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ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Trojsi F, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Riva N, Carrera P, Giannini F, Mandrioli J, Tanel R, Capasso M, Tremolizzo L, Battistini S, Murru MR, Origone P, Zollino M, Penco S; ITALSGEN consortium; SARDINIALS consortium; Mazzini L, D'Alfonso S, Restagno G, Brunetti M, Barberis M, Conforti FL. Chiò A, et al. Among authors: carrera p. Neurobiol Aging. 2016 Mar;39:218.e5-8. doi: 10.1016/j.neurobiolaging.2015.11.027. Epub 2015 Dec 8. Neurobiol Aging. 2016. PMID: 26733254 Free PMC article.
Familial hemiplegic migraine: a ion channel disorder.
Carrera P, Stenirri S, Ferrari M, Battistini S. Carrera P, et al. Brain Res Bull. 2001 Oct-Nov 1;56(3-4):239-41. doi: 10.1016/s0361-9230(01)00570-6. Brain Res Bull. 2001. PMID: 11719257 Review.
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.
Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, Causarano R, Casula M, Lando G, Patrosso MC, Caponnetto C, Origone P, Marocchi A, Del Corona A, Siciliano G, Carrera P, Mascia V, Giagheddu M, Carcassi C, Orrù S, Garrè C, Penco S. Battistini S, et al. Among authors: carrera p. J Neurol. 2005 Jul;252(7):782-8. doi: 10.1007/s00415-005-0742-y. Epub 2005 Mar 29. J Neurol. 2005. PMID: 15789135
Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.
Berdyński M, Kuźma-Kozakiewicz M, Ricci C, Kubiszewska J, Millecamps S, Salachas F, Łusakowska A, Carrera P, Meininger V, Battistini S, Kwieciński H, Zekanowski C. Berdyński M, et al. Among authors: carrera p. Amyotroph Lateral Scler. 2012 Jan;13(1):132-6. doi: 10.3109/17482968.2011.600316. Epub 2011 Aug 30. Amyotroph Lateral Scler. 2012. PMID: 21877919
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9. Neurobiol Aging. 2016. PMID: 27156075 Free PMC article.
Structural and functional brain signatures of C9orf72 in motor neuron disease.
Agosta F, Ferraro PM, Riva N, Spinelli EG, Domi T, Carrera P, Copetti M, Falzone Y, Ferrari M, Lunetta C, Comi G, Falini A, Quattrini A, Filippi M. Agosta F, et al. Among authors: carrera p. Neurobiol Aging. 2017 Sep;57:206-219. doi: 10.1016/j.neurobiolaging.2017.05.024. Epub 2017 Jun 6. Neurobiol Aging. 2017. PMID: 28666709
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
Pozzi L, Valenza F, Mosca L, Dal Mas A, Domi T, Romano A, Tarlarini C, Falzone YM, Tremolizzo L, Sorarù G, Cerri F, Ferraro PM, Basaia S, Agosta F, Fazio R, Comola M, Comi G, Ferrari M, Quattrini A, Lunetta C, Penco S, Bonanomi D, Carrera P, Riva N. Pozzi L, et al. Among authors: carrera p. J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):869-875. doi: 10.1136/jnnp-2017-316174. Epub 2017 Aug 19. J Neurol Neurosurg Psychiatry. 2017. PMID: 28822984 Free PMC article.
295 results