Tonin P - Search Results

1

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.

Scarpelli M, Carreño-Gago L, Russignan A, de Luna N, Carnicer-Cáceres C, Ariatti A, Verriello L, Devigili G, Tonin P, Garcia-Arumi E, Pinós T. Scarpelli M, et al. Among authors: tonin p. Neuromuscul Disord. 2018 Feb;28(2):137-143. doi: 10.1016/j.nmd.2017.10.006. Epub 2017 Oct 31. Neuromuscul Disord. 2018. PMID: 29174468

2

Polyglucosan body myopathy: a new case.

Tonin P, Tomelleri G, Vio M, Rizzuto N. Tonin P, et al. Neuromuscul Disord. 1992;2(5-6):419-22. doi: 10.1016/s0960-8966(06)80014-3. Neuromuscul Disord. 1992. PMID: 1300190

3

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia.

Spagnolo M, Tomelleri G, Vattemi G, Filosto M, Rizzuto N, Tonin P. Spagnolo M, et al. Among authors: tonin p. Neuromuscul Disord. 2001 Jul;11(5):481-4. doi: 10.1016/s0960-8966(01)00195-x. Neuromuscul Disord. 2001. PMID: 11404121

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: tonin p. 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: tonin p. 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

McArdle disease and sporadic inclusion body myositis.

Scarpelli M, Vattemi G, Filosto M, Krause S, Marini M, Tomelleri G, Tonin P. Scarpelli M, et al. Among authors: tonin p. Neuropathol Appl Neurobiol. 2009 Aug;35(4):442-445. doi: 10.1111/j.1365-2990.2009.01019.x. Epub 2009 Feb 11. Neuropathol Appl Neurobiol. 2009. PMID: 19220759 No abstract available.

7

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.

Tonin P, Bruno C, Cassandrini D, Savio C, Tavazzi E, Tomelleri G, Piccolo G. Tonin P, et al. Neuromuscul Disord. 2009 Nov;19(11):776-8. doi: 10.1016/j.nmd.2009.08.007. Epub 2009 Sep 23. Neuromuscul Disord. 2009. PMID: 19783439

8

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.

Sacconi S, Trevisson E, Salviati L, Aymé S, Rigal O, Redondo AG, Mancuso M, Siciliano G, Tonin P, Angelini C, Auré K, Lombès A, Desnuelle C. Sacconi S, et al. Among authors: tonin p. Neuromuscul Disord. 2010 Jan;20(1):44-8. doi: 10.1016/j.nmd.2009.10.014. Epub 2009 Nov 27. Neuromuscul Disord. 2010. PMID: 19945282

9

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: tonin p. J Neuropathol Exp Neurol. 2010 Mar;69(3):246-52. doi: 10.1097/NEN.0b013e3181d0f7d5. J Neuropathol Exp Neurol. 2010. PMID: 20142766

10

Current options in the treatment of mitochondrial diseases.

Scarpelli M, Cotelli MS, Mancuso M, Tomelleri G, Tonin P, Baronchelli C, Vielmi V, Gregorelli V, Todeschini A, Padovani A, Filosto M. Scarpelli M, et al. Among authors: tonin p. Recent Pat CNS Drug Discov. 2010 Nov;5(3):203-9. doi: 10.2174/157488910793362412. Recent Pat CNS Drug Discov. 2010. PMID: 20722626 Review.

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