Claudia Ponto

Claudia Ponto

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Claudia Ponto

Claudia Ponto

Publications by authors named "Claudia Ponto"

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Age at onset in genetic prion disease and the design of preventive clinical trials.

Neurology 2019 Jul 6;93(2):e125-e134. Epub 2019 Jun 6.

From Broad Institute of MIT and Harvard (E.V.M., S.M.V.), Cambridge; Analytical and Translational Genetics Unit (E.V.M.), Massachusetts General Hospital; Program in Biological and Biomedical Sciences (E.V.M., S.M.V.), Harvard Medical School, Boston; Prion Alliance (E.V.M., S.M.V.), Cambridge; Harvard Business School (M.C.O.), Boston, MA; Institut du Cerveau et de la Moelle Épinière (J.-P.B., S.H.), ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Université; Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob (J.-P.B., S.H., J.-L.P.), Assistance Publique-Hôpitaux de Paris, France; National Reference Center for TSE (I.Z., C.P., P.H., T.K.), Georg-August University, Göttingen, Germany; IRCCS-Istituto delle Scienze Neurologiche di Bologna (P.P., S.C.); Departments of Experimental, Diagnostic and Specialty Medicine (P.P.) and Biomedical and Neuromotor Sciences (S.C.), University of Bologna, Italy; National Prion Disease Pathology Surveillance Center (J.S.), Case Western Reserve University, Cleveland, OH; MRC Prion Unit at UCL (J.K., S.M.), Institute of Prion Diseases, University College London, UK; Memory and Aging Center (J.C.F., L.T.T., M.D.G.), University of California San Francisco; Australian National CJD Registry (C.S., S.J.C.), University of Melbourne, Parkville, Australia; Department of Neurological Science (T.K.), Tohoku University Graduate School of Medicine, Sendai; Department of Public Health (R.A., Y.N.), Jichi Medical University, Shimotsuke; Department of Neurology and Neurobiology of Aging (T.H., M.Y.), Kanazawa University Graduate School of Medical Sciences, Kanazawa; Department of Neurology and Neurological Science (N.S.), Tokyo Medical and Dental University; National Center of Neurology and Psychiatry (T.T., H.M.), Kodaira, Japan; Laboratory of Prion Neurobiology (R.C.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan; AULSS2 Ca' Foncello Hospital (I.R.), Treviso, Italy; Spanish National Reference Center for CJD (J.d.P.-C., M.C.), Instituto de Salud Carlos III and CIBERNED, Madrid, Spain; and NHS National Prion Clinic (S.M.), National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1212/WNL.0000000000007745DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656649PMC
July 2019

Doxycycline in early CJD: a double-blinded randomised phase II and observational study.

J Neurol Neurosurg Psychiatry 2017 Feb 2;88(2):119-125. Epub 2016 Nov 2.

Department of Neurology, National Reference Center for TSE Surveillance, University Medical Center Goettingen, Göttingen, Germany.

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http://dx.doi.org/10.1136/jnnp-2016-313541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5284486PMC
February 2017

Clinical findings and diagnosis in genetic prion diseases in Germany.

Eur J Epidemiol 2016 Feb 16;31(2):187-96. Epub 2015 Jun 16.

Department of Neurology, National Reference Center for TSE Surveillance, University Medical School, Georg-August University Göttingen, Robert-Koch Str. 40, 37075, Göttingen, Germany.

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http://link.springer.com/10.1007/s10654-015-0049-y
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http://dx.doi.org/10.1007/s10654-015-0049-yDOI Listing
February 2016

Quantifying prion disease penetrance using large population control cohorts.

Sci Transl Med 2016 Jan;8(322):322ra9

Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1126/scitranslmed.aad5169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774245PMC
January 2016

Rare structural genetic variation in human prion diseases.

Neurobiol Aging 2015 May 22;36(5):2004.e1-8. Epub 2015 Jan 22.

MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.01.011DOI Listing
May 2015

Cerebrospinal fluid tau levels are a marker for molecular subtype in sporadic Creutzfeldt-Jakob disease.

Neurobiol Aging 2015 May 7;36(5):1964-8. Epub 2015 Feb 7.

National Reference Center for TSE, Clinical Dementia Center, University Medical School Göttingen, Göttingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580150007
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http://dx.doi.org/10.1016/j.neurobiolaging.2015.01.021DOI Listing
May 2015

A proposal of new diagnostic pathway for fatal familial insomnia.

J Neurol Neurosurg Psychiatry 2014 Jun 18;85(6):654-9. Epub 2013 Nov 18.

Clinical Dementia Center and National Reference Center for TSE at Department of Neurology Georg-August University, , Göttingen, Germany.

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http://jnnp.bmj.com/content/early/2014/02/12/jnnp-2013-30597
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2013-305978
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http://dx.doi.org/10.1136/jnnp-2013-305978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4033028PMC
June 2014

Diagnostic profiles of patients with late-onset Creutzfeldt-Jakob disease differ from those of younger Creutzfeldt-Jakob patients: a historical cohort study using data from the German National Reference Center.

J Neurol 2014 May 26;261(5):877-83. Epub 2014 Feb 26.

Department of Neurology, National Reference Center for TSE, Clinical Dementia Center, University Medical School Göttingen, Göttingen, Germany,

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http://link.springer.com/10.1007/s00415-014-7283-1
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http://dx.doi.org/10.1007/s00415-014-7283-1DOI Listing
May 2014

Report about four novel mutations in the prion protein gene.

Dement Geriatr Cogn Disord 2013 5;35(3-4):229-37. Epub 2013 Mar 5.

Department of Neurology, Clinical Dementia Center, Georg August University Goettingen, Goettingen, Germany. epicjd @ med.uni-goettingen.de

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https://epub.ub.uni-muenchen.de/21777/1/10_1159_000345991.pd
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http://www.karger.com/doi/10.1159/000345991
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http://dx.doi.org/10.1159/000345991DOI Listing
October 2013