Sabina Capellari

Sabina Capellari

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Sabina Capellari

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

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

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

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http://dx.doi.org/10.1093/jnen/nlz037DOI Listing
July 2019

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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http://dx.doi.org/10.3233/JAD-171181DOI Listing
June 2019

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

Neurology 2019 Jun 6. 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
June 2019

Clinical pharmacokinetics of pramipexole, ropinirole and rotigotine in patients with Parkinson's disease.

Parkinsonism Relat Disord 2019 Apr 8;61:111-117. Epub 2018 Nov 8.

IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2018.11.007DOI Listing
April 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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http://doi.wiley.com/10.1111/bpa.12695
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http://dx.doi.org/10.1111/bpa.12695DOI Listing
March 2019

Observing movement disorders: best practice proposal in the use of video recording in clinical practice.

Neurol Sci 2019 Feb 17;40(2):333-338. Epub 2018 Nov 17.

Department of Biomedical and Neuromotor Sciences, Unit of Neurology, Bellaria Hospital, University of Bologna, Via Altura, 3, 40139, Bologna, Italy.

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http://dx.doi.org/10.1007/s10072-018-3639-0DOI Listing
February 2019

Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the gene.

J Neurol Neurosurg Psychiatry 2018 Dec 21;89(12):1243-1249. Epub 2018 Jul 21.

Department of Neuroscience, Istituto Superiore di Sanità, Roma, Italy

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http://dx.doi.org/10.1136/jnnp-2018-318756DOI Listing
December 2018

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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http://dx.doi.org/10.1016/j.neurobiolaging.2018.02.006DOI Listing
June 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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https://alzres.biomedcentral.com/articles/10.1186/s13195-017
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http://dx.doi.org/10.1186/s13195-017-0331-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784714PMC
January 2018

Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease.

J Alzheimers Dis 2018 ;64(4):1051-1065

IRCCS Institute of Neurological Sciences, Bologna, Italy.

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http://dx.doi.org/10.3233/JAD-180123DOI Listing
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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http://dx.doi.org/10.1136/jnnp-2017-315942DOI Listing
September 2017

A new potential biomarker for dementia with Lewy bodies: Skin nerve α-synuclein deposits.

Neurology 2017 Jul 30;89(4):318-326. Epub 2017 Jun 30.

From the IRCCS Institute of Neurological Sciences (V.D., A.I., G.R., S.C., R.P., M.S.M., F.M., A.B., R.L.); Department of Biomedical and Neuromotor Sciences (G.R., S.C., R.L.), University of Bologna; Neurological Unit (G. Devigili, R.E.), Department of Neurosciences, "Santa Maria della Misericordia" University Hospital Udine; and Department of Basic Medical Sciences (G. Defazio), Neuroscience and Sense Organs, "Aldo Moro" University of Bari, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000004146DOI Listing
July 2017

Spine Topographical Distribution of Skin α-Synuclein Deposits in Idiopathic Parkinson Disease.

J Neuropathol Exp Neurol 2017 May;76(5):384-389

From the IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy (VD, AI, GR, CS, SC, EF, PA, RL); and Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy (GR, SC, EF, PA, RL).

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http://dx.doi.org/10.1093/jnen/nlx021DOI Listing
May 2017

Behçet disease presenting with movement disorders and antibasal ganglia antibodies.

Autoimmun Rev 2016 Mar 27;15(3):287-8. Epub 2015 Nov 27.

Department of Neurology, King's College NHS Foundation Trust, London, United Kingdom; Department of Neurology, Queen Elizabeth Hospital, Lewisham and Greenwich NHS Trust, London, United Kingdom.

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http://dx.doi.org/10.1016/j.autrev.2015.11.011DOI Listing
March 2016

Pharmacodynamics of a low subacute levodopa dose helps distinguish between multiple system atrophy with predominant Parkinsonism and Parkinson's disease.

J Neurol 2016 Feb 14;263(2):250-256. Epub 2015 Nov 14.

IRCCS, Institute of Neurological Sciences of Bologna, c/o Padiglione G, Ospedale Bellaria, Via Altura 3, 40139, Bologna, Italy.

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http://dx.doi.org/10.1007/s00415-015-7961-7DOI Listing
February 2016

A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings.

Auton Neurosci 2016 Feb 8;195:20-6. Epub 2016 Feb 8.

IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.autneu.2016.02.005DOI 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

Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy.

Brain Res Bull 2015 Aug 17;117:24-31. Epub 2015 Jul 17.

Functional MR Unit, Policlinico S. Orsola - Malpighi, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.brainresbull.2015.07.002DOI Listing
August 2015

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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http://hmg.oxfordjournals.org/content/24/10/2746.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddv034
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http://dx.doi.org/10.1093/hmg/ddv034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406291PMC
May 2015

Mutant PrPCJD prevails over wild-type PrPCJD in the brain of V210I and R208H genetic Creutzfeldt-Jakob disease patients.

Biochem Biophys Res Commun 2014 Nov 19;454(2):289-94. Epub 2014 Oct 19.

Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2014.10.051DOI Listing
November 2014

Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

J Neurol 2014 Sep 3;261(9):1803-9. Epub 2014 Jul 3.

Department of Biomedical and Neuromotor Sciences, (DIBINEM), University of Bologna, Bologna, Italy,

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http://dx.doi.org/10.1007/s00415-014-7425-5DOI Listing
September 2014

Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease.

Neurology 2014 Apr 14;82(15):1362-9. Epub 2014 Mar 14.

From the IRCCS Istituto delle Scienze Neurologiche (V.D., A.I., V.L., M.P.G., C.S., S.C., P.A., A.B., R.L.), Bologna; and Dipartimento di Scienze Biomediche e Neuromotorie (V.L., M.P.G., P.M., S.C., P.A., R.L.), Università di Bologna, Italy.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000031
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http://dx.doi.org/10.1212/WNL.0000000000000316DOI Listing
April 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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http://dx.doi.org/10.1002/mds.25786DOI Listing
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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http://dx.doi.org/10.1007/s00415-013-7078-9DOI Listing
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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http://dx.doi.org/10.1074/jbc.M113.477547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784711PMC
September 2013

Neurosyphilis orofacial dyskinesia: the candy sign.

Mov Disord 2013 Feb 19;28(2):246-7. Epub 2012 Nov 19.

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http://dx.doi.org/10.1002/mds.25281DOI Listing
February 2013

Prion disease: diagnostic value of cerebrospinal fluid markers.

Nat Rev Neurol 2013 Jan 4;9(1):10-1. Epub 2012 Dec 4.

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http://dx.doi.org/10.1038/nrneurol.2012.253DOI Listing
January 2013

Nuclear lamins: functions and clinical implications.

Neurology 2012 Oct;79(16):1726-31

IRCCS Istituto delle Scienze Neurologiche di Bologna & Dipartimento di Scienze Neurologiche, Alma Mater Studiorum-Università di Bologna, Bologna, Italy.

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http://dx.doi.org/10.1212/WNL.0b013e31826ea887DOI Listing
October 2012

Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.

Neurol Sci 2011 Aug 9;32(4):537-45. Epub 2011 Apr 9.

Dipartimento di Scienze Neurologiche, Università di Bologna, 40123, Bologna, Italy.

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http://www.springerlink.com/index/p844075803030784.pdf
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http://link.springer.com/content/pdf/10.1007/s10072-011-0514
Web Search
http://link.springer.com/10.1007/s10072-011-0514-7
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http://dx.doi.org/10.1007/s10072-011-0514-7DOI Listing
August 2011

A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.

J Neuropathol Exp Neurol 2011 Aug;70(8):698-702

Dutch Surveillance Centre for Prion Diseases, University Medical Centre Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1097/NEN.0b013e3182270c54DOI Listing
August 2011

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy.

Auton Neurosci 2011 Jan 16;159(1-2):123-6. Epub 2010 Aug 16.

Neurological Sciences Department, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.autneu.2010.07.011DOI Listing
January 2011

Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis.

Acta Neuropathol 2011 Jan 27;121(1):21-37. Epub 2010 Oct 27.

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

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http://dx.doi.org/10.1007/s00401-010-0760-4DOI Listing
January 2011

An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.

Neurol Sci 2010 Dec 21;31(6):837-9. Epub 2010 Aug 21.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1007/s10072-010-0388-0DOI Listing
December 2010

The RET51/FKBP52 complex and its involvement in Parkinson disease.

Hum Mol Genet 2010 Jul 4;19(14):2804-16. Epub 2010 May 4.

Unità di Genetica Medica, Policlinico Universitario S. Orsola-Malpighi, Bologna, Italy.

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http://dx.doi.org/10.1093/hmg/ddq181DOI Listing
July 2010

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

Acta Neuropathol 2010 Feb 13;119(2):189-97. Epub 2009 Nov 13.

Dutch Surveillance Centre for Prion Diseases, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00401-009-0609-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808512PMC
February 2010

Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.

Neurol Sci 2009 Oct 14;30(5):417-20. Epub 2009 Jul 14.

Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy.

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http://dx.doi.org/10.1007/s10072-009-0118-7DOI Listing
October 2009

Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study.

Brain 2009 Oct 15;132(Pt 10):2669-79. Epub 2009 Sep 15.

MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Azienda Universitario-Ospedaliera di Bologna, Via Massarenti 9, Bologna, Italy.

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http://dx.doi.org/10.1093/brain/awp210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759338PMC
October 2009

Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.

Neurogenetics 2008 May 18;9(2):109-18. Epub 2008 Mar 18.

Departamento de Zoología y Biología Celular, Facultad de Farmacia, Universidad del País Vasco, Vitoria-Gasteiz, Alava, Spain.

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http://dx.doi.org/10.1007/s10048-008-0120-xDOI Listing
May 2008

A refined method for molecular typing reveals that co-occurrence of PrP(Sc) types in Creutzfeldt-Jakob disease is not the rule.

Lab Invest 2007 Nov 24;87(11):1103-12. Epub 2007 Sep 24.

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

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http://dx.doi.org/10.1038/labinvest.3700676DOI Listing
November 2007

Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study.

Brain Pathol 2007 Jul 23;17(3):297-303. Epub 2007 Apr 23.

Institut de Neuropatologia, Servei Anatomia Patològica, IDIBELL-Hospital Universitari de Bellvitge, Universitat de Barcelona, 08907 Hospitalet de Llobregat, Spain.

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http://dx.doi.org/10.1111/j.1750-3639.2007.00073.xDOI Listing
July 2007

Characterization of the F198S prion protein mutation: enhanced glycosylation and defective refolding.

J Alzheimers Dis 2005 Apr;7(2):159-71; discussion 173-80

Department of Physiology and Biophysics, Howard University College of Medicine, Washington, DC 20059, USA.

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April 2005

Identification of novel proteinase K-resistant C-terminal fragments of PrP in Creutzfeldt-Jakob disease.

J Biol Chem 2003 Oct 12;278(42):40429-36. Epub 2003 Aug 12.

Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106, USA.

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http://dx.doi.org/10.1074/jbc.M308550200DOI Listing
October 2003

Mechanisms of phenotypic heterogeneity in prion, Alzheimer and other conformational diseases.

J Alzheimers Dis 2001 Feb;3(1):87-95

Institute of Pathology, Case Western Reserve University, Cleveland, OH 44106, USA.

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February 2001

The Thr183Ala Mutation, Not the Loss of the First Glycosylation Site, Alters the Physical Properties of the Prion Protein.

J Alzheimers Dis 2000 Mar;2(1):27-35

Institute of Pathology, Case Western Reserve University, Cleveland, OH 44106-2622, USA.

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March 2000