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Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.
Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP. Del Bo R, et al. Neurology. 2003 Oct 14;61(7):903-8. doi: 10.1212/01.wnl.0000092303.13864.be. Neurology. 2003. PMID: 14557557
METHODS: A large-scale screening of mtDNA molecules from skeletal muscle was performed in 14 patients with progressive external ophthalmoplegia (PEO) and 2 patients with mitochondrial neurogastrointestinal encephalomyopathy carrying mutations on ANT1, C10ORF2 or POLG1, and …
METHODS: A large-scale screening of mtDNA molecules from skeletal muscle was performed in 14 patients with progressive external ophth …
[Expression of a defect in the respiratory chain in cultured human cells].
Meola G, Rotondo G, Velicogna M, Toppi R, Sansone V, Bresolin N, Comi G, Bordoni A, Amati P, Ausenda C, et al. Meola G, et al. Riv Neurol. 1991 Jul-Aug;61(4):122-34. Riv Neurol. 1991. PMID: 1667713 Italian.
We have analyzed by Southern blotting and Polymerase Chain Reaction (PCR) the mtDNA in primary muscle cultures (myoblast-myotube stages and at clonal densities) and in fibrogenic subclones obtained from 9 patients with partial COx deficiency who had in their muscle biopsy a
We have analyzed by Southern blotting and Polymerase Chain Reaction (PCR) the mtDNA in primary muscle cultures (myoblast-myotube stages and …
Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues.
Ponzetto C, Bresolin N, Bordoni A, Moggio M, Meola G, Bet L, Prelle A, Scarlato G. Ponzetto C, et al. J Neurol Sci. 1990 May;96(2-3):207-10. doi: 10.1016/0022-510x(90)90133-8. J Neurol Sci. 1990. PMID: 2376752
A population of deleted mitochondrial DNA (mtDNA) was found in different amounts in autoptic muscle, heart, cortex, cerebellum, liver and kidney of a patient who died of Kearn-Sayre Syndrome (KSS). The widespread occurrence of the deletion correlates with the multis
A population of deleted mitochondrial DNA (mtDNA) was found in different amounts in autoptic muscle, heart, cortex, cerebellum, liver
Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.
Moroni I, Gonano EF, Comi GP, Tegazzin V, Prelle A, Bordoni A, Bresolin N, Scarlato G. Moroni I, et al. J Neurol. 1995 Feb;242(3):127-33. doi: 10.1007/BF00936884. J Neurol. 1995. PMID: 7751854
Malignant hyperthermia (MH) is a rare clinical syndrome, triggered in susceptible subjects by a variety of anaesthetic agents and muscle relaxants, and is the commonest cause of death due to general anaesthesia. ...We undertook a mutation analysis of RYR1 gen …
Malignant hyperthermia (MH) is a rare clinical syndrome, triggered in susceptible subjects by a variety of anaesthetic agents …
Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases.
Bet L, Moggio M, Comi GP, Mariani C, Prelle A, Checcarelli N, Bordoni A, Bresolin N, Scarpini E, Scarlato G. Bet L, et al. J Neurol. 1994 Jul;241(8):511-6. doi: 10.1007/BF00919714. J Neurol. 1994. PMID: 7964921
A woman with definite multiple sclerosis (MS) and mitochondrial myopathy is described. There were widespread white matter lesions on magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) abnormalities and evoked response changes. ...Southern blot analysis revealed
A woman with definite multiple sclerosis (MS) and mitochondrial myopathy is described. There were widespread white matter lesions on
Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level.
Prelle A, Fagiolari G, Checcarelli N, Moggio M, Battistel A, Comi GP, Bazzi P, Bordoni A, Zeviani M, Scarlato G. Prelle A, et al. Acta Neuropathol. 1994;87(4):371-6. doi: 10.1007/BF00313606. Acta Neuropathol. 1994. PMID: 8017172
Deleted mtDNAs are spatially segregated in muscle fibers, where they interfere with the local population of normal mitochondrial genomes, causing a regional deficiency of the mitochondrial respiratory activity....
Deleted mtDNAs are spatially segregated in muscle fibers, where they interfere with the local population of normal mitochondrial genomes, ca …
Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy.
Checcarelli N, Prelle A, Moggio M, Comi G, Bresolin N, Papadimitriou A, Fagiolari G, Bordoni A, Scarlato G. Checcarelli N, et al. J Neurol Sci. 1994 May;123(1-2):74-9. doi: 10.1016/0022-510x(94)90206-2. J Neurol Sci. 1994. PMID: 8064325
Multiple deletions of mitochondrial DNA (mtDNA) were first identified in patients with mitochondrial encephalomyopathy with a clear mendelian inheritance. ...
Multiple deletions of mitochondrial DNA (mtDNA) were first identified in patients with mitochondrial encephalomyopathy with a clear m …
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.
Comi GP, Prelle A, Bresolin N, Moggio M, Bardoni A, Gallanti A, Vita G, Toscano A, Ferro MT, Bordoni A, et al. Comi GP, et al. Brain. 1994 Feb;117 ( Pt 1):1-14. doi: 10.1093/brain/117.1.1-a. Brain. 1994. PMID: 8149204
Domain I deleted patients tended to have a worse clinical phenotype, with earlier presentation, faster progression rate and lower dystrophin expression, while distal rod domain deleted patients showed a more classic Becker muscular dystrophy phenotype. ...Dystrophin …
Domain I deleted patients tended to have a worse clinical phenotype, with earlier presentation, faster progression rate and lower dys …
Muscle mitochondria investigation in myotonic dystrophy.
Vita G, Toscano A, Prelle A, Bordoni A, Checcarelli N, Bresolin N, Baradello A, Messina C. Vita G, et al. Eur Neurol. 1993;33(6):423-7. doi: 10.1159/000116987. Eur Neurol. 1993. PMID: 8307063
A single ragged red fiber, but no cytochrome c oxidase-negative fibers were found in the muscle specimen of 1 patient. However, mitochondrial enzyme activities resulted within the normal range. ...Another possibility is that among patients with a myotonic dystrophy
A single ragged red fiber, but no cytochrome c oxidase-negative fibers were found in the muscle specimen of 1 patient. However, mitoc
Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis.
Prelle A, Moggio M, Checcarelli N, Comi G, Bresolin N, Battistel A, Bordoni A, Scarlato G. Prelle A, et al. J Neurol Sci. 1993 Jul;117(1-2):24-7. doi: 10.1016/0022-510x(93)90149-s. J Neurol Sci. 1993. PMID: 8410061
In this study multiple deletions of mitochondrial genome were found in a patient presenting with periodic attacks of paralysis. ...
In this study multiple deletions of mitochondrial genome were found in a patient presenting with periodic attacks of paralysis. ...
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