Functional analyses of SMN/SMNc gene expression: therapeutic implications in Spinal Muscular Atrophy.

被引：0
|
作者：
Burlet, P [1 ]
Bertrandy, S [1 ]
Vial, E [1 ]
Viollet, L [1 ]
Munnich, A [1 ]
Lefebvre, S [1 ]
机构：
[1] Hop Necker Enfants Malad, INSERM U393, Paris, France
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
1729
引用
收藏
页码：A308 / A308
页数：1
相关论文
共 50 条
  • [41] Fracture risk in patients with muscular dystrophy and spinal muscular atrophy.
    Vestergaard, P
    Glerup, H
    Steffensen, BF
    Reinmark, L
    Rahbek, J
    Mosekilde, L
    JOURNAL OF BONE AND MINERAL RESEARCH, 2000, 15 : S293 - S293
  • [42] SMN protein studies in spinal muscular atrophy
    Vainzof, M
    Canovas, M
    Cerqueira, A
    Man, NT
    Morris, GE
    Zatz, M
    NEUROMUSCULAR DISORDERS, 2001, 11 (6-7) : 647 - 648
  • [43] Resting-state functional connectivity in children and adults with spinal muscular atrophy.
    Groulx-Boivin, E.
    Carlson, H.
    Oliveira-Carneiro, A.
    Floer, A.
    Kirton, A.
    Mah, J.
    Saint-Martin, C.
    La Piana, R.
    Oskoui, M.
    ANNALS OF NEUROLOGY, 2025, 96 : S145 - S145
  • [44] Identification of a novel mutation of the SMNT gene in two siblings with spinal muscular atrophy.
    Wang, CH
    Bruinsma, P
    Papendick, BD
    Days, JK
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A349 - A349
  • [45] RNA in spinal muscular atrophy: therapeutic implications of targeting
    Singh, Ravindra N.
    Seo, Joonbae
    Singh, Natalia N.
    EXPERT OPINION ON THERAPEUTIC TARGETS, 2020, 24 (08) : 731 - 743
  • [46] Proteostasis of SMN and SMNΔ7 proteins implicated in spinal muscular atrophy
    Sanchez-Lanzas, R.
    Alvarez-Castelao, B.
    Castano, J. G.
    FEBS JOURNAL, 2012, 279 : 379 - 379
  • [47] Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China
    Liu, W. L.
    Li, F.
    He, Z. X.
    Ai, R.
    Ma, H. W.
    GENETICS AND MOLECULAR RESEARCH, 2013, 12 (03) : 3598 - 3604
  • [48] A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    Lorson, CL
    Hahnen, E
    Androphy, EJ
    Wirth, B
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (11) : 6307 - 6311
  • [49] DELETION ANALYSIS OF THE SMN GENE IN INFANTILE AND ADULT SPINAL MUSCULAR-ATROPHY
    BRAHE, C
    ZAPPATA, S
    TIZIANO, F
    GANDOLFI, N
    PARAVATOUPETSOTAS, M
    NERI, G
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1199 - 1199
  • [50] Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy
    Catia Andreassi
    Carla Angelozzi
    Francesco D Tiziano
    Tiziana Vitali
    Eleonora De Vincenzi
    Alma Boninsegna
    Marcello Villanova
    Enrico Bertini
    Antonella Pini
    Giovanni Neri
    Christina Brahe
    European Journal of Human Genetics, 2004, 12 : 59 - 65
12345