Di Fonzo A - Search Results

1

Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review.

Arienti F, Lazzeri G, Vizziello M, Monfrini E, Bresolin N, Saetti MC, Picillo M, Franco G, Di Fonzo A. Arienti F, et al. Among authors: di fonzo a. Cells. 2021 Jan 15;10(1):171. doi: 10.3390/cells10010171. Cells. 2021. PMID: 33467748 Free PMC article.

2

Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.

Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP. Del Bo R, et al. Among authors: di fonzo a. Neurology. 2003 Oct 14;61(7):903-8. doi: 10.1212/01.wnl.0000092303.13864.be. Neurology. 2003. PMID: 14557557

3

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

4

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: di fonzo a. 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

5

Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease.

Ghione I, Di Fonzo A, Saladino F, Del Bo R, Bresolin N, Comi GP, Rango M. Ghione I, et al. Among authors: di fonzo a. Neurotoxicology. 2007 May;28(3):698-701. doi: 10.1016/j.neuro.2007.01.004. Epub 2007 Jan 20. Neurotoxicology. 2007. PMID: 17335904

6

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

Del Bo R, Di Fonzo A, Ghezzi S, Locatelli F, Stevanin G, Costa A, Corti S, Bresolin N, Comi GP. Del Bo R, et al. Among authors: di fonzo a. Neurogenetics. 2007 Nov;8(4):301-5. doi: 10.1007/s10048-007-0095-z. Epub 2007 Aug 24. Neurogenetics. 2007. PMID: 17717710

7

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.

Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. Di Fonzo A, et al. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409522 Free PMC article.

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: di fonzo a. 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

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: di fonzo a. 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

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Ronchi D, Sciacco M, Bordoni A, Raimondi M, Ripolone M, Fassone E, Di Fonzo A, Rizzuti M, Ciscato P, Cosi A, Servida M, Moggio M, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: di fonzo a. Eur J Hum Genet. 2012 Mar;20(3):357-60. doi: 10.1038/ejhg.2011.238. Epub 2011 Dec 21. Eur J Hum Genet. 2012. PMID: 22189266 Free PMC article.

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