Read more about the article Epidemiology of Amyotrophic Lateral Sclerosis in the Republic of Cyprus: A 25-Year Retrospective Study.
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Epidemiology of Amyotrophic Lateral Sclerosis in the Republic of Cyprus: A 25-Year Retrospective Study.

Abstract Amyotrophic lateral sclerosis (ALS) is a rare, rapidly progressive neurodegenerative disease. Despite wide variability in the incidence and prevalence of ALS, there is evidence of positive temporal trends and…

Continue ReadingEpidemiology of Amyotrophic Lateral Sclerosis in the Republic of Cyprus: A 25-Year Retrospective Study.
Read more about the article Neuronal Expression of Truncated Tau Efficiently Promotes Neurodegeneration in Animal Models: Pitfalls of Toxic Oligomer Analysis.
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Neuronal Expression of Truncated Tau Efficiently Promotes Neurodegeneration in Animal Models: Pitfalls of Toxic Oligomer Analysis.

Abstract Animal models of neurodegeneration induced by neuronal expression of truncated tau protein emerge as an important tool for understanding the pathogenesis of human tauopathies and for therapy development. Here…

Continue ReadingNeuronal Expression of Truncated Tau Efficiently Promotes Neurodegeneration in Animal Models: Pitfalls of Toxic Oligomer Analysis.
Read more about the article PRACTICE OF CONSANGUINITY AND ATTITUDES TOWARDS RISK IN THE PASHTUN POPULATION OF KHYBER PAKHTUNKHWA, PAKISTAN.
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PRACTICE OF CONSANGUINITY AND ATTITUDES TOWARDS RISK IN THE PASHTUN POPULATION OF KHYBER PAKHTUNKHWA, PAKISTAN.

Abstract SummaryThis study aimed to investigate the frequency of consanguineous marriages and level of understanding of consanguinity-associated genetic risks in the Pashtun population, Pakistan. Information was gathered using a detailed…

Continue ReadingPRACTICE OF CONSANGUINITY AND ATTITUDES TOWARDS RISK IN THE PASHTUN POPULATION OF KHYBER PAKHTUNKHWA, PAKISTAN.
Read more about the article Hierarchical cortical transcriptome disorganization in autism.
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Hierarchical cortical transcriptome disorganization in autism.

Abstract Autism spectrum disorders (ASD) are etiologically heterogeneous and complex. Functional genomics work has begun to identify a diverse array of dysregulated transcriptomic programs (e.g., synaptic, immune, cell cycle, DNA…

Continue ReadingHierarchical cortical transcriptome disorganization in autism.
Read more about the article Variations in the 3’UTR of the Gene in Heterozygous Females with Hyperandrogenaemia.
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Variations in the 3’UTR of the Gene in Heterozygous Females with Hyperandrogenaemia.

Abstract Heterozygosity for mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female…

Continue ReadingVariations in the 3’UTR of the Gene in Heterozygous Females with Hyperandrogenaemia.
Read more about the article The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation.
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The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation.

Abstract The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study on biomarkers for autism spectrum disorder (ASD). The current paper describes the clinical…

Continue ReadingThe EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation.
Read more about the article The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders.
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The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders.

Abstract The tremendous clinical and aetiological diversity among individuals with autism spectrum disorder (ASD) has been a major obstacle to the development of new treatments, as many may only be…

Continue ReadingThe EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders.
Read more about the article Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
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Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Abstract Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All…

Continue ReadingClinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Read more about the article Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress.
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Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress.

Abstract Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy, which is characterised by progressive muscle wasting and the discovery of reliable blood-based biomarkers could…

Continue ReadingIdentification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress.
Read more about the article Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
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Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Abstract Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical…

Continue ReadingFrequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.