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403 related items for PubMed ID: 20696672

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  • 4. 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
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  • 5. 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 15; 20(4):681-93. PubMed ID: 21118896
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  • 7. 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 22; 65(10):1631-5. PubMed ID: 16301493
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  • 9. Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
    Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, Zvara A, Santha M, LeGall I, Simonneau M.
    Eur J Hum Genet; 2004 Sep 22; 12(9):729-37. PubMed ID: 15162126
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  • 16. 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 22; 212(1):29-43. PubMed ID: 18455159
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  • 17. Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
    Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K.
    J Med Genet; 2008 Oct 22; 45(10):635-8. PubMed ID: 18662980
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  • 18. Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy.
    Shababi M, Habibi J, Ma L, Glascock JJ, Sowers JR, Lorson CL.
    J Mol Cell Cardiol; 2012 May 22; 52(5):1074-82. PubMed ID: 22285962
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  • 19. Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy.
    Jablonka S, Karle K, Sandner B, Andreassi C, von Au K, Sendtner M.
    Hum Mol Genet; 2006 Feb 01; 15(3):511-8. PubMed ID: 16396995
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  • 20. [Molecular basis of spinal muscular atrophy: th SMN gene].
    Tizzano E, Baiget M.
    Neurologia; 2000 Nov 01; 15(9):393-400. PubMed ID: 11195146
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