, London, UK and. Clinica Neurologica 2, Università di Padova, Italy.