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TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.
Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, Santoro D, Ghione I, Prelle A, Orsetti V, Mancuso M, Sorarù G, Briani C, Angelini C, Siciliano G, Bresolin N, Comi GP. Del Bo R, et al. Among authors: pandolfo m. Eur J Neurol. 2009 Jun;16(6):727-32. doi: 10.1111/j.1468-1331.2009.02574.x. Epub 2009 Feb 19. Eur J Neurol. 2009. PMID: 19236453
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu YH, Ptácek L. Bruno MK, et al. Among authors: pandolfo m. Neurology. 2007 May 22;68(21):1782-9. doi: 10.1212/01.wnl.0000262029.91552.e0. Neurology. 2007. PMID: 17515540
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, St Hilaire JM, Kwiecinski H, Andermann E, Pandolfo M. D'Agostino D, et al. Among authors: pandolfo m. Neurology. 2004 Oct 26;63(8):1500-2. doi: 10.1212/01.wnl.0000142093.94998.1a. Neurology. 2004. PMID: 15505175
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M. Cossée M, et al. Among authors: pandolfo m. Ann Neurol. 1999 Feb;45(2):200-6. doi: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. Ann Neurol. 1999. PMID: 9989622
Quantifiable evaluation of cerebellar signs in children.
Filipovic Pierucci A, Mariotti C, Panzeri M, Giunti P, Boesch S, Schulz JB, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS Study Group. Filipovic Pierucci A, et al. Among authors: pandolfo m. Neurology. 2015 Mar 24;84(12):1225-32. doi: 10.1212/WNL.0000000000001403. Epub 2015 Feb 25. Neurology. 2015. PMID: 25716360
344 results