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341 results

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Page 1
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
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Crippa F, et al. Among authors: pandolfo m. Arch Neurol. 2006 May;63(5):750-5. doi: 10.1001/archneur.63.5.750. Arch Neurol. 2006. PMID: 16682546
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
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.
Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B. Hedera P, et al. Among authors: pandolfo m. Neurology. 2007 Jun 12;68(24):2107-12. doi: 10.1212/01.wnl.0000261246.75977.89. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377072
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AMW, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJJ, Andermann E. Jansen AC, et al. Among authors: pandolfo m. Ann Neurol. 2006 Nov;60(5):528-539. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248
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
341 results