Read more about the article C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy.
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C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy.

Abstract ATTRV30M amyloid neuropathy is a lethal autosomal dominant sensorimotor and autonomic neuropathy, caused by deposition of amyloid fibrils composed of aberrant transthyretin (TTR). Ages of onset and penetrance exhibit…

Continue ReadingC1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy.
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 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.