Read more about the article Radial nerve F-waves: normative values with surface recording from the extensor indicis muscle.
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Radial nerve F-waves: normative values with surface recording from the extensor indicis muscle.

Abstract In the present study we set out to obtain normative values for radial nerve F-waves, with surface recording from the extensor indicis muscle.Forty-nine patients with unrelated complaints were tested.…

Continue ReadingRadial nerve F-waves: normative values with surface recording from the extensor indicis muscle.
Read more about the article A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
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A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.

Abstract Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified…

Continue ReadingA novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
Read more about the article Ribozyme and peptide-nucleic acid-based gene therapy.
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Ribozyme and peptide-nucleic acid-based gene therapy.

Abstract The recent discovery that RNA can act as a catalyst, apart from carrying genetic information, has given a new dimension to the field of gene therapy and has come…

Continue ReadingRibozyme and peptide-nucleic acid-based gene therapy.
Read more about the article Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.
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Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

Abstract Mutations in three different genes, PKD1, PKD2 and PKD3, can cause a very similar clinical picture of the autosomal dominant form of polycystic kidney disease (ADPKD). Apparently, mutations in…

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Read more about the article Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
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Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.

Abstract In the last 15 years, four patients with the infantile form of Sandhoff disease were diagnosed in four different families in Cyprus (population 703,000, birth rate 1.7%). Three of…

Continue ReadingSandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
Read more about the article Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
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Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.

Abstract

Continue ReadingSegregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
Read more about the article Hb Bart’s levels in cord blood and alpha-thalassemia mutations in Cyprus.
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Hb Bart’s levels in cord blood and alpha-thalassemia mutations in Cyprus.

Abstract The purpose of this study was to examine the frequency of alpha-thalassemia in the population of Cyprus using cord blood samples. The levels of Hb Bart's were compared with…

Continue ReadingHb Bart’s levels in cord blood and alpha-thalassemia mutations in Cyprus.
Read more about the article Presence of diverse human immunodeficiency virus type 1 viral variants in Cameroon.
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Presence of diverse human immunodeficiency virus type 1 viral variants in Cameroon.

Abstract Phylogenetic analysis of the gp41 region of 123 HIV-1-seropositive specimens from Cameroon showed that 89 were subtype A (71% of these sequences were IbNg-like), 12 (10%) were subtype D,…

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Read more about the article The Kleine-Levin syndrome. Report of a case and review of the literature.
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The Kleine-Levin syndrome. Report of a case and review of the literature.

Abstract Kleine-Levin syndrome is a rare self-limited disorder which usually affects adolescent males and is characterized by episodic hypersomnia, increased appetite, and behavioral/psychiatric disturbances. Individuals are normal between the attacks.…

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Read more about the article The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese.
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The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese.

Abstract Resistance to activated protein C (APC) degradation caused by a specific point mutation in the factor V (FV) gene, FV:R506Q or FV-Leiden, which replaces Arg506 with Gln at the…

Continue ReadingThe prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese.