Read more about the article EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
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EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.

Abstract To provide evidence-based guidelines to general neurologists for the assessment of patients with pauci- or asymptomatic hyperCKemia. Recent epidemiologic studies show that up to 20% of 'normal' individuals have…

Continue ReadingEFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
Read more about the article Cystic diseases of the kidney: molecular biology and genetics.
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Cystic diseases of the kidney: molecular biology and genetics.

Abstract Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing X-linked, autosomal dominant, and autosomal recessive inheritance.…

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Read more about the article Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.
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Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.

Abstract Plasma soluble leptin receptor (sOB-R) levels were inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor, which…

Continue ReadingGenome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.
Read more about the article Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.
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Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

Abstract Complement is a key component of the innate immune system, and variation in genes that regulate its activation is associated with renal and other disease. We aimed to establish…

Continue ReadingIdentification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.
Read more about the article Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.
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Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.

Abstract The X-linked demyelinating/type I Charcot-Marie-Tooth neuropathy (CMT1X) is an inherited peripheral neuropathy caused by mutations in GJB1, the gene that encodes the gap junction protein connexin32. Connexin32 is expressed…

Continue ReadingAxonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.
Read more about the article The application of ribozymes and DNAzymes in muscle and brain.
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The application of ribozymes and DNAzymes in muscle and brain.

Abstract The discovery of catalytic nucleic acids (CNAs) has provided scientists with valuable tools for the identification of new therapies for several untreated diseases through down regulation or modulation of…

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Read more about the article ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
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ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.

Abstract The detection and diagnosis of β-thalassaemia for populations with molecular heterogeneity, or diverse ethnic groups, has increased the need for the development of an array high-throughput diagnostic tool that…

Continue ReadingThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
Read more about the article Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.
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Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.

Abstract DM1 (myotonic dystrophy type I) is a common form of muscular dystrophy that affects mainly adults. It is a disease that belongs to the group of defective RNA export…

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Read more about the article Molecular mechanisms of gap junction mutations in myelinating cells.
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Molecular mechanisms of gap junction mutations in myelinating cells.

Abstract There is an emerging group of neurological disorders that result from genetic mutations affecting gap junction proteins in myelinating cells. The X-linked form of Charcot Marie Tooth disease (CMT1X)…

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Read more about the article Characterization of a sandfly fever Sicilian virus isolated during a sandfly fever epidemic in Turkey.
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Characterization of a sandfly fever Sicilian virus isolated during a sandfly fever epidemic in Turkey.

Abstract Phleboviruses cause sandfly fever but isolates are rare. To analyse samples from concurrent outbreaks of suspected sandfly fever in the Mediterranean provinces of Adana, Izmir and the central province…

Continue ReadingCharacterization of a sandfly fever Sicilian virus isolated during a sandfly fever epidemic in Turkey.