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Page 1
Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study.
Picillo M, Ginevrino M, Dati G, Scannapieco S, Vallelunga A, Siano P, Volpe G, Ceravolo R, Nicoletti V, Cicero E, Nicoletti A, Zappia M, Peverelli S, Silani V, Pellecchia MT, Valente EM, Barone P. Picillo M, et al. Among authors: valente em. Parkinsonism Relat Disord. 2021 Mar;84:82-90. doi: 10.1016/j.parkreldis.2021.01.024. Epub 2021 Feb 2. Parkinsonism Relat Disord. 2021. PMID: 33601107
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian PD Study Group. Marongiu R, et al. Among authors: valente em. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. Hum Mutat. 2008. PMID: 18330912 Free article.
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes.
Fiorio M, Valente EM, Gambarin M, Bentivoglio AR, Ialongo T, Albanese A, Barone P, Pellecchia MT, Brancati F, Moretto G, Fiaschi A, Tinazzi M. Fiorio M, et al. Among authors: valente em. J Neurol. 2008 Sep;255(9):1372-7. doi: 10.1007/s00415-008-0923-6. Epub 2008 Jul 3. J Neurol. 2008. PMID: 18584234 Clinical Trial.
Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.
Ferraris A, Ialongo T, Passali GC, Pellecchia MT, Brusa L, Laruffa M, Guidubaldi A, Paludetti G, Albanese A, Barone P, Dallapiccola B, Valente EM, Bentivoglio AR. Ferraris A, et al. Among authors: valente em. Mov Disord. 2009 Dec 15;24(16):2350-7. doi: 10.1002/mds.22816. Mov Disord. 2009. PMID: 19890973
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM. Micalizzi A, et al. Among authors: valente em. Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2. Eur J Hum Genet. 2016. PMID: 26932191 Free PMC article.
Impulsive-compulsive behaviors in parkin-associated Parkinson disease.
Morgante F, Fasano A, Ginevrino M, Petrucci S, Ricciardi L, Bove F, Criscuolo C, Moccia M, De Rosa A, Sorbera C, Bentivoglio AR, Barone P, De Michele G, Pellecchia MT, Valente EM. Morgante F, et al. Among authors: valente em. Neurology. 2016 Oct 4;87(14):1436-1441. doi: 10.1212/WNL.0000000000003177. Epub 2016 Sep 2. Neurology. 2016. PMID: 27590295 Free PMC article.
DYT2 screening in early-onset isolated dystonia.
Carecchio M, Reale C, Invernizzi F, Monti V, Petrucci S, Ginevrino M, Morgante F, Zorzi G, Zibordi F, Bentivoglio AR, Valente EM, Nardocci N, Garavaglia B. Carecchio M, et al. Among authors: valente em. Eur J Paediatr Neurol. 2017 Mar;21(2):269-271. doi: 10.1016/j.ejpn.2016.10.001. Epub 2016 Oct 13. Eur J Paediatr Neurol. 2017. PMID: 27771228
378 results