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Page 1
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Courage C, et al. Among authors: uccellini d. Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013. Am J Hum Genet. 2021. PMID: 33798445 Free PMC article.
Myoclonus in genetic Alzheimer's disease due to presenilin-1 mutation.
Uccellini D, Canafoglia L, Franceschetti S, Stabile A, Catania M, Tagliavini F, Giaccone G, Di Fede G. Uccellini D, et al. Clin Neurophysiol. 2023 Dec;156:86-88. doi: 10.1016/j.clinph.2023.10.002. Epub 2023 Oct 16. Clin Neurophysiol. 2023. PMID: 37897907 No abstract available.
The role of clinical and neuroimaging features in the diagnosis of CADASIL.
Bersano A, Bedini G, Markus HS, Vitali P, Colli-Tibaldi E, Taroni F, Gellera C, Baratta S, Mosca L, Carrera P, Ferrari M, Cereda C, Grieco G, Lanfranconi S, Mazucchelli F, Zarcone D, De Lodovici ML, Bono G, Boncoraglio GB, Parati EA, Calloni MV, Perrone P, Bordo BM, Motto C, Agostoni E, Pezzini A, Padovani A, Micieli G, Cavallini A, Molini G, Sasanelli F, Sessa M, Comi G, Checcarelli N, Carmerlingo M, Corato M, Marcheselli S, Fusi L, Grampa G, Uccellini D, Beretta S, Ferrarese C, Incorvaia B, Tadeo CS, Adobbati L, Silani V, Faragò G, Trobia N, Grond-Ginsbach C, Candelise L; Lombardia GENS-group. Bersano A, et al. Among authors: uccellini d. J Neurol. 2018 Dec;265(12):2934-2943. doi: 10.1007/s00415-018-9072-8. Epub 2018 Oct 11. J Neurol. 2018. PMID: 30311053
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.
Bersano A, Markus HS, Quaglini S, Arbustini E, Lanfranconi S, Micieli G, Boncoraglio GB, Taroni F, Gellera C, Baratta S, Penco S, Mosca L, Grasso M, Carrera P, Ferrari M, Cereda C, Grieco G, Corti S, Ronchi D, Bassi MT, Obici L, Parati EA, Pezzini A, De Lodovici ML, Verrengia EP, Bono G, Mazucchelli F, Zarcone D, Calloni MV, Perrone P, Bordo BM, Colombo A, Padovani A, Cavallini A, Beretta S, Ferrarese C, Motto C, Agostoni E, Molini G, Sasanelli F, Corato M, Marcheselli S, Sessa M, Comi G, Checcarelli N, Guidotti M, Uccellini D, Capitani E, Tancredi L, Arnaboldi M, Incorvaia B, Tadeo CS, Fusi L, Grampa G, Merlini G, Trobia N, Comi GP, Braga M, Vitali P, Baron P, Grond-Ginsbach C, Candelise L; Lombardia GENS Group*. Bersano A, et al. Among authors: uccellini d. Stroke. 2016 Jul;47(7):1702-9. doi: 10.1161/STROKEAHA.115.012281. Epub 2016 May 31. Stroke. 2016. PMID: 27245348
Time to hospital admission and start of treatment in patients with ischemic stroke in northern Italy and predictors of delay.
Vidale S, Beghi E, Gerardi F, De Piazza C, Proserpio S, Arnaboldi M, Bezzi G, Bono G, Grampa G, Guidotti M, Perrone P, Porazzi D, Zarcone D, Zoli A, Agostoni E; Northern Lombardy Emergency Stroke Study Group. Vidale S, et al. Eur Neurol. 2013;70(5-6):349-55. doi: 10.1159/000353300. Epub 2013 Nov 26. Eur Neurol. 2013. PMID: 24296825
Intensive rehabilitation increases BDNF serum levels in parkinsonian patients: a randomized study.
Frazzitta G, Maestri R, Ghilardi MF, Riboldazzi G, Perini M, Bertotti G, Boveri N, Buttini S, Lombino FL, Uccellini D, Turla M, Pezzoli G, Comi C. Frazzitta G, et al. Among authors: uccellini d. Neurorehabil Neural Repair. 2014 Feb;28(2):163-8. doi: 10.1177/1545968313508474. Epub 2013 Nov 8. Neurorehabil Neural Repair. 2014. PMID: 24213955 Clinical Trial.
Effectiveness of intensive inpatient rehabilitation treatment on disease progression in parkinsonian patients: a randomized controlled trial with 1-year follow-up.
Frazzitta G, Bertotti G, Riboldazzi G, Turla M, Uccellini D, Boveri N, Guaglio G, Perini M, Comi C, Balbi P, Maestri R. Frazzitta G, et al. Among authors: uccellini d. Neurorehabil Neural Repair. 2012 Feb;26(2):144-50. doi: 10.1177/1545968311416990. Epub 2011 Aug 15. Neurorehabil Neural Repair. 2012. PMID: 21844282 Clinical Trial.
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