Filosto M - Search Results

1

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S. Mancuso M, et al. Among authors: filosto m. Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007. Arch Neurol. 2003. PMID: 12873860

2

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene.

Mancuso M, Filosto M, Stevens JC, Patterson M, Shanske S, Krishna S, DiMauro S. Mancuso M, et al. Among authors: filosto m. J Neurol Sci. 2003 May 15;209(1-2):61-3. doi: 10.1016/s0022-510x(02)00462-8. J Neurol Sci. 2003. PMID: 12686403

3

Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251.

Mancuso M, Filosto M, Hirano M, DiMauro S. Mancuso M, et al. Among authors: filosto m. Acta Neuropathol. 2003 Jun;105(6):621-2. doi: 10.1007/s00401-003-0699-9. Epub 2003 Apr 10. Acta Neuropathol. 2003. PMID: 12687391 No abstract available.

4

A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis.

Mancuso M, Filosto M, Naini A, Rocchi A, Del Corona A, Sartucci F, Siciliano G, Murri L. Mancuso M, et al. Among authors: filosto m. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Dec;3(4):215-8. doi: 10.1080/146608202760839007. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002. PMID: 12710511

5

Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease.

Mancuso M, Filosto M, Bosetti F, Ceravolo R, Rocchi A, Tognoni G, Manca ML, Solaini G, Siciliano G, Murri L. Mancuso M, et al. Among authors: filosto m. Exp Neurol. 2003 Aug;182(2):421-6. doi: 10.1016/s0014-4886(03)00092-x. Exp Neurol. 2003. PMID: 12895452 Clinical Trial.

6

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S. Filosto M, et al. Arch Neurol. 2003 Sep;60(9):1279-84. doi: 10.1001/archneur.60.9.1279. Arch Neurol. 2003. PMID: 12975295

7

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

Filosto M, Mancuso M, Vives-Bauza C, Vilà MR, Shanske S, Hirano M, Andreu AL, DiMauro S. Filosto M, et al. Ann Neurol. 2003 Oct;54(4):524-6. doi: 10.1002/ana.10709. Ann Neurol. 2003. PMID: 14520667

8

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.

Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S. Mancuso M, et al. Among authors: filosto m. Arch Neurol. 2003 Oct;60(10):1445-7. doi: 10.1001/archneur.60.10.1445. Arch Neurol. 2003. PMID: 14568816

9

P301L Tau mutation and non-Alzheimer dementias in Italy.

Mancuso M, Leone M, Filosto M, Tognoni G, Siciliano G, Nichelli P, Murri L. Mancuso M, et al. Among authors: filosto m. Acta Neurol Scand. 2003 Nov;108(5):379-80. doi: 10.1034/j.1600-0404.2003.00188.x. Acta Neurol Scand. 2003. PMID: 14616311 No abstract available.

10

POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V. Mancuso M, et al. Among authors: filosto m. Neurology. 2004 Jan 27;62(2):316-8. doi: 10.1212/wnl.62.2.316. Neurology. 2004. PMID: 14745080

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