Comi GP - Search Results

1

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients.

Del Bo R, Bordoni A, Martinelli Boneschi F, Crimi M, Sciacco M, Bresolin N, Scarlato G, Comi GP. Del Bo R, et al. Among authors: comi gp. J Neurol Sci. 2002 Oct 15;202(1-2):85-91. doi: 10.1016/s0022-510x(02)00247-2. J Neurol Sci. 2002. PMID: 12220698

2

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. Among authors: comi gp. Hum Mutat. 2003 Dec;22(6):498-9. doi: 10.1002/humu.9203. Hum Mutat. 2003. PMID: 14635118

3

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. Among authors: comi gp. 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

4

New mutations in TK2 gene associated with mitochondrial DNA depletion.

Galbiati S, Bordoni A, Papadimitriou D, Toscano A, Rodolico C, Katsarou E, Sciacco M, Garufi A, Prelle A, Aguennouz M', Bonsignore M, Crimi M, Martinuzzi A, Bresolin N, Papadimitriou A, Comi GP. Galbiati S, et al. Among authors: comi gp. Pediatr Neurol. 2006 Mar;34(3):177-85. doi: 10.1016/j.pediatrneurol.2005.07.013. Pediatr Neurol. 2006. PMID: 16504786

5

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. Among authors: comi gp. 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

6

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.

Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP. Virgilio R, et al. Among authors: comi gp. J Neurol Sci. 2009 Jun 15;281(1-2):85-92. doi: 10.1016/j.jns.2009.01.025. Epub 2009 Mar 10. J Neurol Sci. 2009. PMID: 19278689 Review.

7

The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment.

Ronchi D, Virgilio R, Bordoni A, Fassone E, Sciacco M, Ciscato P, Moggio M, Govoni A, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: comi gp. J Neurol Sci. 2010 May 15;292(1-2):107-10. doi: 10.1016/j.jns.2010.01.026. Epub 2010 Feb 18. J Neurol Sci. 2010. PMID: 20163808

8

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: comi gp. J Neurol Sci. 2011 Sep 15;308(1-2):173-6. doi: 10.1016/j.jns.2011.05.042. J Neurol Sci. 2011. PMID: 21689831 Free PMC article.

9

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

Ranieri M, Del Bo R, Bordoni A, Ronchi D, Colombo I, Riboldi G, Cosi A, Servida M, Magri F, Moggio M, Bresolin N, Comi GP, Corti S. Ranieri M, et al. Among authors: comi gp. J Neurol Sci. 2012 Apr 15;315(1-2):146-9. doi: 10.1016/j.jns.2011.12.002. Epub 2011 Dec 22. J Neurol Sci. 2012. PMID: 22197506 Free PMC article.

10

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: comi gp. Hum Mutat. 2002 Nov;20(5):409. doi: 10.1002/humu.9079. Hum Mutat. 2002. PMID: 12402350

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