Read more about the article Distal hereditary motor neuronopathy of the Jerash type.
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Distal hereditary motor neuronopathy of the Jerash type.

Abstract A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of…

Continue ReadingDistal hereditary motor neuronopathy of the Jerash type.
Read more about the article Gene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients.
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Gene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients.

Abstract Tumor necrosis factor-alpha (TNFalpha) is a pluripotent proinflammatory cytokine and is thought to play an important role in the inflammatory process of multiple sclerosis (MS). A G-->A transition in…

Continue ReadingGene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients.
Read more about the article Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.
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Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.

Abstract To identify and to characterize functionally the mutational basis of congenital myasthenic syndromes (CMS) linked to chromosome 17p.A total of 37 patients belonging to 13 CMS families, 9 of…

Continue ReadingChromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.
Read more about the article Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.
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Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.

Abstract The objectives of this study were to evaluate a novel semiquantitative application of the bioluminescence test for screening newborns for Duchenne muscular dystrophy (DMD) and to use this technique…

Continue ReadingNeonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.
Read more about the article Ultrastructural diagnosis of mitochondrial encephalomyopathies revisited.
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Ultrastructural diagnosis of mitochondrial encephalomyopathies revisited.

Abstract Mitochondrial encephalomyopathies (MEs) are a heterogeneous group of multisystem disorders with extreme variability in clinical phenotype. Due to their complex nature, accurate diagnosis requires a coordinated approach, based on…

Continue ReadingUltrastructural diagnosis of mitochondrial encephalomyopathies revisited.
Read more about the article Thin glomerular basement membranes in patients with hematuria and minimal change disease.
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Thin glomerular basement membranes in patients with hematuria and minimal change disease.

Abstract A detailed morphometric analysis of glomerular basement membrane (GBM) thickness was carried out on biopsies from 16 patients exhibiting normal histology and unremarkable immunofluorescence. Eleven of these patients presented…

Continue ReadingThin glomerular basement membranes in patients with hematuria and minimal change disease.
Read more about the article Typing of sandflies from Greece and Cyprus by DNA polymorphism of 18S rRNA gene.
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Typing of sandflies from Greece and Cyprus by DNA polymorphism of 18S rRNA gene.

Abstract A simple and reliable technique was developed to distinguish Phlebotomine sandflies by restriction fragment length polymorphism of PCR-amplified (PCR-RFLP) 18S rDNAs. Seven morphologically identified sandflies species from several localities…

Continue ReadingTyping of sandflies from Greece and Cyprus by DNA polymorphism of 18S rRNA gene.
Read more about the article Molecular analysis of the full-length genome of HIV type 1 subtype I: evidence of A/G/I recombination.
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Molecular analysis of the full-length genome of HIV type 1 subtype I: evidence of A/G/I recombination.

Abstract Phylogenetic analysis of partial env sequences of HIV-1 isolates from Cyprus and Greece suggested the existence of a distinct subtype of the virus, designated as I. We examined whether…

Continue ReadingMolecular analysis of the full-length genome of HIV type 1 subtype I: evidence of A/G/I recombination.
Read more about the article Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.
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Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.

Abstract In order to identify genetic factors governing expansion of the CGG repeat in the FMR1 gene and to determine what predisposes or causes a normal stable allele to change…

Continue ReadingGenetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.
Read more about the article Binding free energies and free energy components from molecular dynamics and Poisson-Boltzmann calculations. Application to amino acid recognition by aspartyl-tRNA synthetase.
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Binding free energies and free energy components from molecular dynamics and Poisson-Boltzmann calculations. Application to amino acid recognition by aspartyl-tRNA synthetase.

Abstract Specific amino acid binding by aminoacyl-tRNA synthetases (aaRS) is necessary for correct translation of the genetic code. Engineering a modified specificity into aminoacyl-tRNA synthetases has been proposed as a…

Continue ReadingBinding free energies and free energy components from molecular dynamics and Poisson-Boltzmann calculations. Application to amino acid recognition by aspartyl-tRNA synthetase.