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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... -
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... -
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... -
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...
