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Cytochrome c oxidase deficiency.
Comi GP, Strazzer S, Galbiati S, Bresolin N. Comi GP, et al. Int Rev Neurobiol. 2002;53:205-40. doi: 10.1016/s0074-7742(02)53009-9. Int Rev Neurobiol. 2002. PMID: 12512342 Review. No abstract available.
Metabolic and drug-induced muscle disorders.
Scarlato G, Comi GP. Scarlato G, et al. Curr Opin Neurol. 2002 Oct;15(5):533-8. doi: 10.1097/00019052-200210000-00003. Curr Opin Neurol. 2002. PMID: 12351996 Review.
A collection of 33 novel human mtDNA homoplasmic variants.
Crimi M, Sciacco M, Galbiati S, Bordoni A, Malferrari G, Del Bo R, Biunno I, Bresolin N, Comi GP. Crimi M, et al. Hum Mutat. 2002 Nov;20(5):409. doi: 10.1002/humu.9079. Hum Mutat. 2002. PMID: 12402350
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP. Di Fonzo A, et al. Hum Mutat. 2003 Dec;22(6):498-9. doi: 10.1002/humu.9203. Hum Mutat. 2003. PMID: 14635118
Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients.
Guidi I, Galimberti D, Venturelli E, Lovati C, Del Bo R, Fenoglio C, Gatti A, Dominici R, Galbiati S, Virgilio R, Pomati S, Comi GP, Mariani C, Forloni G, Bresolin N, Scarpini E. Guidi I, et al. Neurobiol Aging. 2005 Jun;26(6):789-94. doi: 10.1016/j.neurobiolaging.2004.07.003. Neurobiol Aging. 2005. PMID: 15718036 Clinical Trial.
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.
Sciacco M, Prelle A, Fagiolari G, Bordoni A, Crimi M, Di Fonzo A, Ciscato P, Lamperti C, D'Adda E, Jann S, Bresolin N, Comi GP, Moggio M. Sciacco M, et al. J Neurol Sci. 2005 Dec 15;239(1):21-4. doi: 10.1016/j.jns.2005.07.008. Epub 2005 Sep 15. J Neurol Sci. 2005. PMID: 16168441
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.
Bersano A, Del Bo R, Lamperti C, Ghezzi S, Fagiolari G, Fortunato F, Ballabio E, Moggio M, Candelise L, Galimberti D, Virgilio R, Lanfranconi S, Torrente Y, Carpo M, Bresolin N, Comi GP, Corti S. Bersano A, et al. Neurobiol Aging. 2009 May;30(5):752-8. doi: 10.1016/j.neurobiolaging.2007.08.009. Epub 2007 Sep 24. Neurobiol Aging. 2009. PMID: 17889967
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. J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575922
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.
Corti S, Donadoni C, Ronchi D, Bordoni A, Fortunato F, Santoro D, Del Bo R, Lucchini V, Crugnola V, Papadimitriou D, Salani S, Moggio M, Bresolin N, Comi GP. Corti S, et al. J Neurol Sci. 2009 Jan 15;276(1-2):170-4. doi: 10.1016/j.jns.2008.09.030. Epub 2008 Nov 8. J Neurol Sci. 2009. PMID: 19000626
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