[2]. Hua Y, Sahashi K, Hung G, Rigo F, Passini MA, Bennett CF, Krainer AR. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev. 2010 Aug 1; 24(15):16344-44. [3]. Finkel R, Chiriboga C, Vajsar J, et al. Treatment ...
Baseline demographics and hospital admission data were collected including: the reason for admission, total hospital days, days of critical care, days intubated, discharge diagnosis, doses of nusinersen and treatment complications. Results 11 children (six girls) received nusinersen between May 2017 and...
8. Hamilton G and Gillingwater TH. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med. 2013; 19:40-50. 9. Ratni Het al. Discovery of risdiplam, a selective survival motor neuron-2 (SMN2) genesplicing ...
[1].Servais L, Baranello G, Boespflug-Tanguy O, et al. P.109 FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA). Presented at the 27th International Annual Congress of the World Muscle Society, Halifax, Canada, October 11-15, ...
[1] Dabbous, O., et al., Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1. Adv Ther, 2019. 36(5): p. ...
Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1 来自 国家科技图书文献中心 喜欢 0 阅读量: 12 摘要: The natural history of patients with spinal muscular atrophy (SMA) has changed due to advances in standard care and development of targeted treatments....
成人型SMA多于20-30岁以上发病,可呈常染色体隐性、显性和x连锁隐性遗传等遗传方式,人群发病率约为0.32/10000,如图1所示。 SMA于1891 年首次提出,其临床表现变异较大,发病年龄从出生至数十岁,生存时间从数月至成年。1991年,脊髓性肌萎缩国际协作会议根据SMA的临床表型共将其分为 4 型:Ⅰ型,亦称严重型,出生后6...
[1] Dabbous, O., et al., Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1. Adv Ther, 2019. 36(5): p. 1164-1176.
Type 1 Also called Werdnig-Hoffmann disease, this is a severe form of SMA. It’s diagnosed right at birth or up to 6 months of age. Muscle weakness becomes worse very quickly. Your child won’t be able to sit or stand without treatment. ...
We know that careful treatment of your personal data is very important to you. SMA, too, places the utmost importance on protecting personal data. Personal data means any information concerning the personal or material circumstances of an identified or identifiable individual. Examples of personal dat...