Tomelleri G - Search Results

1

A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.

Guglielmi V, Pancheri E, Cannone E, Nigro V, Malatesta M, Vettori A, Giorgetti A, Torella A, Aurino S, Cisterna B, Marchetto G, Tomelleri G, Tonin P, Schiavone M, Vattemi G. Guglielmi V, et al. Among authors: tomelleri g. Clin Genet. 2023 Dec;104(6):705-710. doi: 10.1111/cge.14413. Epub 2023 Aug 8. Clin Genet. 2023. PMID: 37553249

2

Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases.

Filosto M, Tonin P, Vattemi G, Spagnolo M, Rizzuto N, Tomelleri G. Filosto M, et al. Among authors: tomelleri g. Acta Neuropathol. 2002 Mar;103(3):215-20. doi: 10.1007/s004010100455. Epub 2001 Nov 16. Acta Neuropathol. 2002. PMID: 11907800

3

SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy.

Tomelleri G, Palmucci L, Tonin P, Mongini T, Marini M, L'erario R, Rizzuto N, Vattemi G. Tomelleri G, et al. Brain. 2006 Aug;129(Pt 8):2085-92. doi: 10.1093/brain/awl128. Epub 2006 May 19. Brain. 2006. PMID: 16714317

4

Neuropathology of mitochondrial diseases.

Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A. Filosto M, et al. Among authors: tomelleri g. Biosci Rep. 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3. Biosci Rep. 2007. PMID: 17541738 Review.

5

Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.

Filosto M, Tonin P, Scarpelli M, Savio C, Greco F, Mancuso M, Vattemi G, Govoni V, Rizzuto N, Tupler R, Tomelleri G. Filosto M, et al. Among authors: tomelleri g. Neuromuscul Disord. 2008 Mar;18(3):204-9. doi: 10.1016/j.nmd.2007.12.005. Epub 2008 Mar 14. Neuromuscul Disord. 2008. PMID: 18343111

6

Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.

Vattemi G, Gualandi F, Oosterhof A, Marini M, Tonin P, Rimessi P, Neri M, Guglielmi V, Russignan A, Poli C, van Kuppevelt TH, Ferlini A, Tomelleri G. Vattemi G, et al. Among authors: tomelleri g. J Neuropathol Exp Neurol. 2010 Mar;69(3):246-52. doi: 10.1097/NEN.0b013e3181d0f7d5. J Neuropathol Exp Neurol. 2010. PMID: 20142766

7

Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement.

Vattemi G, Mechref Y, Marini M, Tonin P, Minuz P, Grigoli L, Guglielmi V, Klouckova I, Chiamulera C, Meneguzzi A, Di Chio M, Tedesco V, Lovato L, Degan M, Arcaro G, Lechi A, Novotny MV, Tomelleri G. Vattemi G, et al. Among authors: tomelleri g. Mol Cell Proteomics. 2011 Apr;10(4):M110.002964. doi: 10.1074/mcp.M110.002964. Epub 2010 Dec 14. Mol Cell Proteomics. 2011. PMID: 21156839 Free PMC article.

8

Endothelial dysfunction and increased oxidative stress in mitochondrial diseases.

Minuz P, Fava C, Vattemi G, Arcaro G, Riccadonna M, Tonin P, Meneguzzi A, Degan M, Guglielmi V, Lechi A, Tomelleri G. Minuz P, et al. Among authors: tomelleri g. Clin Sci (Lond). 2012 Mar;122(6):289-97. doi: 10.1042/CS20110199. Clin Sci (Lond). 2012. PMID: 21970465

9

Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient.

Scarpelli M, Zappini F, Filosto M, Russignan A, Tonin P, Tomelleri G. Scarpelli M, et al. Among authors: tomelleri g. Genet Res Int. 2012;2012:287432. doi: 10.1155/2012/287432. Epub 2012 Feb 20. Genet Res Int. 2012. PMID: 22567382 Free PMC article.

10

Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.

Vattemi G, Neri M, Marini M, Gualandi F, Tonin P, Bertolasi L, Guglielmi V, Catalli C, Novelli G, Ferlini A, Tomelleri G. Vattemi G, et al. Among authors: tomelleri g. Neurologist. 2012 Sep;18(5):306-9. doi: 10.1097/NRL.0b013e3182675496. Neurologist. 2012. PMID: 22931740

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