Publications by authors named "Piero Parchi"

100Publications

Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers.

Mol Neurodegener 2020 10 15;15(1):58. Epub 2020 Oct 15.

Department of Neurosciences, Azienda Ospedaliero Universitaria Modena, Modena, Italy.

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October 2020

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.

Lancet Neurol 2020 10 16;19(10):840-848. Epub 2020 Sep 16.

Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK; National Prion Clinic, University College London Hospitals National Health Service Foundation Trust, London, UK. Electronic address:

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October 2020

Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids.

Acta Neuropathol Commun 2020 07 25;8(1):117. Epub 2020 Jul 25.

Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.

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July 2020

Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.

Neurobiol Aging 2021 Jan 13;97:145.e7-145.e15. Epub 2020 May 13.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. Electronic address:

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January 2021

First case of an gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms.

Amyotroph Lateral Scler Frontotemporal Degener 2020 08 14;21(5-6):467-469. Epub 2020 Apr 14.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy.

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August 2020

Gerstmann-Sträussler-Scheinker disease ( p.D202N) presenting with atypical parkinsonism.

Neurol Genet 2020 Apr 14;6(2):e400. Epub 2020 Feb 14.

Department of Biomedical and Neuromotor Sciences (S.B., S.C.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (S.B., S.C., A.B.-S., P.P.); Neurology Unit (R.R.), Department of Neuro-Motor Diseases, Azienda Unità Sanitaria Locale - IRCCS; Clinical Neuropsychology (A.Z., F.G., E.G.), Cognitive Disorders and Dyslexia Unit, Department of Neuro-Motor Diseases, Azienda Unità Sanitaria Locale - IRCCS, Reggio Emilia; and Department of Diagnostic Experimental and Specialty Medicine (DIMES) (P.P.), University of Bologna, Italy.

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April 2020

Detection of prions in skin punch biopsies of Creutzfeldt-Jakob disease patients.

Ann Clin Transl Neurol 2020 04 6;7(4):559-564. Epub 2020 Mar 6.

IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

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April 2020

Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases.

J Neuropathol Exp Neurol 2019 11;78(11):980-992

Department of Pathology, Danish Reference Center for Prion Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy; Department of Experimental Diagnostic and Specialty Medicine; and Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.

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November 2019

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

Neurology 2019 07 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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July 2019

A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family.

J Neuropathol Exp Neurol 2019 07;78(7):595-604

Danish Reference Center for Prion Diseases, Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark.

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July 2019

Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.

Viruses 2019 03 29;11(4). Epub 2019 Mar 29.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna 40139, Italy.

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March 2019

Sudden cardiac death in a patient with LGI1 antibody-associated encephalitis.

Seizure 2019 Feb 25;65:148-150. Epub 2019 Jan 25.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; Department of Experimental Diagnostic and Specialty Medicine (DIMES), University of Bologna, Italy.

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February 2019

Recent advances in the histo-molecular pathology of human prion disease.

Brain Pathol 2019 03 22;29(2):278-300. Epub 2019 Jan 22.

IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

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March 2019

Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum.

Ann Clin Transl Neurol 2018 Oct 21;5(10):1297-1302. Epub 2018 Sep 21.

Neurological Tissue Bank of the Biobanc-Hospital Clínic Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona Spain.

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October 2018

Clinical Reasoning: Rapidly progressive dementia in a patient with HIV after an exotic journey.

Neurology 2018 10;91(14):e1360-e1364

From the Departments of Biomedical and Neuromotor Sciences (S.A.-R., S.B.) and Experimental, Diagnostic and Specialty Medicine (DIMES) (P.P.), University of Bologna; Neurology Unit (R.D., M.G.) and Infectious Diseases Unit, Department of Medical and Surgical Sciences (N.D., G.F.), Sant'Orsola-Malpighi University Hospital; and IRCCS Institute of Neurological Sciences of Bologna (P.P.), Bellaria Hospital, Bologna, Italy.

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October 2018

Sporadic Creutzfeldt-Jakob disease.

Handb Clin Neurol 2018 ;153:155-174

Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna and IRCCS Institute of Neurological Sciences, Bologna, Italy.

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September 2018

Rapidly Progressive Alzheimer's Disease: Contributions to Clinical-Pathological Definition and Diagnosis.

J Alzheimers Dis 2018 ;63(3):887-897

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.

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June 2019

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.

Neurobiol Aging 2018 06 13;66:180.e23-180.e31. Epub 2018 Feb 13.

UOC Clinica Neurologica, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy. Electronic address:

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June 2018

Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein.

Acta Neuropathol Commun 2018 02 20;6(1):13. Epub 2018 Feb 20.

Laboratory of Persistent Viral Diseases, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 903 South Fourth Street, Hamilton, MT, 59840, USA.

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February 2018

The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias.

Alzheimers Res Ther 2018 01 11;10(1). Epub 2018 Jan 11.

Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Institute of Neurological Sciences of Bologna, Bellaria Hospital, 40139, Bologna, Italy.

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January 2018

Towards an early clinical diagnosis of sporadic CJD VV2 (ataxic type).

J Neurol Neurosurg Psychiatry 2017 09 1;88(9):764-772. Epub 2017 Jul 1.

Università di Bologna, Dipartimento di Scienze Biomediche e Neuromotorie, Bologna, Italy.

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September 2017

Neuropathological and biochemical criteria to identify acquired Creutzfeldt-Jakob disease among presumed sporadic cases.

Neuropathology 2016 Jun 15;36(3):305-10. Epub 2015 Dec 15.

Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai, Japan.

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June 2016

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Hum Mol Genet 2015 May 30;24(10):2746-56. Epub 2015 Jan 30.

Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy, IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Ospedale Bellaria, Bologna 40139, Italy,

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May 2015

Transmission properties of atypical Creutzfeldt-Jakob disease: a clue to disease etiology?

J Virol 2015 Apr 21;89(7):3939-46. Epub 2015 Jan 21.

Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai, Japan

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April 2015

Creutzfeldt-Jakob disease masked by head trauma and features of Wilson's disease.

Int J Neurosci 2015 Apr 7;125(4):312-4. Epub 2015 Jan 7.

1Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome, Italy.

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April 2015

Wait and see: a 5 year history of 'recurrent dementia'.

BMJ Case Rep 2014 Nov 19;2014. Epub 2014 Nov 19.

Department of UO Neurology, AOU Bologna, S Orsola-Malpighi Hospital, Bologna, Italy Department of Biomedical Neuromotor Sciences, University of Bologna, Bologna, Italy.

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November 2014

Primary progressive narcolepsy type 1: the other side of the coin.

Neurology 2014 Dec 29;83(23):2189-90. Epub 2014 Oct 29.

From the University of Bologna (F.P., S.V., R.L., P.P., P.A., G.P.); IRCCS Istituto delle Scienze Neurologiche (F.P., S.V., R.L., P.P., P.A., G.P.), ASL di Bologna, Italy; and Stanford University (E.M.), Palo Alto, CA.

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December 2014

Pearls & Oy-sters: rapidly progressive dementia: prions or immunomediated?

Neurology 2014 Apr;82(17):e149-52

From the Department of Neuroscience (F.C., J.M., M.T., F.V., S.V., E.G., F.B., P.N.), S. Agostino-Estense Hospital and University of Modena and Reggio Emilia, Modena; and IRCCS Institute of Neurological Sciences of Bologna and Department of Biomedical and Neuromotor Sciences (DIBINEM) (C.S., R.L., P.P.), University of Bologna, Italy.

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April 2014

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Brain 2014 Jun 10;137(Pt 6):1643-55. Epub 2014 Apr 10.

1 Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy 2 IRCCS Istituto delle Scienze Neurologiche di Bologna, AUSL di Bologna, Bologna, Italy

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June 2014

Prion protein misfolding, strains, and neurotoxicity: an update from studies on Mammalian prions.

Int J Cell Biol 2013 24;2013:910314. Epub 2013 Dec 24.

Dipartimento di Scienze Biomediche e Neuromotorie (DiBiNeM), Università di Bologna, 40123 Bologna, Italy ; IRCCS Istituto delle Scienze Neurologiche, Via Altura 3, 40139 Bologna, Italy.

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June 2014

Gait disorders in fatal familial insomnia.

Mov Disord 2014 Mar 27;29(3):420-4. Epub 2013 Dec 27.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.

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March 2014

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.

J Neurol 2013 Oct 25;260(10):2650-2. Epub 2013 Aug 25.

Dipartimento di Gerontologia, Neuroscienze ed Ortopedia, Istituto di Neurologia, Università Cattolica del Sacro Cuore, Policlinico A.Gemelli, Largo A. Gemelli 8, 00168, Rome, Italy.

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October 2013

Analyses of protease resistance and aggregation state of abnormal prion protein across the spectrum of human prions.

J Biol Chem 2013 Sep 29;288(39):27972-85. Epub 2013 Jul 29.

From the Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.

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September 2013

Molecular pathology, classification, and diagnosis of sporadic human prion disease variants.

Folia Neuropathol 2012 ;50(1):20-45

Department of Neurological Sciences, Universtity of Bologna, Via Foscolo 7, 40123, Bologna, Italy.

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August 2012

Phenotypic variability of sporadic human prion disease and its molecular basis: past, present, and future.

Acta Neuropathol 2011 Jan 24;121(1):91-112. Epub 2010 Nov 24.

Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy.

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January 2011