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Position statement on access to care in rare liver diseases: advancements of ...
Abstract The European Reference Network for rare liver diseases (ERN RARE-LIVER) is a Europe-wide network of paediatric and adult hepatologists from expert centres in close... -
Recommendations for patient screening in ultra-rare inherited metabolic disea...
Abstract Background Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many... -
Nosological delineation of congenital ocular motor apraxia type Cogan: an obs...
Abstract Background The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some... -
Inflammatory profile in LRRK2-associated prodromal and clinical PD
Abstract Background There is evidence for a relevant role of inflammation in the pathogenesis of Parkinsonâ s disease (PD). Mutations in the LRRK2 gene represent the most... -
Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation o...
Abstract To investigate the genetics of late-onset myasthenia gravis (LOMG), we conducted a genome-wide association study imputation of >6 million single nucleotide... -
Current progress and future opportunities in applications of bioinformatics f...
Abstract The Mid-Atlantic Microbiome Meet-up (M3) organization brings together academic, government, and industry groups to share ideas and develop best practices for microbiome...
