Developmental and Degenerative Cardiac Defects in the Taiwanese Mouse Model of Severe Spinal Muscular Atrophy

Autor: Thomas H. Gillingwater, Eva Szunyogova, Gillian K. Maxwell, Hannah K. Shorrock, Simon H. Parson

Publikováno v: Maxwell, G K, Szunyogova, E, Shorrock, H, Gillingwater, T & Parson, S H 2018, ' Developmental and Degenerative Cardiac Defects in the Taiwanese Mouse Model of Severe Spinal Muscular Atrophy ', Journal of Anatomy . https://doi.org/10.1111/joa.12793
J Anat

Spinal muscular atrophy (SMA), an autosomal recessive disease caused by a decrease in levels of the survival motor neuron (SMN) protein, is the most common genetic cause of infant mortality. Although neuromuscular pathology is the most severe feature

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ce1aa00a0fb03031a726ddd73ef7bac
https://hdl.handle.net/20.500.11820/befe5a47-e609-410f-89b9-4f596b09f2f8

Corrigendum: Survival Motor Neuron (SMN) protein is required for normal mouse liver development

Autor: Eva, Szunyogova, Haiyan, Zhou, Gillian K, Maxwell, Rachael A, Powis, Francesco, Muntoni, Thomas H, Gillingwater, Simon H, Parson

Publikováno v: Scientific Reports

Spinal Muscular Atrophy (SMA) is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Decreased levels of, cell-ubiquitous, SMN protein is associated with a range of systemic pathologies reported in severe patients. Despite high

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b2844e1a13f27c3ca7ed20bb29c6ec0f
http://europepmc.org/articles/PMC5103256