Screening for spinal muscular atrophy

被引:2
作者
Sampaio, Hugo [1 ]
Wilcken, Bridget [1 ,2 ]
Farrar, Michelle [1 ,3 ]
机构
[1] Sydney Childrens Hosp, Sydney, NSW, Australia
[2] Childrens Hosp Westmead, Sydney, NSW, Australia
[3] UNSW Sydney, Sydney, NSW, Australia
关键词
NATURAL-HISTORY; SMN2; GENE; SMA; PCR;
D O I
10.5694/mja17.00772
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:147 / +
页数:3
相关论文
共 17 条
[1]  
[Anonymous], 1968, PUBLIC HLTH PAPERS
[2]  
Bertini E., 2017, Eur J Paediatr Neurol, V21, pe14, DOI [DOI 10.1016/J.EJPN.2017.04.1218, 10.1016/j.ejpn.2017.04.1218]
[3]   Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families [J].
Boardman, Felicity K. ;
Young, Philip J. ;
Griffiths, Frances E. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (02) :421-434
[4]  
Farrar MA, 2018, J NEUROL NEUROSUR PS, DOI [10.1136/jnnp-2016-314292, DOI 10.1136/JNNP-2016-314292]
[5]   Emerging Therapies and Challenges in Spinal Muscular Atrophy [J].
Farrar, Michelle A. ;
Park, Susanna B. ;
Vucic, Steve ;
Carey, Kate A. ;
Turner, Bradley J. ;
Gillingwater, Thomas H. ;
Swoboda, Kathryn J. ;
Kiernan, Matthew C. .
ANNALS OF NEUROLOGY, 2017, 81 (03) :355-368
[6]   Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy [J].
Farrar, Michelle A. ;
Vucic, Steve ;
Johnston, Heather M. ;
du Sart, Desiree ;
Kiernan, Matthew C. .
JOURNAL OF PEDIATRICS, 2013, 162 (01) :155-159
[7]   Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR:: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy [J].
Feldkötter, M ;
Schwarzer, V ;
Wirth, R ;
Wienker, TF ;
Wirth, B .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (02) :358-368
[8]   Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy [J].
Finkel, R. S. ;
Mercuri, E. ;
Darras, B. T. ;
Connolly, A. M. ;
Kuntz, N. L. ;
Kirschner, J. ;
Chiriboga, C. A. ;
Saito, K. ;
Servais, L. ;
Tizzano, E. ;
Topaloglu, H. ;
Tulinius, M. ;
Montes, J. ;
Glanzman, A. M. ;
Bishop, K. ;
Zhong, Z. J. ;
Gheuens, S. ;
Bennett, C. F. ;
Schneider, E. ;
Farwell, W. ;
De Vivo, D. C. .
NEW ENGLAND JOURNAL OF MEDICINE, 2017, 377 (18) :1723-1732
[9]   IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE [J].
LEFEBVRE, S ;
BURGLEN, L ;
REBOULLET, S ;
CLERMONT, O ;
BURLET, P ;
VIOLLET, L ;
BENICHOU, B ;
CRUAUD, C ;
MILLASSEAU, P ;
ZEVIANI, M ;
LEPASLIER, D ;
FREZAL, J ;
COHEN, D ;
WEISSENBACH, J ;
MUNNICH, A ;
MELKI, J .
CELL, 1995, 80 (01) :155-165
[10]   A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 [J].
Monani, UR ;
Lorson, CL ;
Parsons, DW ;
Prior, TW ;
Androphy, EJ ;
Burghes, AHM ;
McPherson, JD .
HUMAN MOLECULAR GENETICS, 1999, 8 (07) :1177-1183