Di Fonzo A - Search Results

1

TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.

Percetti M, Franco G, Monfrini E, Caporali L, Minardi R, La Morgia C, Valentino ML, Liguori R, Palmieri I, Ottaviani D, Vizziello M, Ronchi D, Di Berardino F, Cocco A, Macao B, Falkenberg M, Comi GP, Albanese A, Giometto B, Valente EM, Carelli V, Di Fonzo A. Percetti M, et al. Among authors: di fonzo a, di berardino f. Mov Disord. 2022 Sep;37(9):1938-1943. doi: 10.1002/mds.29139. Epub 2022 Jul 6. Mov Disord. 2022. PMID: 35792653 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

Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation.

Isaias IU, Benti R, Goldwurm S, Zini M, Cilia R, Gerundini P, Di Fonzo A, Bonifati V, Pezzoli G, Antonini A. Isaias IU, et al. Among authors: di fonzo a. Mov Disord. 2006 Aug;21(8):1144-7. doi: 10.1002/mds.20909. Mov Disord. 2006. PMID: 16671078

6

Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation.

Giordana MT, D'Agostino C, Albani G, Mauro A, Di Fonzo A, Antonini A, Bonifati V. Giordana MT, et al. Among authors: di fonzo a. Mov Disord. 2007 Jan 15;22(2):275-8. doi: 10.1002/mds.21281. Mov Disord. 2007. PMID: 17149743

7

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

8

High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.

Ferreira JJ, Guedes LC, Rosa MM, Coelho M, van Doeselaar M, Schweiger D, Di Fonzo A, Oostra BA, Sampaio C, Bonifati V. Ferreira JJ, et al. Among authors: di fonzo a. Mov Disord. 2007 Jun 15;22(8):1194-201. doi: 10.1002/mds.21525. Mov Disord. 2007. PMID: 17469194

9

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

10

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.

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