Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)

By Hahnen Eric   Schönling Jutta   Rudnik-Schöneborn Sabine   Raschke Heidrun   Zerres Klaus   Wirth Brunhilde  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 821-825

Oxford University Press

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Reduced survival motor neuron ( Smn ) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III

By Jablonka Sibylle   Schrank Bertold   Kralewski Martina   Rossoll Wilfried   Sendtner Michael  

Human Molecular Genetics, Vol. 9, Iss. 3, 2000-02 ,pp. : 341-346

Oxford University Press

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Neuromuscular defects in a Drosophila survival motor neuron gene mutant

By Chan Y.B.  

Human Molecular Genetics, Vol. 12, Iss. 12, 2003-06 ,pp. : 1367-1376

Oxford University Press

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Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients

By Vitali Tiziana   Sossi Vittorio   Tiziano Francesco   Zappata Stefania   Giuli Anna   Paravatou-Petsotas Maria   Neri Giovanni   Brahe Christina  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2525-2532

Oxford University Press

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Embryonic motor axon development in the severe SMA mouse

By McGovern Vicki L.   Gavrilina Tatiana O.   Beattie Christine E.   Burghes Arthur H.M.  

Human Molecular Genetics, Vol. 17, Iss. 18, 2008-09 ,pp. : 2900-2909

Oxford University Press

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