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Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C. Grohmann K, et al. Among authors: sendtner m. Nat Genet. 2001 Sep;29(1):75-7. doi: 10.1038/ng703. Nat Genet. 2001. PMID: 11528396
Molecular and cellular basis of spinal muscular atrophy.
Jablonka S, Sendtner M. Jablonka S, et al. Among authors: sendtner m. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):144-9. doi: 10.1080/14660820310011296. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 13129800 Review.
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K, Rossoll W, Kobsar I, Holtmann B, Jablonka S, Wessig C, Stoltenburg-Didinger G, Fischer U, Hübner C, Martini R, Sendtner M. Grohmann K, et al. Among authors: sendtner m. Hum Mol Genet. 2004 Sep 15;13(18):2031-42. doi: 10.1093/hmg/ddh222. Epub 2004 Jul 21. Hum Mol Genet. 2004. PMID: 15269181
249 results