Comi GP - Search Results

1

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.

Sciacco M, Prelle A, D'Adda E, Lamperti C, Bordoni A, Rango M, Crimi M, Comi GP, Bresolin N, Moggio M. Sciacco M, et al. Among authors: comi gp. J Neurol. 2003 Dec;250(12):1498-500. doi: 10.1007/s00415-003-0246-6. J Neurol. 2003. PMID: 14673588 No abstract available.

2

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

3

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Virgilio R, et al. Among authors: comi gp. J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575922

4

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.

Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP. Ronchi D, et al. Among authors: comi gp. BMC Neurol. 2011 Jul 12;11:85. doi: 10.1186/1471-2377-11-85. BMC Neurol. 2011. PMID: 21749722 Free PMC article.

5

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.

Remiche G, Ronchi D, Magri F, Lamperti C, Bordoni A, Moggio M, Bresolin N, Comi GP. Remiche G, et al. Among authors: comi gp. J Neurol. 2014 Jan;261(1):83-97. doi: 10.1007/s00415-013-7137-2. Epub 2013 Oct 25. J Neurol. 2014. PMID: 24158270 Review.

6

Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.

Prelle A, Tancredi L, Sciacco M, Chiveri L, Comi GP, Battistel A, Bazzi P, Martinelli Boneschi F, Bagnardi V, Ciscato P, Bordoni A, Fortunato F, Strazzer S, Bresolin N, Scarlato G, Moggio M. Prelle A, et al. Among authors: comi gp. J Neurol. 2002 Mar;249(3):305-11. doi: 10.1007/s004150200010. J Neurol. 2002. PMID: 11993531

7

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

8

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Ronchi D, et al. Among authors: comi gp. Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4. Brain. 2012. PMID: 23043144 Free PMC article.

9

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

10

Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?

Remiche G, Ronchi D, Lamperti C, Bordoni A, Magri F, Moggio M, Comi GP. Remiche G, et al. Among authors: comi gp. Eur Neurol. 2013;70(1-2):102-5. doi: 10.1159/000350851. Epub 2013 Jul 9. Eur Neurol. 2013. PMID: 23860444 Free article. No abstract available.

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