Galbiati S - Search Results

1

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: galbiati s. Arch Neurol. 2006 May;63(5):750-5. doi: 10.1001/archneur.63.5.750. Arch Neurol. 2006. PMID: 16682546

2

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. Among authors: galbiati s. Hum Mutat. 2002 Nov;20(5):409. doi: 10.1002/humu.9079. Hum Mutat. 2002. PMID: 12402350

3

Cytochrome c oxidase deficiency.

Comi GP, Strazzer S, Galbiati S, Bresolin N. Comi GP, et al. Among authors: galbiati s. 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.

4

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP. Crimi M, et al. Among authors: galbiati s. Neurology. 2003 Jun 10;60(11):1857-61. doi: 10.1212/01.wnl.0000066048.72780.69. Neurology. 2003. PMID: 12796552

5

Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.

Crimi M, Del Bo R, Galbiati S, Sciacco M, Bordoni A, Bresolin N, Comi GP. Crimi M, et al. Among authors: galbiati s. Eur J Hum Genet. 2003 Nov;11(11):896-8. doi: 10.1038/sj.ejhg.5201056. Eur J Hum Genet. 2003. PMID: 14571278

6

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

Crimi M, Papadimitriou A, Galbiati S, Palamidou P, Fortunato F, Bordoni A, Papandreou U, Papadimitriou D, Hadjigeorgiou GM, Drogari E, Bresolin N, Comi GP. Crimi M, et al. Among authors: galbiati s. Pediatr Res. 2004 May;55(5):842-6. doi: 10.1203/01.PDR.0000117844.73436.68. Epub 2004 Feb 5. Pediatr Res. 2004. PMID: 14764913

7

Skeletal muscle gene expression profiling in mitochondrial disorders.

Crimi M, Bordoni A, Menozzi G, Riva L, Fortunato F, Galbiati S, Del Bo R, Pozzoli U, Bresolin N, Comi GP. Crimi M, et al. Among authors: galbiati s. FASEB J. 2005 May;19(7):866-8. doi: 10.1096/fj.04-3045fje. Epub 2005 Feb 23. FASEB J. 2005. PMID: 15728662

8

Vascular endothelial growth factor gene variability is associated with increased risk for AD.

Del Bo R, Scarlato M, Ghezzi S, Martinelli Boneschi F, Fenoglio C, Galbiati S, Virgilio R, Galimberti D, Galimberti G, Crimi M, Ferrarese C, Scarpini E, Bresolin N, Comi GP. Del Bo R, et al. Among authors: galbiati s. Ann Neurol. 2005 Mar;57(3):373-80. doi: 10.1002/ana.20390. Ann Neurol. 2005. PMID: 15732116

9

Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis.

Del Bo R, Scarlato M, Ghezzi S, Martinelli-Boneschi F, Fenoglio C, Galimberti G, Galbiati S, Virgilio R, Galimberti D, Ferrarese C, Scarpini E, Bresolin N, Comi GP. Del Bo R, et al. Among authors: galbiati s. Neurobiol Aging. 2006 May;27(5):770.e1-770.e5. doi: 10.1016/j.neurobiolaging.2005.05.025. Epub 2005 Aug 15. Neurobiol Aging. 2006. PMID: 16099550

10

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases.

Crimi M, Galbiati S, Sciacco M, Bordoni A, Natali MG, Raimondi M, Bresolin N, Comi GP. Crimi M, et al. Among authors: galbiati s. Mitochondrion. 2004 Apr;3(5):279-83. doi: 10.1016/j.mito.2004.02.004. Mitochondrion. 2004. PMID: 16120360

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