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

来源：

NEUROLOGY | 2023年 / 100卷 / 17期

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

页数：3

共 50 条

[41] A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy [J].

Wang, Li ;

Ji, Yinfeng ;

Chen, Yuqing ;

Bai, Jialin ;

Gao, Peng ;

Feng, Pengchao .

HUMAN MOLECULAR GENETICS, 2022, :971-983

[42] Comment on SMN2 deletion in childhood-onset spinal muscular atrophy [J].

Ogino, S ;

Van Deerlin, VMD ;

Wilson, RB .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (03) :243-244

[43] Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells [J].

Grzeschik, SM ;

Ganta, M ;

Prior, TW ;

Heavlin, WD ;

Wang, CH .

ANNALS OF NEUROLOGY, 2005, 58 (02) :194-202

[44] SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings [J].

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

[45] SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings [J].

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

[46] Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2 [J].

Cartegni, L ;

Hastings, ML ;

Calarco, JA ;

de Stanchina, E ;

Krainer, AR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (01) :63-77

[47] Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy [J].

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

[48] Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity [J].

Yosuke Harada ;

Retno Sutomo ;

Ahmad Hamim Sadewa ;

Tomoko Akutsu ;

Yasuhiro Takeshima ;

Hiroko Wada ;

Masafumi Matsuo ;

Hisahide Nishio .

Journal of Neurology, 2002, 249 :1211-1219

[49] A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2 [J].

Park, Jin-Mo ;

Nishio, Hisahide ;

Shin, Jin-Hong ;

Pak, Jin-Sung .

JOURNAL OF CLINICAL NEUROLOGY, 2019, 15 (03) :395-397

[50] A family with late-onset spinal muscular atrophy with remarkable phenotypic variability, influenced by SMN2 copy number [J].

Park, J. S. ;

Kim, G. H. ;

Kim, D. S. ;

Shin, J. H. .

NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) :887-887

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