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Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysos...
Abstract Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe... -
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... -
The round goby genome provides insights into mechanisms that may facilitate b...
Abstract Background The invasive benthic round goby (Neogobius melanostomus) is the most successful temperate invasive fish and has spread in aquatic ecosystems on both sides of... -
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... -
Infection prevention and control measures and tools for the prevention of ent...
Abstract Background Infections with carbapenem-resistant Enterobacteriaceae (CRE) are increasingly being reported from patients in healthcare settings. They are associated with... -
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... -
Parental origin of deletions and duplications - about the necessity to check ...
Abstract Background Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have... -
Maternal eNOS Deficiency Determines a Fatty Liver Phenotype of the Offspring ...
Maternal environmental factors can impact the phenotype of the offspring via the induction of epigenetic adaptive mechanisms. The advanced fetal programming hypothesis proposes... -
SRF modulates seizure occurrence, activity induced gene transcription and hip...
Abstract A hallmark of temporal lobe epilepsy (TLE) is hippocampal neuronal demise and aberrant mossy fiber sprouting. In addition, unrestrained neuronal activity in TLE... -
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... -
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability...
Abstract Background Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early...
