Tomelleri G - Search Results

1

Phenotype modulators in myophosphorylase deficiency.

Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, Toscano A, Merlini L, Bindoff LA, Bertelli S. Martinuzzi A, et al. Among authors: tomelleri g. Ann Neurol. 2003 Apr;53(4):497-502. doi: 10.1002/ana.10499. Ann Neurol. 2003. PMID: 12666117

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

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).

Simonati A, Filosto M, Savio C, Tomelleri G, Tonin P, Dalla Bernardina B, Rizzuto N. Simonati A, et al. Among authors: tomelleri g. Acta Neuropathol. 2003 Jul;106(1):57-65. doi: 10.1007/s00401-003-0698-x. Epub 2003 Apr 30. Acta Neuropathol. 2003. PMID: 12721699

4

Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease.

Simonati A, Filosto M, Tomelleri G, Savio C, Tonin P, Polo A, Rizzuto N. Simonati A, et al. Among authors: tomelleri g. J Neurol. 2003 Jun;250(6):702-6. doi: 10.1007/s00415-003-1065-5. J Neurol. 2003. PMID: 12796833

5

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

6

Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia.

Trevisan CP, Pastorello E, Armani M, Angelini C, Nante G, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Barchitta A. Trevisan CP, et al. Among authors: tomelleri g. Eur Neurol. 2006;56(1):1-5. doi: 10.1159/000094248. Epub 2006 Jun 27. Eur Neurol. 2006. PMID: 16804309

7

Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function.

Trevisan CP, Pastorello E, Ermani M, Angelini C, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Marioni G, Rimini A. Trevisan CP, et al. Among authors: tomelleri g. Audiol Neurootol. 2008;13(1):1-6. doi: 10.1159/000107431. Epub 2007 Aug 22. Audiol Neurootol. 2008. PMID: 17715463

8

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

9

Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions.

Trevisan CP, Pastorello E, Tomelleri G, Vercelli L, Bruno C, Scapolan S, Siciliano G, Comacchio F. Trevisan CP, et al. Among authors: tomelleri g. Eur J Neurol. 2008 Dec;15(12):1353-8. doi: 10.1111/j.1468-1331.2008.02314.x. Eur J Neurol. 2008. PMID: 19049553

10

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. Among authors: tomelleri g. 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

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