PLS3 expression and SMA phenotype: a commentary on correlation of PLS3 expression with disease severity in children with spinal muscular atrophy

被引：2

作者：

Nishio, Hisahide ^{[1
]}

机构：

[1] Kobe Univ, Grad Sch Med, Dept Community Med & Social Healthcare Sci, Kobe, Hyogo 657, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2014年 / 59卷 / 02期

关键词：

D O I：

10.1038/jhg.2013.124

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：64 / 65

页数：2

共 44 条

[31] Calpain 3 as a cause of muscular dystrophy: disease frequency, genotype/phenotype correlations, and developmental expression.
Chou, FL
Lee, TC
Bradley, ME
Hoffman, EP
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A328 - A328
[32] Altered immune co-inhibitory receptor expression and correlation of LAG-3 expression to disease severity in NMOSD
Haham, Nitsan
Zveik, Omri
Rechtman, Ariel
Brill, Livnat
Vaknin-Dembinsky, Adi
JOURNAL OF NEUROIMMUNOLOGY, 2024, 388
[33] Efficacy and Safety of Nusinersen in Children with Later-onset Spinal Muscular Atrophy (SMA): End of Study Results from the Phase 3 CHERISH Study
Kuntz, N.
Mercuri, E.
Finkel, R.
Kirschner, J.
Chiriboga, C.
Sun, P.
Gheuens, S.
Bennett, F.
Schneider, E.
Farwell, W.
ANNALS OF NEUROLOGY, 2017, 82 : S264 - S264
[34] Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): end of study results from the phase 3 CHERISH study
Mercuri, E.
Finkel, R.
Kirschner, J.
Chiriboga, C.
Kuntz, N.
Sun, P.
Gheuens, S.
Bennett, C.
Schneider, E.
Farwell, W.
NEUROMUSCULAR DISORDERS, 2017, 27 : S210 - S210
[35] Expression of NLRP3 in serum and induced sputum of children with asthma and their relationship with disease severity
Li, Fei
Liu, Zhiping
EUROPEAN JOURNAL OF MEDICAL RESEARCH, 2024, 29 (01)
[36] Onasemnogene Abeparvovec Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with 3 Copies of SMN2
Strauss, Kevin
Muntoni, Francesco
Farrar, Michelle
Saito, Kayoko
Mendell, Jerry
Servais, Laurent
McMillan, Hugh
Swoboda, Kathryn
Kwon, Jennifer
Zaidman, Craig
Chiriboga, Claudia
Iannaccone, Susan
Krueger, Jena
Parsons, Julie
Shieh, Perry
Kavanagh, Sarah
Chand, Deepa
Tauscher-Wisniewski, Sitra
Macek, Thomas
NEUROLOGY, 2021, 96 (15)
[37] Onasemnogene Abeparvovec Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with 3 Copies of SMN2
McMillan, H.
Strauss, K.
Muntoni, F.
Farrar, M.
Saito, K.
Mendell, J.
Servais, L.
Swoboda, K.
Kwon, J.
Zaidman, C.
Chiriboga, C.
Iannaccone, S.
Krueger, J.
Parsons, J.
ANNALS OF NEUROLOGY, 2021, 90 : S152 - S152
[38] Onasemnogene Abeparvovec Gene Therapy in Presymptomatic spinal muscular atrophy (SMA): SPR1NT study update in children with 3 Copies of SMN2
Strauss, K.
Muntoni, F.
Farrar, M.
Saito, K.
Mendell, J.
Servais, L.
McMillan, H.
Swoboda, K.
Kwon, J.
Zaidman, C.
Chiriboga, C.
Iannaccone, S.
Krueger, J.
Parsons, J.
Shieh, P.
Kavanagh, S.
Chand, D.
Tauscher-Wisniewski, S.
Macek, T.
NEUROMUSCULAR DISORDERS, 2021, 31 : S133 - S133
[39] 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
[40] Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy:: three SMN2 copies fail to rescue some patients from the disease severity
Harada, Y
Sutomo, R
Sadewa, AH
Akutsu, T
Takeshima, Y
Wada, H
Matsuo, M
Nishio, H
JOURNAL OF NEUROLOGY, 2002, 249 (09) : 1211 - 1219

← 1 2 3 4 5 →