POLR3A-related spastic ataxia: new mutations and a look into the phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09574-9
Abstract: Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in the POLR3A gene. Here, we present ten new cases of POLR3A-related spastic ataxia and discuss the genetic,… read more here.
Keywords: new mutations; spastic ataxia; polr3a related; ataxia new ... See more keywords
New mutations associated with Hirschsprung disease.
Sign Up to like & getrecommendations! Published in 2020 at "Anales de pediatria"
DOI: 10.1016/j.anpede.2019.05.007
Abstract: INTRODUCTION Hirschsprung Disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have… read more here.
Keywords: new mutations; associated hirschsprung; hirschsprung disease; disease ... See more keywords
MEGDEL Syndrome: Expanding the Phenotype and New Mutations.
Sign Up to like & getrecommendations! Published in 2017 at "Neuropediatrics"
DOI: 10.1055/s-0037-1602833
Abstract: 3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, neuroradiological evidence of Leigh-like disease (MEGDEL syndrome) was initially described in four children with additional features of defective oxidative phosphorylation. Loss of functional variants in the SERAC1 gene was later reported… read more here.
Keywords: new mutations; phenotype new; syndrome expanding; megdel syndrome ... See more keywords
New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis
Sign Up to like & getrecommendations! Published in 2022 at "Circulation Research"
DOI: 10.1161/circresaha.122.320084
Abstract: Pulmonary arterial hypertension (PAH) is a complex multifactorial disease with poor prognosis characterized by functional and structural alterations of the pulmonary circulation causing marked increase in pulmonary vascular resistance, ultimately leading to right heart failure… read more here.
Keywords: pathogenesis pulmonary; pulmonary hypertension; hypertension; mutations pathogenesis ... See more keywords