The Use of Onasemnogene-abeparvovec at 33 weeks' gestation in Spinal Muscular Atrophy with One Copy of SMN2

被引:1
|
作者
Ajjarapu, Aparna [1 ]
Ramachandra, Divya [2 ]
Mathews, Katherine [1 ]
机构
[1] Univ Iowa, Carver Coll Med, Dept Neurol, Iowa City, IA USA
[2] Advocate Childrens Hosp, Dept Genet, Park Ridge, IL USA
关键词
D O I
10.1212/WNL.0000000000203032
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P2-8.013
引用
收藏
页数:3
相关论文
共 50 条
  • [41] A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy
    Wang, Li
    Ji, Yinfeng
    Chen, Yuqing
    Bai, Jialin
    Gao, Peng
    Feng, Pengchao
    HUMAN MOLECULAR GENETICS, 2022, : 971 - 983
  • [42] Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
    Grzeschik, SM
    Ganta, M
    Prior, TW
    Heavlin, WD
    Wang, CH
    ANNALS OF NEUROLOGY, 2005, 58 (02) : 194 - 202
  • [43] SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings
    Cuscó, I
    Barceló, MJ
    Rojas-García, R
    Illa, I
    Gámez, J
    Cervera, C
    Pou, A
    Izquierdo, G
    Baiget, M
    Tizzano, EF
    JOURNAL OF NEUROLOGY, 2006, 253 (01) : 21 - 25
  • [44] SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings
    I. Cuscó
    M. J. Barceló
    R. Rojas–García
    I. Illa
    J. Gámez
    C. Cervera
    A. Pou
    G. Izquierdo
    M. Baiget
    E. F. Tizzano
    Journal of Neurology, 2006, 253 : 21 - 25
  • [45] Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
    Cartegni, L
    Hastings, ML
    Calarco, JA
    de Stanchina, E
    Krainer, AR
    AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (01) : 63 - 77
  • [46] Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy
    Ma, Kai
    Zhang, Kaihui
    Chen, Defang
    Wang, Chuan
    Abdalla, Mohnad
    Zhang, Haozheng
    Tian, Rujin
    Liu, Yang
    Song, Li
    Zhang, Xinyi
    Liu, Fangfang
    Liu, Guohua
    Wang, Dong
    HUMAN MOLECULAR GENETICS, 2024, 33 (13) : 1120 - 1130
  • [47] Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity
    Yosuke Harada
    Retno Sutomo
    Ahmad Hamim Sadewa
    Tomoko Akutsu
    Yasuhiro Takeshima
    Hiroko Wada
    Masafumi Matsuo
    Hisahide Nishio
    Journal of Neurology, 2002, 249 : 1211 - 1219
  • [48] A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2
    Park, Jin-Mo
    Nishio, Hisahide
    Shin, Jin-Hong
    Pak, Jin-Sung
    JOURNAL OF CLINICAL NEUROLOGY, 2019, 15 (03): : 395 - 397
  • [49] Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls
    Fang, Ping
    Li, Liang
    Zeng, Jian
    Zhou, Wan-Jun
    Wu, Wei-Qing
    Zhong, Ze-Yan
    Yan, Ti-Zhen
    Xie, Jian-Sheng
    Huang, Jing
    Lin, Li
    Zhao, Ying
    Xu, Xiang-Min
    BMC MUSCULOSKELETAL DISORDERS, 2015, 16
  • [50] A family with late-onset spinal muscular atrophy with remarkable phenotypic variability, influenced by SMN2 copy number
    Park, J. S.
    Kim, G. H.
    Kim, D. S.
    Shin, J. H.
    NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 887 - 887