Read more about the article Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
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Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.

Abstract Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships…

Continue ReadingDeveloping and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
Read more about the article A quantitative method for the assessment of dysarthrophonia in myasthenia gravis.
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A quantitative method for the assessment of dysarthrophonia in myasthenia gravis.

Abstract Speech and voice symptomatology (dysarthrophonia) are often reported by patients with myasthenia gravis (MG). However, they have been poorly investigated despite their significant impact on quality of life. Quantitative…

Continue ReadingA quantitative method for the assessment of dysarthrophonia in myasthenia gravis.
Read more about the article Gene variants of adhesion molecules act as modifiers of disease severity in MS.
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Gene variants of adhesion molecules act as modifiers of disease severity in MS.

Abstract To assess the potential effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the clinical phenotype of multiple sclerosis (MS). A…

Continue ReadingGene variants of adhesion molecules act as modifiers of disease severity in MS.
Read more about the article Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.
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Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.

Abstract . Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as…

Continue ReadingOpen-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.
Read more about the article Preconception and prenatal genetic counselling.
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Preconception and prenatal genetic counselling.

Abstract Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the…

Continue ReadingPreconception and prenatal genetic counselling.
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 Nipple aspirate fluid-A liquid biopsy for diagnosing breast health.
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Nipple aspirate fluid-A liquid biopsy for diagnosing breast health.

Abstract Nipple secretions are protein-rich and a potential source of breast cancer biomarkers for breast cancer screening. Previous studies of specific proteins have shown limited correlation with clinicopathological features. Our…

Continue ReadingNipple aspirate fluid-A liquid biopsy for diagnosing breast health.
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.