Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of c BCD541 and SMA Phenotype

By Velasco Eladio   Valero Carmen   Valero Ana   Moreno Felipe   Hernández-Chico Concepción  

Human Molecular Genetics, Vol. 5, Iss. 2, 1996-01 ,pp. : 257-263

Oxford University Press

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Animal models of spinal muscular atrophy

By Monani Umrao R.  

Human Molecular Genetics, Vol. 9, Iss. 16, 2000-10 ,pp. : 2451-2457

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Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy

By Minamiyama Makoto   Katsuno Masahisa   Adachi Hiroaki   Waza Masahiro   Sang Chen   Kobayashi Yasushi   Tanaka Fumiaki   Doyu Manabu   Inukai Akira   Sobue Gen  

Human Molecular Genetics, Vol. 13, Iss. 11, 2004-06 ,pp. : 1183-1192

Oxford University Press

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Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

By Butchbach Matthew E.R.   Singh Jasbir   orsteinsdttir Margrt   Saieva Luciano   Slominski Elzbieta   Thurmond John   Andrsson Thorkell   Zhang Jun   Edwards Jonathan D.   Simard Louise R.   Pellizzoni Livio   Jarecki Jill   Burghes Arthur H.M.   Gurney Mark E.  

Human Molecular Genetics, Vol. 19, Iss. 3, 2010-02 ,pp. : 454-467

Oxford University Press

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An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene

By Parsons D. Williams   McAndrew Patricia E.   Monani Umrao R.   Mendell Jerry R.   Burghes Arthur H. M.   Prior Thomas W.  

Human Molecular Genetics, Vol. 5, Iss. 11, 1996-11 ,pp. : 1727-1732

Oxford University Press

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