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Page 1
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. Quadri M, et al. Lancet Neurol. 2018 Jul;17(7):597-608. doi: 10.1016/S1474-4422(18)30179-0. Epub 2018 Jun 7. Lancet Neurol. 2018. PMID: 29887161
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatà S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER; International Parkinsonism Genetics Network; Oostra BA, Barone P, Wang J, Bonifati V. Quadri M, et al. Hum Mutat. 2013 Sep;34(9):1208-15. doi: 10.1002/humu.22373. Epub 2013 Aug 6. Hum Mutat. 2013. PMID: 23804577
Validation of the Italian version of the Movement Disorder Society--Unified Parkinson's Disease Rating Scale.
Antonini A, Abbruzzese G, Ferini-Strambi L, Tilley B, Huang J, Stebbins GT, Goetz CG, Barone P; MDS-UPDRS Italian Validation Study Group; Bandettini di Poggio M, Fabbrini G, Di Stasio F, Tinazzi M, Bovi T, Ramat S, Meoni S, Pezzoli G, Canesi M, Martinelli P, Maria Scaglione CL, Rossi A, Tambasco N, Santangelo G, Picillo M, Morgante L, Morgante F, Quatrale R, Sensi M, Pilleri M, Biundo R, Nordera G, Caria A, Pacchetti C, Zangaglia R, Lopiano L, Zibetti M, Zappia M, Nicoletti A, Quattrone A, Salsone M, Cossu G, Murgia D, Albanese A, Del Sorbo F. Antonini A, et al. Among authors: pacchetti c. Neurol Sci. 2013 May;34(5):683-7. doi: 10.1007/s10072-012-1112-z. Epub 2012 Jun 8. Neurol Sci. 2013. PMID: 22678179 Free article.
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ; Netherlands Brain Bank; Bakker EB; International Parkinsonism Genetics Network; Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J. Wong TH, et al. Brain. 2014 May;137(Pt 5):1361-73. doi: 10.1093/brain/awu067. Epub 2014 Apr 9. Brain. 2014. PMID: 24722252
Safety and efficacy of continuous subcutaneous levodopa-carbidopa infusion (ND0612) for Parkinson's disease with motor fluctuations (BouNDless): a phase 3, randomised, double-blind, double-dummy, multicentre trial.
Espay AJ, Stocchi F, Pahwa R, Albanese A, Ellenbogen A, Ferreira JJ, Giladi N, Gurevich T, Hassin-Baer S, Hernandez-Vara J, Isaacson SH, Kieburtz K, LeWitt PA, Lopez-Manzanares L, Olanow CW, Poewe W, Sarva H, Yardeni T, Adar L, Salin L, Lopes N, Sasson N, Case R, Rascol O; BouNDless Study Group. Espay AJ, et al. Lancet Neurol. 2024 May;23(5):465-476. doi: 10.1016/S1474-4422(24)00052-8. Epub 2024 Mar 15. Lancet Neurol. 2024. PMID: 38499015 Clinical Trial.
Clinical correlates of obstructive sleep apnoea in idiopathic normal pressure hydrocephalus.
Regalbuto S, Zangaglia R, Valentino F, Todisco M, Pacchetti C, Cotta Ramusino M, Mazzacane F, Picascia M, Arceri S, Malomo G, Capriglia E, Spelta L, Rubino A, Pisani A, Terzaghi M. Regalbuto S, et al. Among authors: pacchetti c. Eur J Neurol. 2024 Dec;31(12):e16448. doi: 10.1111/ene.16448. Epub 2024 Aug 29. Eur J Neurol. 2024. PMID: 39207116 Free PMC article.
Serum dysregulation of serine and glycine metabolism as predictive biomarker for cognitive decline in frail elderly subjects.
Imarisio A, Yahyavi I, Gasparri C, Hassan A, Avenali M, Di Maio A, Buongarzone G, Galandra C, Picascia M, Filosa A, Monti MC, Pacchetti C, Errico F, Rondanelli M, Usiello A, Valente EM. Imarisio A, et al. Among authors: pacchetti c. Transl Psychiatry. 2024 Jul 9;14(1):281. doi: 10.1038/s41398-024-02991-z. Transl Psychiatry. 2024. PMID: 38982054 Free PMC article.
180 results