Paola Giunti

Paola Giunti

UNVERIFIED PROFILE

Are you Paola Giunti?   Register this Author

Register author
Paola Giunti

Paola Giunti

Publications by authors named "Paola Giunti"

Are you Paola Giunti?   Register this Author

91Publications

2294Reads

22Profile Views

Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ane.13088DOI Listing
June 2019

Diagnosis and management of progressive ataxia in adults.

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.

View Article

Download full-text PDF

Source
http://pn.bmj.com/lookup/doi/10.1136/practneurol-2018-002096
Publisher Site
http://dx.doi.org/10.1136/practneurol-2018-002096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585307PMC
June 2019

Peripapillary retinal nerve fibre layer thickness in Friedreich's ataxia: a biomarker for trials?

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awz117DOI Listing
June 2019

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2018.12.024DOI Listing
May 2019

Guidelines on the diagnosis and management of the progressive ataxias.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1013-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381619PMC
February 2019

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2017-317253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6227801PMC
November 2018

Cerebellar Degeneration Increases Visual Influence on Dynamic Estimates of Verticality.

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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09609822183127
Publisher Site
http://dx.doi.org/10.1016/j.cub.2018.09.049DOI Listing
November 2018

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.

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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/bph.14557
Publisher Site
http://dx.doi.org/10.1111/bph.14557DOI Listing
November 2018

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2018.00443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258883PMC
November 2018

Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2018.00264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176067PMC
October 2018

Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2018.00366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218876PMC
October 2018

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006121DOI Listing
September 2018

Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich's Ataxia Models.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2018.00188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056642PMC
July 2018

Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771320PMC
January 2018

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-017-0709-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615455PMC
September 2017

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(16)30287-3DOI Listing
December 2016

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddw173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5179924PMC
August 2016

A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-016-0447-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4917932PMC
June 2016

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2015.11.050DOI Listing
January 2016

Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia.

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.phrs.2015.05.015DOI Listing
September 2015

Sensorimotor processing for balance in spinocerebellar ataxia type 6.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.26227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949507PMC
August 2015

Identification of telomere dysfunction in Friedreich ataxia.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13024-015-0019-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462004PMC
June 2015

Quantifiable evaluation of cerebellar signs in children.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001403DOI Listing
March 2015

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2015.00036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329791PMC
March 2015

Training balance with opto-kinetic stimuli in the home: a randomized controlled feasibility study in people with pure cerebellar disease.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0269215514539336DOI Listing
February 2015

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

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:

View Article

Download full-text PDF

Source
http://idipaz.es/NoticiasAdjuntos/231_The%20Lancet%20Neurolo
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S147444221470321
Publisher Site
http://dx.doi.org/10.1016/S1474-4422(14)70321-7DOI Listing
February 2015

When the penny drops.

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.

View Article

Download full-text PDF

Source
http://pn.bmj.com/lookup/doi/10.1136/practneurol-2014-000859
Publisher Site
http://dx.doi.org/10.1136/practneurol-2014-000859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251201PMC
December 2014

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awu174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132646PMC
September 2014

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(14)60382-2DOI Listing
August 2014

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2013.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898077PMC
February 2014

Inhibition of LRRK2 kinase activity stimulates macroautophagy.

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbamcr.2013.07.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898616PMC
December 2013

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jnc.12317DOI Listing
August 2013

Co-enzyme Q10 and idebenone use in Friedreich's ataxia.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jnc.12322DOI Listing
August 2013

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt115DOI Listing
July 2013

Stance instability in spinocerebellar ataxia type 6.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25163DOI Listing
April 2013

The frequency of spinocerebellar ataxia type 23 in a UK population.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-012-6721-1DOI Listing
March 2013

Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599305PMC
February 2013

Movement disorders in spinocerebellar ataxias.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.23584DOI Listing
April 2011

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.22970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864955PMC
April 2010

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.

Cerebellum 2008 ;7(2):106-14

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12311-008-0009-0DOI Listing
May 2009

Clinical and genetic analysis of spinocerebellar ataxia type 11.

Cerebellum 2008 ;7(2):159-64

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12311-008-0022-3DOI Listing
May 2009

Diagnosis and treatment of Friedreich ataxia: a European perspective.

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

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

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nrneurol.2009.26
Publisher Site
http://dx.doi.org/10.1038/nrneurol.2009.26DOI Listing
April 2009

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30624DOI Listing
June 2008

Prolonged cortical silent period but normal sensorimotor plasticity in spinocerebellar ataxia 6.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.21847DOI Listing
February 2008

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2007.43DOI Listing
December 2007

Centres of Excellence for the care of people with progressive ataxias.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.12968/bjon.2006.15.17.21908DOI Listing
December 2006

Molecular pathogenesis of spinocerebellar ataxias.

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.

View Article

Download full-text PDF

Source
http://brain.oxfordjournals.org/content/brain/129/6/1357.ful
Web Search
http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
Publisher Site
http://dx.doi.org/10.1093/brain/awl081DOI Listing
June 2006

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.20564DOI Listing
September 2005

Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.20230DOI Listing
September 2004

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-004-0183-2DOI Listing
September 2004

Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awf060DOI Listing
March 2002