SMN2 deletion in childhood-onset spinal muscular atrophy

被引:3
|
作者
Cobben, JM
de Visser, M
机构
[1] Free Univ Amsterdam, Med Ctr, Dept Clin Genet, NL-1007 MB Amsterdam, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 109卷 / 03期
关键词
D O I
10.1002/ajmg.10354
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:246 / 246
页数:1
相关论文
共 50 条
  • [1] Comment on SMN2 deletion in childhood-onset spinal muscular atrophy
    Ogino, S
    Van Deerlin, VMD
    Wilson, RB
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (03): : 243 - 244
  • [2] SMN2-Deletion in childhood-onset spinal muscular atrophy
    Srivastava, S
    Mukherjee, M
    Panigrahi, I
    Pandey, GS
    Pradhan, S
    Mittal, B
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 101 (03): : 198 - 202
  • [3] Reply to correspondence from Ogino et al. -: "Comment on SMN2 deletion in childhood-onset spinal muscular atrophy"
    Srivastava, S
    Mukherjee, M
    Panigrahi, I
    Pandey, GS
    Mittal, B
    Pradhan, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (03): : 245 - 245
  • [4] CHILDHOOD-ONSET SPINAL MUSCULAR ATROPHY DUE TO SMN2-DELECTION
    Piazza, S.
    Baldinotti, F.
    Fogli, A.
    Carlesi, C.
    Calsolaro, V
    Michelacci, A.
    Simi, P.
    Siciliano, G.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2009, 14 : 22 - 22
  • [5] Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients
    Brkusanin, Milos
    Kosac, Ana
    Jovanovic, Vladimir
    Pesovic, Jovan
    Brajuskovic, Goran
    Dimitrijevic, Nikola
    Todorovic, Slobodanka
    Romac, Stanka
    Rasic, Vedrana Milic
    Savic-Pavicevic, Dusanka
    JOURNAL OF HUMAN GENETICS, 2015, 60 (11) : 723 - 728
  • [6] Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients
    Miloš Brkušanin
    Ana Kosać
    Vladimir Jovanović
    Jovan Pešović
    Goran Brajušković
    Nikola Dimitrijević
    Slobodanka Todorović
    Stanka Romac
    Vedrana Milić Rašić
    Dušanka Savić-Pavićević
    Journal of Human Genetics, 2015, 60 : 723 - 728
  • [7] Reply to correspondence from Cobben and de Visser - "SMN2-deletion in childhood-onset spinal muscular atrophy"
    Srivastava, S
    Mukherjee, M
    Panigrahi, I
    Pandey, GS
    Mittal, B
    Pradhan, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (03): : 247 - 247
  • [8] A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
    Prior, Thomas W.
    Krainer, Adrian R.
    Hua, Yimin
    Swoboda, Kathryn J.
    Snyder, Pamela C.
    Bridgeman, Scott J.
    Burghes, Arthur H. M.
    Kissel, John T.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (03) : 408 - 413
  • [9] Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy
    Watibayati, Mohd Shamshudin
    Fatemeh, Hayati
    Marini, Marzuki
    Atif, Amin Baig
    Zahiruddin, Wan Mohd
    Sasongko, Teguh Haryo
    Tang, Thean Hock
    Zabidi-Hussin, Z. A. M. H.
    Nishio, Hisahide
    Zilfali, Bin Alwi
    BRAIN & DEVELOPMENT, 2009, 31 (01): : 42 - 45
  • [10] Risdiplam SMN2 splicing modulator Treatment of spinal muscular atrophy
    Chiriboga, C. A.
    DRUGS OF THE FUTURE, 2019, 44 (08) : 643 - 658