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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A… See abstract for full author list ➔ van Rheenen W, et al. Among authors: padovani a. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455348 Free PMC article.
Limb-girdle muscular dystrophy-associated protein diseases.
Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, Padovani A, Filosto M. Broglio L, et al. Among authors: padovani a. Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39. Neurologist. 2010. PMID: 21150381 Review.
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype.
Borroni B, Cotelli MS, Marchina E, Filosto M, Premi E, Padovani A. Borroni B, et al. Among authors: padovani a. Clin Neurol Neurosurg. 2013 Oct;115(10):2217-8. doi: 10.1016/j.clineuro.2013.06.020. Epub 2013 Jul 27. Clin Neurol Neurosurg. 2013. PMID: 23895867 No abstract available.
C9orf72 repeat expansions are restricted to the ALS-FTD spectrum.
Ticozzi N, Tiloca C, Calini D, Gagliardi S, Altieri A, Colombrita C, Cereda C, Ratti A, Pezzoli G, Borroni B, Goldwurm S, Padovani A, Silani V. Ticozzi N, et al. Among authors: padovani a. Neurobiol Aging. 2014 Apr;35(4):936.e13-7. doi: 10.1016/j.neurobiolaging.2013.09.037. Epub 2013 Oct 2. Neurobiol Aging. 2014. PMID: 24169076
Physical activity and amyotrophic lateral sclerosis: a European population-based case-control study.
Pupillo E, Messina P, Giussani G, Logroscino G, Zoccolella S, Chiò A, Calvo A, Corbo M, Lunetta C, Marin B, Mitchell D, Hardiman O, Rooney J, Stevic Z, Bandettini di Poggio M, Filosto M, Cotelli MS, Perini M, Riva N, Tremolizzo L, Vitelli E, Damiani D, Beghi E; EURALS Consortium. Pupillo E, et al. Ann Neurol. 2014 May;75(5):708-16. doi: 10.1002/ana.24150. Epub 2014 May 21. Ann Neurol. 2014. PMID: 24706338 Clinical Trial.
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matěj R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernández I, Boada M, Ruiz A, de Mendonça A, Miltenberger-Miltényi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schöls L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimón J, Lleó A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Ströbel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C. van der Zee J, et al. Among authors: padovani a. Acta Neuropathol. 2014 Sep;128(3):397-410. doi: 10.1007/s00401-014-1298-7. Epub 2014 Jun 5. Acta Neuropathol. 2014. PMID: 24899140 Free PMC article.
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