Diagnosis of spinal muscular atrophy for deletions of SMN: is it possible?

被引:0
|
作者
Sokolnik, V [1 ]
Khmel, R [1 ]
Tsukerman, G [1 ]
机构
[1] Inst Hereditary Dis, Minsk, BELARUS
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
2464
引用
收藏
页码:601 / 601
页数:1
相关论文
共 50 条
  • [21] Analysis of Deletions in SMN1, SMN2, and NAIPGenes in Spinal Muscular Atrophy Patients from the Northwestern Region of Russia
    A. S. Glotov
    A. V. Kiselev
    T. E. Ivaschenko
    V. S. Baranov
    Russian Journal of Genetics, 2001, 37 : 968 - 971
  • [22] Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy
    Ahn, Eun-Ji
    Yum, Mi-Sun
    Kim, Eun-Hee
    Yoo, Han-Wook
    Lee, Beom Hee
    Kim, Gu-Hwan
    Ko, Tae-Sung
    JOURNAL OF CLINICAL NEUROLOGY, 2017, 13 (01): : 27 - 31
  • [23] Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene
    Bussaglia, E
    Tizzano, EF
    Illa, I
    Cervera, C
    Baiget, M
    NEUROLOGY, 1997, 48 (05) : 1443 - 1445
  • [24] Analysis of deletions in SMN1, SMN2, and NAIP genes in spinal muscular atrophy patients from the northwestern region of Russia
    Glotov, AS
    Kiselev, AV
    Ivaschenko, TE
    Baranov, VS
    RUSSIAN JOURNAL OF GENETICS, 2001, 37 (08) : 968 - 971
  • [25] Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets
    Tsai, Li-Kai
    NEURAL PLASTICITY, 2012, 2012
  • [26] SMN-inducing compounds for the treatment of spinal muscular atrophy
    Lorson, Monique A.
    Lorson, Christian L.
    FUTURE MEDICINAL CHEMISTRY, 2012, 4 (16) : 2067 - 2084
  • [27] Survival motor neuron (SMN) protein in spinal muscular atrophy
    Battaglia, G
    NEUROSCIENCE RESEARCH COMMUNICATIONS, 1999, 25 (02) : 61 - 70
  • [28] Augmenting the SMN Protein to Treat Infantile Spinal Muscular Atrophy
    Kim, Jeong-Ki
    Monani, Umrao R.
    NEURON, 2018, 97 (05) : 1001 - 1003
  • [29] SMN post-translational modifications in spinal muscular atrophy
    Riboldi, Giulietta M. M.
    Faravelli, Irene
    Rinchetti, Paola
    Lotti, Francesco
    FRONTIERS IN CELLULAR NEUROSCIENCE, 2023, 17
  • [30] SMN oligomerization defect correlates with spinal muscular atrophy severity
    Lorson, CL
    Strasswimmer, J
    Yao, JM
    Baleja, JD
    Hahnen, E
    Wirth, B
    Le, T
    Burghes, AHM
    Androphy, EJ
    NATURE GENETICS, 1998, 19 (01) : 63 - 66