DiMauro S - Search Results

1

Current classification of mitochondrial disorders.

Andreu AL, DiMauro S. Andreu AL, et al. Among authors: dimauro s. J Neurol. 2003 Dec;250(12):1403-6. doi: 10.1007/s00415-003-0281-3. J Neurol. 2003. PMID: 14673571 Review. No abstract available.

2

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R. Sue CM, et al. Among authors: dimauro s. Neurology. 1999 Jun 10;52(9):1905-8. doi: 10.1212/wnl.52.9.1905. Neurology. 1999. PMID: 10371545

3

Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.

Gamez J, Navarro C, Andreu AL, Fernandez JM, Palenzuela L, Tejeira S, Fernandez-Hojas R, Schwartz S, Karadimas C, DiMauro S, Hirano M, Cervera C. Gamez J, et al. Among authors: dimauro s. Neurology. 2001 Feb 27;56(4):450-4. doi: 10.1212/wnl.56.4.450. Neurology. 2001. PMID: 11222786

4

Molecular genetic analysis of McArdle's disease in Spanish patients.

Andreu AL, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, Arbos MA, Tamburino L, Schwartz S, DiMauro S. Andreu AL, et al. Among authors: dimauro s. Neurology. 1998 Jul;51(1):260-2. doi: 10.1212/wnl.51.1.260. Neurology. 1998. PMID: 9674815

5

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.

Andreu AL, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L, Systrom DS, Brown RH Jr, DiMauro S. Andreu AL, et al. Among authors: dimauro s. Neurology. 1998 Nov;51(5):1444-7. doi: 10.1212/wnl.51.5.1444. Neurology. 1998. PMID: 9818877

6

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.

Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, Krishna S, Hadjigeorgiou GM, Shtilbans A, Bonilla E, DiMauro S. Andreu AL, et al. Among authors: dimauro s. Ann Neurol. 1999 Jan;45(1):127-30. doi: 10.1002/1531-8249(199901)45:1<127::aid-art20>3.0.co;2-y. Ann Neurol. 1999. PMID: 9894887

7

[Mitochondrial encephalopathies: where are we going?].

DiMauro S, Andreu AL, Bonilla E. DiMauro S, et al. Rev Neurol. 1999 Jan 16-31;28(2):164-8. Rev Neurol. 1999. PMID: 10101786 Review. Spanish.

8

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.

Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue CM, Jay C, Ohnishi T, Shanske S, Bonilla E, DiMauro S. Andreu AL, et al. Among authors: dimauro s. Ann Neurol. 1999 Jun;45(6):820-3. doi: 10.1002/1531-8249(199906)45:6<820::aid-ana22>3.0.co;2-w. Ann Neurol. 1999. PMID: 10360780

9

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.

Gamez J, Fernandez R, Bruno C, Andreu AL, Cervera C, Navarro C, Schwartz S, Dimauro S. Gamez J, et al. Among authors: dimauro s. Muscle Nerve. 1999 Aug;22(8):1136-8. doi: 10.1002/(sici)1097-4598(199908)22:8<1136::aid-mus21>3.0.co;2-2. Muscle Nerve. 1999. PMID: 10417800

10

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

Fernández R, Navarro C, Andreu AL, Bruno C, Shanske S, Gámez J, Teijeira S, Hernández I, Teijeiro A, Fernández JM, Musumeci O, DiMauro S. Fernández R, et al. Among authors: dimauro s. Arch Neurol. 2000 Feb;57(2):217-9. doi: 10.1001/archneur.57.2.217. Arch Neurol. 2000. PMID: 10681080 Clinical Trial.

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