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594 results

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Page 1
Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.
Di Bella D, Pareyson D, Savoiardo M, Farina L, Ciano C, Caldarazzo S, Sagnelli A, Bonato S, Nava S, Bresolin N, Tedeschi G, Taroni F, Salsano E. Di Bella D, et al. Among authors: bresolin n. Neurology. 2014 Sep 23;83(13):1217-8. doi: 10.1212/WNL.0000000000000812. Epub 2014 Aug 15. Neurology. 2014. PMID: 25128180 Free article. No abstract available.
A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
Cagliani R, Bresolin N, Prelle A, Gallanti A, Fortunato F, Sironi M, Ciscato P, Fagiolari G, Bonato S, Galbiati S, Corti S, Lamperti C, Moggio M, Comi GP. Cagliani R, et al. Among authors: bresolin n. Neurology. 2003 Dec 9;61(11):1513-9. doi: 10.1212/01.wnl.0000097320.35982.03. Neurology. 2003. PMID: 14663034
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: bresolin n. Arch Neurol. 2006 May;63(5):750-5. doi: 10.1001/archneur.63.5.750. Arch Neurol. 2006. PMID: 16682546
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Virgilio R, et al. Among authors: bresolin n. J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575922
Gait pattern in Duchenne muscular dystrophy.
D'Angelo MG, Berti M, Piccinini L, Romei M, Guglieri M, Bonato S, Degrate A, Turconi AC, Bresolin N. D'Angelo MG, et al. Among authors: bresolin n. Gait Posture. 2009 Jan;29(1):36-41. doi: 10.1016/j.gaitpost.2008.06.002. Epub 2008 Jul 25. Gait Posture. 2009. PMID: 18656361
594 results