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Items: 1 to 50 of 116

1.

Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges.

Abu-Rumeileh S, Redaelli V, Baiardi S, Mackenzie G, Windl O, Ritchie DL, Didato G, Hernandez-Vara J, Rossi M, Capellari S, Imperiale D, Rizzone MG, Belotti A, Sorbi S, Rozemuller AJM, Cortelli P, Gelpi E, Will RG, Zerr I, Giaccone G, Parchi P.

Ann Neurol. 2018 Sep;84(3):347-360. doi: 10.1002/ana.25300. Epub 2018 Aug 31.

PMID:
30048013
2.

Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the CYP4X1 gene.

Poleggi A, van der Lee S, Capellari S, Puopolo M, Ladogana A, De Pascali E, Lia D, Formato A, Bartoletti-Stella A, Parchi P, van Duijn C, Pocchiari M.

J Neurol Neurosurg Psychiatry. 2018 Jul 21. pii: jnnp-2018-318756. doi: 10.1136/jnnp-2018-318756. [Epub ahead of print]

PMID:
30032116
3.

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

Baiardi S, Capellari S, Bartoletti Stella A, Parchi P.

J Alzheimers Dis. 2018;64(4):1051-1065. doi: 10.3233/JAD-180123.

PMID:
30010123
4.

A novel prion protein gene-truncating mutation causing autonomic neuropathy and diarrhea.

Bommarito G, Cellerino M, Prada V, Venturi C, Capellari S, Cortelli P, Mancardi GL, Parchi P, Schenone A.

Eur J Neurol. 2018 Aug;25(8):e91-e92. doi: 10.1111/ene.13665. No abstract available.

PMID:
29984897
5.

Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.

Capellari S, Baiardi S, Rinaldi R, Bartoletti-Stella A, Graziano C, Piras S, Calandra-Buonaura G, D'Angelo R, Terziotti C, Lodi R, Donadio V, Pironi L, Cortelli P, Parchi P.

Ann Clin Transl Neurol. 2018 Apr 26;5(6):777-783. doi: 10.1002/acn3.568. eCollection 2018 Jun.

6.

Cognitive Rehabilitation and Transcranial Direct Current Stimulation in a Patient with Posterior Cortical Atrophy: An fMRI Study.

Gramegna LL, Evangelisti S, Testa C, Baiardi S, Mitolo M, Capellari S, Stracciari A, Poda R, Di Stasi V, Cretella L, Lodi R, Tonon C, Liguori R.

Am J Case Rep. 2018 Jun 21;19:729-733. doi: 10.12659/AJCR.909167.

7.

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.

Quadri M, Mandemakers W, Grochowska MM, Masius R, Geut H, Fabrizio E, Breedveld GJ, Kuipers D, Minneboo M, Vergouw LJM, Carreras Mascaro A, Yonova-Doing E, Simons E, Zhao T, Di Fonzo AB, Chang HC, Parchi P, Melis M, Correia Guedes L, Criscuolo C, Thomas A, Brouwer RWW, Heijsman D, Ingrassia AMT, Calandra Buonaura G, Rood JP, Capellari S, Rozemuller AJ, Sarchioto M, Fen Chien H, Vanacore N, Olgiati S, Wu-Chou YH, Yeh TH, Boon AJW, Hoogers SE, Ghazvini M, IJpma AS, van IJcken WFJ, Onofrj M, Barone P, Nicholl DJ, Puschmann A, De Mari M, Kievit AJ, Barbosa E, De Michele G, Majoor-Krakauer D, van Swieten JC, de Jong FJ, Ferreira JJ, Cossu G, Lu CS, Meco G, Cortelli P, van de Berg WDJ, Bonifati V; International Parkinsonism Genetics Network.

Lancet Neurol. 2018 Jul;17(7):597-608. doi: 10.1016/S1474-4422(18)30179-0. Epub 2018 Jun 7.

PMID:
29887161
8.

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

Abu-Rumeileh S, Capellari S, Parchi P.

J Alzheimers Dis. 2018;63(3):887-897. doi: 10.3233/JAD-171181.

PMID:
29710713
9.

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

Bartoletti-Stella A, Baiardi S, Stanzani-Maserati M, Piras S, Caffarra P, Raggi A, Pantieri R, Baldassari S, Caporali L, Abu-Rumeileh S, Linarello S, Liguori R, Parchi P, Capellari S.

Neurobiol Aging. 2018 Jun;66:180.e23-180.e31. doi: 10.1016/j.neurobiolaging.2018.02.006. Epub 2018 Feb 13.

PMID:
29525180
10.

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

Giannoccaro MP, Bartoletti-Stella A, Piras S, Casalena A, Oppi F, Ambrosetto G, Montagna P, Liguori R, Parchi P, Capellari S.

J Alzheimers Dis. 2018;62(2):687-697. doi: 10.3233/JAD-170913.

PMID:
29480190
11.

Human figure drawing distinguishes Alzheimer's patients: a cognitive screening test study.

Stanzani Maserati M, D'Onofrio R, Matacena C, Sambati L, Oppi F, Poda R, De Matteis M, Naldi I, Liguori R, Capellari S.

Neurol Sci. 2018 May;39(5):851-855. doi: 10.1007/s10072-018-3288-3. Epub 2018 Feb 17.

PMID:
29455399
12.

An in vivo 11C-PK PET study of microglia activation in Fatal Familial Insomnia.

Iaccarino L, Presotto L, Bettinardi V, Gianolli L, Roiter I, Capellari S, Parchi P, Cortelli P, Perani D.

Ann Clin Transl Neurol. 2017 Dec 9;5(1):11-18. doi: 10.1002/acn3.498. eCollection 2018 Jan.

13.

The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias.

Abu-Rumeileh S, Capellari S, Stanzani-Maserati M, Polischi B, Martinelli P, Caroppo P, Ladogana A, Parchi P.

Alzheimers Res Ther. 2018 Jan 11;10(1):3. doi: 10.1186/s13195-017-0331-1.

14.

Regional pattern of microgliosis in sporadic Creutzfeldt-Jakob disease in relation to phenotypic variants and disease progression.

Franceschini A, Strammiello R, Capellari S, Giese A, Parchi P.

Neuropathol Appl Neurobiol. 2018 Oct;44(6):574-589. doi: 10.1111/nan.12461. Epub 2018 Feb 26.

PMID:
29345730
15.

Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).

Lo Martire V, Alvente S, Bastianini S, Berteotti C, Bombardi C, Calandra-Buonaura G, Capellari S, Cohen G, Cortelli P, Gasparini L, Padiath Q, Valli A, Zoccoli G, Silvani A.

Exp Neurol. 2018 Mar;301(Pt A):1-12. doi: 10.1016/j.expneurol.2017.12.006. Epub 2017 Dec 17.

PMID:
29262292
16.

Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature.

Rossi M, Saverioni D, Di Bari M, Baiardi S, Lemstra AW, Pirisinu L, Capellari S, Rozemuller A, Nonno R, Parchi P.

Acta Neuropathol Commun. 2017 Nov 23;5(1):87. doi: 10.1186/s40478-017-0496-7.

17.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225. No abstract available.

18.

High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.

Franceschini A, Baiardi S, Hughson AG, McKenzie N, Moda F, Rossi M, Capellari S, Green A, Giaccone G, Caughey B, Parchi P.

Sci Rep. 2017 Sep 6;7(1):10655. doi: 10.1038/s41598-017-10922-w.

19.

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

Baiardi S, Magherini A, Capellari S, Redaelli V, Ladogana A, Rossi M, Tagliavini F, Pocchiari M, Giaccone G, Parchi P.

J Neurol Neurosurg Psychiatry. 2017 Sep;88(9):764-772. doi: 10.1136/jnnp-2017-315942. Epub 2017 Jul 1.

PMID:
28668775
20.

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

Donadio V, Incensi A, Rizzo G, Capellari S, Pantieri R, Stanzani Maserati M, Devigili G, Eleopra R, Defazio G, Montini F, Baruzzi A, Liguori R.

Neurology. 2017 Jul 25;89(4):318-326. doi: 10.1212/WNL.0000000000004146. Epub 2017 Jun 30.

PMID:
28667178
21.

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

Giannoccaro MP, Bartoletti-Stella A, Piras S, Pession A, De Massis P, Oppi F, Stanzani-Maserati M, Pasini E, Baiardi S, Avoni P, Parchi P, Liguori R, Capellari S.

J Neurol. 2017 Jul;264(7):1426-1433. doi: 10.1007/s00415-017-8540-x. Epub 2017 Jun 15.

PMID:
28620717
22.

Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation.

Terlizzi R, Valentino ML, Bartoletti-Stella A, Columbaro M, Piras S, Stanzani-Maserati M, Quadri M, Breedveld GJ, Bonifati V, Martinelli P, Parchi P, Capellari S.

Mov Disord. 2017 Aug;32(8):1259-1260. doi: 10.1002/mds.27049. Epub 2017 May 22. No abstract available.

PMID:
28543767
23.

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

Donadio V, Incensi A, Rizzo G, Scaglione C, Capellari S, Fileccia E, Avoni P, Liguori R.

J Neuropathol Exp Neurol. 2017 May 1;76(5):384-389. doi: 10.1093/jnen/nlx021.

PMID:
28402459
24.

Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels.

Lattanzio F, Abu-Rumeileh S, Franceschini A, Kai H, Amore G, Poggiolini I, Rossi M, Baiardi S, McGuire L, Ladogana A, Pocchiari M, Green A, Capellari S, Parchi P.

Acta Neuropathol. 2017 Apr;133(4):559-578. doi: 10.1007/s00401-017-1683-0. Epub 2017 Feb 15.

25.

Genomics and epigenomics.

Garagnani P, Terlizzi R, Cevoli S, Capellari S, Pierangeli G, Pirazzini C, Bacalini MG, Franceschi C, Cortelli P.

J Headache Pain. 2015 Dec;16(Suppl 1):A7. doi: 10.1186/1129-2377-16-S1-A7. No abstract available.

26.
27.

Patient with rapidly evolving neurological disease with neuropathological lesions of Creutzfeldt-Jakob disease, Lewy body dementia, chronic subcortical vascular encephalopathy and meningothelial meningioma.

Vita MG, Tiple D, Bizzarro A, Ladogana A, Colaizzo E, Capellari S, Rossi M, Parchi P, Masullo C, Pocchiari M.

Neuropathology. 2017 Apr;37(2):110-115. doi: 10.1111/neup.12343. Epub 2016 Sep 16.

PMID:
27634418
28.

Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency.

Donadio V, Liguori R, Incensi A, Chiaro G, Bartoletti-Stella A, Capellari S, Cortelli P.

Auton Neurosci. 2016 May;197:56-9. doi: 10.1016/j.autneu.2016.05.004. Epub 2016 May 21.

PMID:
27237083
29.

Analysis of Conformational Stability of Abnormal Prion Protein Aggregates across the Spectrum of Creutzfeldt-Jakob Disease Prions.

Cescatti M, Saverioni D, Capellari S, Tagliavini F, Kitamoto T, Ironside J, Giese A, Parchi P.

J Virol. 2016 Jun 24;90(14):6244-6254. doi: 10.1128/JVI.00144-16. Print 2016 Jul 15.

30.

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

Terlizzi R, Calandra-Buonaura G, Zanigni S, Barletta G, Capellari S, Guaraldi P, Donadio V, Cason E, Contin M, Poda R, Tonon C, Sambati L, Gallassi R, Liguori R, Lodi R, Cortelli P.

Auton Neurosci. 2016 Feb;195:20-6. doi: 10.1016/j.autneu.2016.02.005. Epub 2016 Feb 8.

PMID:
26896090
31.

Quantifying prion disease penetrance using large population control cohorts.

Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC), Daly MJ, MacArthur DG.

Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169.

32.

Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory Findings.

Baiardi S, Capellari S, Ladogana A, Strumia S, Santangelo M, Pocchiari M, Parchi P.

J Alzheimers Dis. 2016;50(2):465-76. doi: 10.3233/JAD-150668.

33.

Behçet disease presenting with movement disorders and antibasal ganglia antibodies.

Rizzo G, Licchetta L, Scaglione C, Buttiglione M, Capellari S, Martinelli P, Martino D.

Autoimmun Rev. 2016 Mar;15(3):287-8. doi: 10.1016/j.autrev.2015.11.011. Epub 2015 Nov 27. No abstract available.

PMID:
26640160
34.

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

Calandra-Buonaura G, Doria A, Lopane G, Guaraldi P, Capellari S, Martinelli P, Cortelli P, Contin M.

J Neurol. 2016 Feb;263(2):250-256. doi: 10.1007/s00415-015-7961-7. Epub 2015 Nov 14.

PMID:
26566913
35.

A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia.

Bartoletti-Stella A, Chiaro G, Calandra-Buonaura G, Contin M, Scaglione C, Barletta G, Cecere A, Garagnani P, Tieri P, Ferrarini A, Piras S, Franceschi C, Delledonne M, Cortelli P, Capellari S.

J Neurol. 2015 Oct;262(10):2373-81. doi: 10.1007/s00415-015-7896-z. Epub 2015 Sep 26.

PMID:
26410747
36.

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

Zanigni S, Terlizzi R, Tonon C, Testa C, Manners DN, Capellari S, Gallassi R, Poda R, Gramegna LL, Calandra-Buonaura G, Sambati L, Cortelli P, Lodi R.

Brain Res Bull. 2015 Aug;117:24-31. doi: 10.1016/j.brainresbull.2015.07.002. Epub 2015 Jul 17.

PMID:
26189928
37.

Pterandric acid--its isolation, synthesis and stereochemistry.

Haleem MA, Capellari SC, Sympson BB, Marsaioli AJ.

Nat Prod Commun. 2015 Jan;10(1):99-102.

PMID:
25920229
38.

Skin biopsy and I-123 MIBG scintigraphy findings in idiopathic Parkinson's disease and parkinsonism: a comparative study.

Giannoccaro MP, Donadio V, Incensi A, Pizza F, Cason E, Di Stasi V, Martinelli P, Scaglione C, Capellari S, Treglia G, Liguori R.

Mov Disord. 2015 Jun;30(7):986-9. doi: 10.1002/mds.26189. Epub 2015 Mar 17.

PMID:
25778097
39.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30. Erratum in: Hum Mol Genet. 2017 Oct 1;26(19):3868.

40.

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

Cardone F, Principe S, Schininà ME, Maras B, Capellari S, Parchi P, Notari S, Di Francesco L, Poleggi A, Galeno R, Vinci R, Mellina V, Almonti S, Ladogana A, Pocchiari M.

Biochem Biophys Res Commun. 2014 Nov 14;454(2):289-94. doi: 10.1016/j.bbrc.2014.10.051. Epub 2014 Oct 19.

PMID:
25450391
41.

Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

Antelmi E, Rizzo G, Fabbri M, Capellari S, Scaglione C, Martinelli P.

J Neurol. 2014 Sep;261(9):1803-9. doi: 10.1007/s00415-014-7425-5. Epub 2014 Jul 3. Erratum in: J Neurol. 2014 Sep;261(9):1810.

PMID:
24989669
42.

Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts.

Ferrera D, Canale C, Marotta R, Mazzaro N, Gritti M, Mazzanti M, Capellari S, Cortelli P, Gasparini L.

FASEB J. 2014 Sep;28(9):3906-18. doi: 10.1096/fj.13-247635. Epub 2014 May 22.

43.

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

Donadio V, Incensi A, Leta V, Giannoccaro MP, Scaglione C, Martinelli P, Capellari S, Avoni P, Baruzzi A, Liguori R.

Neurology. 2014 Apr 15;82(15):1362-9. doi: 10.1212/WNL.0000000000000316. Epub 2014 Mar 14.

PMID:
24634456
44.

Gait disorders in fatal familial insomnia.

Cortelli P, Fabbri M, Calandra-Buonaura G, Capellari S, Tinuper P, Parchi P, Lugaresi E.

Mov Disord. 2014 Mar;29(3):420-4. doi: 10.1002/mds.25786. Epub 2013 Dec 27.

PMID:
24375448
45.

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

Vita MG, Gaudino S, Di Giuda D, Sauchelli D, Alboini PE, Gangemi E, Bizzarro A, Scaricamazza E, Capellari S, Parchi P, Masullo C.

J Neurol. 2013 Oct;260(10):2650-2. doi: 10.1007/s00415-013-7078-9. Epub 2013 Aug 25. No abstract available. Erratum in: J 2013 Dec;260(12):3199.

PMID:
23979103
46.

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

Saverioni D, Notari S, Capellari S, Poggiolini I, Giese A, Kretzschmar HA, Parchi P.

J Biol Chem. 2013 Sep 27;288(39):27972-85. doi: 10.1074/jbc.M113.477547. Epub 2013 Jul 29.

47.

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS.

Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Erratum in: Hum Mutat. 2014 Jan;35(1):149.

48.

Prion disease: diagnostic value of cerebrospinal fluid markers.

Parchi P, Capellari S.

Nat Rev Neurol. 2013 Jan;9(1):10-1. doi: 10.1038/nrneurol.2012.253. Epub 2012 Dec 4. No abstract available.

PMID:
23208112
49.

Neurosyphilis orofacial dyskinesia: the candy sign.

Martinelli P, Rizzo G, Scaglione C, Capellari S.

Mov Disord. 2013 Feb;28(2):246-7. doi: 10.1002/mds.25281. Epub 2012 Nov 19. No abstract available.

PMID:
23166011
50.

Nuclear lamins: functions and clinical implications.

Cortelli P, Terlizzi R, Capellari S, Benarroch E.

Neurology. 2012 Oct 16;79(16):1726-31. doi: 10.1212/WNL.0b013e31826ea887. Review. No abstract available.

PMID:
23071165

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