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5. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. Thurmond J; Butchbach ME; Palomo M; Pease B; Rao M; Bedell L; Keyvan M; Pai G; Mishra R; Haraldsson M; Andresson T; Bragason G; Thosteinsdottir M; Bjornsson JM; Coovert DD; Burghes AH; Gurney ME; Singh J J Med Chem; 2008 Feb; 51(3):449-69. PubMed ID: 18205293 [TBL] [Abstract][Full Text] [Related]
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. [Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy]. Jedrzejowska M; Wiszniewski W; Ryniewicz B; Hausmanowa-Petrusewicz I Med Wieku Rozwoj; 2002; 6(4):319-27. PubMed ID: 12810984 [TBL] [Abstract][Full Text] [Related]
8. Therapeutics development for spinal muscular atrophy. Sumner CJ NeuroRx; 2006 Apr; 3(2):235-45. PubMed ID: 16554261 [TBL] [Abstract][Full Text] [Related]
9. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. Voutoufianakis S; Psoni S; Vorgia P; Tsekoura F; Kekou K; Traeger-Synodinos J; Kitsiou S; Kanavakis E; Fryssira H Eur J Paediatr Neurol; 2007 Jul; 11(4):235-9. PubMed ID: 17276711 [TBL] [Abstract][Full Text] [Related]
10. SMN1 deletions among singaporean patients with spinal muscular atrophy. Lai AH; Tan ES; Law HY; Yoon CS; Ng IS Ann Acad Med Singap; 2005 Jan; 34(1):73-7. PubMed ID: 15726222 [TBL] [Abstract][Full Text] [Related]
11. Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy. El-Khodor BF; Edgar N; Chen A; Winberg ML; Joyce C; Brunner D; Suárez-Fariñas M; Heyes MP Exp Neurol; 2008 Jul; 212(1):29-43. PubMed ID: 18455159 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy. Essawi ML; Effat LK; Shanab GM; Al-Ettribi GM; El-Haronui AA; Karim AM Bratisl Lek Listy; 2007; 108(3):133-7. PubMed ID: 17682539 [TBL] [Abstract][Full Text] [Related]
16. Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling. Shanmugarajan S; Swoboda KJ; Iannaccone ST; Ries WL; Maria BL; Reddy SV J Child Neurol; 2007 Aug; 22(8):967-73. PubMed ID: 17761651 [TBL] [Abstract][Full Text] [Related]
17. Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene. Yiu EM; Ravat S; Ryan MM; Shield LK; Smith LJ; Kornberg AJ Muscle Nerve; 2008 Jul; 38(1):930-2. PubMed ID: 18508340 [TBL] [Abstract][Full Text] [Related]
18. A clinical and genetic study of spinal muscular atrophy. Mishra VN; Kalita J; Kesari A; Mitta B; Shankar SK; Misra UK Electromyogr Clin Neurophysiol; 2004; 44(5):307-12. PubMed ID: 15378871 [TBL] [Abstract][Full Text] [Related]
19. Descriptive epidemiology of spinal muscular atrophy type I in Estonia. Vaidla E; Talvik I; Kulla A; Kahre T; Hamarik M; Napa A; Metsvaht T; Piirsoo A; Talvik T Neuroepidemiology; 2006; 27(3):164-8. PubMed ID: 17035693 [TBL] [Abstract][Full Text] [Related]
20. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests. Botta A; Tacconelli A; Bagni I; Giardina E; Bonifazi E; Pietropolli A; Clementi M; Novelli G Neurology; 2005 Nov; 65(10):1631-5. PubMed ID: 16301493 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]