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Diseases of oxidative phosphorylation due to mtDNA mutations.
DiMauro S, Andreu AL, Musumeci O, Bonilla E. DiMauro S, et al. Semin Neurol. 2001 Sep;21(3):251-60. doi: 10.1055/s-2001-17942. Semin Neurol. 2001. PMID: 11641815 Review.
In the past 12 years, the small circle of mtDNA has proven to be a Pandora's box of pathogenic mutations, associated with a bewildering variety of multisystemic or tissue-specific disorders. ...
In the past 12 years, the small circle of mtDNA has proven to be a Pandora's box of pathogenic mutations, associated with a bewilderi …
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.
Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T, Davidson MM, Shanske S, Bonilla E, DiMauro S. Karadimas CL, et al. Neurology. 2000 Sep 12;55(5):644-9. doi: 10.1212/wnl.55.5.644. Neurology. 2000. PMID: 10980727
The mutation was heteroplasmic and abundantly present in COX-negative fibers, but less abundant or absent in COX-positive fibers; it was not found in blood or fibroblasts from the patient or in blood samples from the patient's asymptomatic mother and sister. ...
The mutation was heteroplasmic and abundantly present in COX-negative fibers, but less abundant or absent in COX-positive fibers; it was not …
Diagnosis of McArdle's disease by molecular genetic analysis of blood.
el-Schahawi M, Tsujino S, Shanske S, DiMauro S. el-Schahawi M, et al. Neurology. 1996 Aug;47(2):579-80. doi: 10.1212/wnl.47.2.579. Neurology. 1996. PMID: 8757044
We analyzed leukocyte DNA from 32 patients with suspected McArdle's disease, 24 of whom had biochemically or histochemically proven myophosphorylase deficiency. ...Our findings indicate that the diagnosis of McArdle's disease can be established in approximately 90% …
We analyzed leukocyte DNA from 32 patients with suspected McArdle's disease, 24 of whom had biochemically or histochemically proven m …
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.
Gironi M, Lamperti C, Nemni R, Moggio M, Comi G, Guerini FR, Ferrante P, Canal N, Naini A, Bresolin N, DiMauro S. Gironi M, et al. Neurology. 2004 Mar 9;62(5):818-20. doi: 10.1212/01.wnl.0000113719.67643.b7. Neurology. 2004. PMID: 15007142
Clinicopathological features of genetically confirmed Danon disease.
Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I. Sugie K, et al. Neurology. 2002 Jun 25;58(12):1773-8. doi: 10.1212/wnl.58.12.1773. Neurology. 2002. PMID: 12084876 Review.
Myopathy with tubulin-reactive crystalline inclusions.
Vu TH, Hays AP, Tanji K, Younger D, Gundersen GG, Eastwood A, Braun CW, DiMauro S, Bonilla E. Vu TH, et al. Neurology. 2001 Jul 10;57(1):149-52. doi: 10.1212/wnl.57.1.149. Neurology. 2001. PMID: 11445649
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. Neurology. 2001 Feb 27;56(4):450-4. doi: 10.1212/wnl.56.4.450. Neurology. 2001. PMID: 11222786
Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia.
Hedera P, DiMauro S, Bonilla E, Wald JJ, Fink JK. Hedera P, et al. Neurology. 2000 Nov 28;55(10):1591-2. doi: 10.1212/wnl.55.10.1591. Neurology. 2000. PMID: 11094129 No abstract available.
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
Shtilbans A, Shanske S, Goodman S, Sue CM, Bruno C, Johnson TL, Lava NS, Waheed N, DiMauro S. Shtilbans A, et al. J Child Neurol. 2000 Nov;15(11):759-61. doi: 10.1177/088307380001501109. J Child Neurol. 2000. PMID: 11108511
The mutation was less abundant in the same tissues from the patient's mother, who developed myoclonus epilepsy with ragged red fibers (MERRF) in her late 20s. ...
The mutation was less abundant in the same tissues from the patient's mother, who developed myoclonus epilepsy with ragged red fibers …
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