Browsing by Author "Butoianu N"

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  • Bladen CL; Thompson R; Jackson JM; Garland C; Wegel C; Schreiber O; Lusakowska A; Jedrzejowska M; Kostera-Pruszczyk A; van der Pol L; Wadman RI; Gredal O; Karaduman A; Topaloglu H; Yilmaz O; Matyushenko V; Rasic VM; Kosac A; Karcagi, Veronika; Garami M; Herczegfalvi, Ágnes; Monges S; Moresco A; Chertkoff L; Chamova T; Guergueltcheva V; Butoianu N; Craiu D; Korngut L; Campbell C; Haberlova J; Strenkova J; Alejandro M; Jimenez A; Ortiz GG; Enriquez GV; Rodrigues M; Roxburgh R; Dawkins H; Youngs L; Lahdetie J; Angelkova N; Saugier-Veber P; Cuisset JM; Bloetzer C; Jeannet PY; Klein A; Nascimento A; Tizzano E; Salgado D; Mercuri E; Sejersen T; Kirschner J; Rafferty K; Straub V; Bushby K; Verschuuren J; Beroud C; Lochmuller H (2014)
    Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron ...

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