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.
Read more about the article Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
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Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.

Abstract Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: a demyelinating and an axonal type. Further subdivisions within these 2 main categories…

Continue ReadingCharcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
Read more about the article New insights for Ets2 function in trophoblast using lentivirus-mediated gene knockdown in trophoblast stem cells.
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New insights for Ets2 function in trophoblast using lentivirus-mediated gene knockdown in trophoblast stem cells.

Abstract Mouse trophoblast stem (TS) cells represent a unique in vitro system that provides an unlimited supply of TS cells for the study of trophoblast differentiation and TS cell self-renewal.…

Continue ReadingNew insights for Ets2 function in trophoblast using lentivirus-mediated gene knockdown in trophoblast stem cells.
Read more about the article Quantitative proteomic profiling of matched normal and tumor breast tissues.
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Quantitative proteomic profiling of matched normal and tumor breast tissues.

Abstract Proteomic analysis of breast cancer tissue has proven difficult due to its inherent histological complexity. This pilot study presents preliminary evidence for the ability to differentiate adenoma and invasive…

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Read more about the article Brainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.
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Brainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.

Abstract Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, with epileptic seizures sometimes observed in the same patients. In this study, we used evoked responses…

Continue ReadingBrainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.
Read more about the article Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
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Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.

Abstract Ethylmalonic encephalopathy (EE, OMIM # 602473) is an autosomal recessive metabolic disorder of infancy affecting the brain, the gastrointestinal tract and peripheral vessels. It is caused by a defect…

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Read more about the article The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
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The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

Abstract 5α steroid reductase deficiency (5αSRD) is an autosomal recessive enzymatic deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphrodism caused by decreased…

Continue ReadingThe IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
Read more about the article The risks associated with wastewater reuse and xenobiotics in the agroecological environment.
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The risks associated with wastewater reuse and xenobiotics in the agroecological environment.

Abstract Treated wastewater reuse for irrigation, landscape and surface or groundwater replenishment purposes is being widely implemented. Although the reuse practice is accompanied by a number of benefits relating to…

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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.