Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy
Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, Hideaki Mashimo, Satoko Kumada, Keiko Ishigaki, Nobuhiko Okamoto, Mahdiyeh Behnam, Mohsen Ghadami, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto
Topics & Concepts
Spinal muscular atrophyAtrophyCerebellar hypoplasia (non-human)HypoplasiaBiologyCerebellumPathologyNeuroscienceGeneticsGeneMedicineAnatomyFetal and Pediatric Neurological DisordersCancer-related molecular mechanisms researchRNA modifications and cancer