New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants
Sign Up to like & getrecommendations! Published in 2025 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.70019
Abstract: Pathogenic variants in nine genes (AGS1‐9) were mainly reported in patients with Aicardi–Goutières syndrome (AGS), which is a genetic disorder of the innate immune response associated with improper induction of Type I interferon (IFN). These… read more here.
Keywords: pathogenic rnaseh2b; samhd1; phenotypes associated; new phenotypes ... See more keywords
Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neuromuscular Diseases"
DOI: 10.3233/jnd-190424
Abstract: Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness. The spectrum of disease severity ranges from early onset with respiratory… read more here.
Keywords: care; treatment; spinal muscular; muscular atrophy ... See more keywords