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6. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B Hum Mutat; 2005 Jan; 25(1):64-71. PubMed ID: 15580564 [TBL] [Abstract][Full Text] [Related]
7. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Veldink JH; Kalmijn S; Van der Hout AH; Lemmink HH; Groeneveld GJ; Lummen C; Scheffer H; Wokke JH; Van den Berg LH Neurology; 2005 Sep; 65(6):820-5. PubMed ID: 16093455 [TBL] [Abstract][Full Text] [Related]
8. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Dominguez E; Marais T; Chatauret N; Benkhelifa-Ziyyat S; Duque S; Ravassard P; Carcenac R; Astord S; Pereira de Moura A; Voit T; Barkats M Hum Mol Genet; 2011 Feb; 20(4):681-93. PubMed ID: 21118896 [TBL] [Abstract][Full Text] [Related]
9. [Quantitative analysis of the genes determining spinal muscular atrophy]. Nagymihály M; Herczegfalvi A; Tímár L; Karcagi V Ideggyogy Sz; 2009 Nov; 62(11-12):390-7. PubMed ID: 20025129 [TBL] [Abstract][Full Text] [Related]
10. Spinal muscular atrophy: from animal model to clinical trial. Zanoteli E; Maximino JR; Conti Reed U; Chadi G Funct Neurol; 2010; 25(2):73-9. PubMed ID: 20923604 [TBL] [Abstract][Full Text] [Related]
11. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Riessland M; Ackermann B; Förster A; Jakubik M; Hauke J; Garbes L; Fritzsche I; Mende Y; Blumcke I; Hahnen E; Wirth B Hum Mol Genet; 2010 Apr; 19(8):1492-506. PubMed ID: 20097677 [TBL] [Abstract][Full Text] [Related]
12. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Cobb MS; Rose FF; Rindt H; Glascock JJ; Shababi M; Miller MR; Osman EY; Yen PF; Garcia ML; Martin BR; Wetz MJ; Mazzasette C; Feng Z; Ko CP; Lorson CL Hum Mol Genet; 2013 May; 22(9):1843-55. PubMed ID: 23390132 [TBL] [Abstract][Full Text] [Related]
13. Spinal muscular atrophy: state-of-the-art and therapeutic perspectives. Wirth B Amyotroph Lateral Scler Other Motor Neuron Disord; 2002 Jun; 3(2):87-95. PubMed ID: 12215230 [TBL] [Abstract][Full Text] [Related]
14. [Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy]. Long MJ; Song F; Qu YJ; Meng Y; Wang H; Jin YW; Huang SZ Zhonghua Yi Xue Za Zhi; 2008 May; 88(18):1259-63. PubMed ID: 18844099 [TBL] [Abstract][Full Text] [Related]
15. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Wirth B Hum Mutat; 2000; 15(3):228-37. PubMed ID: 10679938 [TBL] [Abstract][Full Text] [Related]
16. [The role of RNA splicing in the pathogenesis of spinal muscular atrophy and development of its therapeutics]. Sahashi K; Sobue G Brain Nerve; 2014 Dec; 66(12):1471-80. PubMed ID: 25475034 [TBL] [Abstract][Full Text] [Related]
17. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Ogino S; Wilson RB Hum Genet; 2002 Dec; 111(6):477-500. PubMed ID: 12436240 [TBL] [Abstract][Full Text] [Related]
18. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Monani UR Neuron; 2005 Dec; 48(6):885-96. PubMed ID: 16364894 [TBL] [Abstract][Full Text] [Related]
19. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Grzeschik SM; Ganta M; Prior TW; Heavlin WD; Wang CH Ann Neurol; 2005 Aug; 58(2):194-202. PubMed ID: 16049920 [TBL] [Abstract][Full Text] [Related]