Read more about the article Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Abstract Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome,…

Continue ReadingHeterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Read more about the article Laying in silico pipelines for drug repositioning: a paradigm in ensemble analysis for neurodegenerative diseases.
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Laying in silico pipelines for drug repositioning: a paradigm in ensemble analysis for neurodegenerative diseases.

Abstract When faced with time- and money-consuming problems, new practices in pharmaceutical R&D arose when trying to alleviate them. Drug repositioning has great promise and when combined with today's computational…

Continue ReadingLaying in silico pipelines for drug repositioning: a paradigm in ensemble analysis for neurodegenerative diseases.
Read more about the article Late Onset Tremor and Ataxia Syndrome: FXTAS and its Ignored Peripheral Nervous System Findings in Diagnostic Criteria.
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Late Onset Tremor and Ataxia Syndrome: FXTAS and its Ignored Peripheral Nervous System Findings in Diagnostic Criteria.

Abstract

Continue ReadingLate Onset Tremor and Ataxia Syndrome: FXTAS and its Ignored Peripheral Nervous System Findings in Diagnostic Criteria.
Read more about the article CDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma.
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CDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma.

Abstract The prevalence of genetic variants associated to cutaneous melanoma (CM) has never been determined within Cypriot melanomas. This study evaluates the frequency of variants in cyclin-dependent kinase inhibitor 2A…

Continue ReadingCDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma.
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 Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

Abstract Numerous GJB1 gene mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X). GJB1 encodes connexin32 (Cx32), which forms trans-myelin gap junctions in Schwann cells. Most GJB1 mutations result in…

Continue ReadingGolgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
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 A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.
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A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.

Abstract Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure (CRF) and even end-stage renal…

Continue ReadingA functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.
Read more about the article A Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
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A Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.

Abstract Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been…

Continue ReadingA Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
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.