Comi GP - Search Results

1

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.

2

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

3

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

4

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.

5

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

6

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.

7

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.

Ulzi G, Lecchi M, Sansone V, Redaelli E, Corti E, Saccomanno D, Pagliarani S, Corti S, Magri F, Raimondi M, D'Angelo G, Modoni A, Bresolin N, Meola G, Wanke E, Comi GP, Lucchiari S. Ulzi G, et al. Among authors: comi gp. J Neurol Sci. 2012 Jul 15;318(1-2):65-71. doi: 10.1016/j.jns.2012.03.024. Epub 2012 Apr 21. J Neurol Sci. 2012. PMID: 22521272

8

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

Stuppia G, Rizzo F, Riboldi G, Del Bo R, Nizzardo M, Simone C, Comi GP, Bresolin N, Corti S. Stuppia G, et al. Among authors: comi gp. J Neurol Sci. 2015 Sep 15;356(1-2):7-18. doi: 10.1016/j.jns.2015.05.033. Epub 2015 May 29. J Neurol Sci. 2015. PMID: 26143526 Review.

9

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, Servida M, Sciacco M, Collotta M, Ronzoni M, Lucchini V, Mattioli M, Moggio M, Bresolin N, Corti S, Comi GP. Ronchi D, et al. Among authors: comi gp. Biochem Biophys Res Commun. 2011 Aug 26;412(2):245-8. doi: 10.1016/j.bbrc.2011.07.076. Epub 2011 Jul 27. Biochem Biophys Res Commun. 2011. PMID: 21819970

10

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

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