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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: hubner c. 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
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: hubner c. Nat Genet. 2001 Sep;29(1):75-7. doi: 10.1038/ng703. Nat Genet. 2001. PMID: 11528396
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C. Grohmann K, et al. Among authors: hubner c. Ann Neurol. 2003 Dec;54(6):719-24. doi: 10.1002/ana.10755. Ann Neurol. 2003. PMID: 14681881
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
Guenther UP, Handoko L, Varon R, Stephani U, Tsao CY, Mendell JR, Lützkendorf S, Hübner C, von Au K, Jablonka S, Dittmar G, Heinemann U, Schuetz A, Schuelke M. Guenther UP, et al. Among authors: hubner c. J Mol Med (Berl). 2009 Jan;87(1):31-41. doi: 10.1007/s00109-008-0402-7. Epub 2008 Sep 18. J Mol Med (Berl). 2009. PMID: 18802676
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.
Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nürnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hübner C. Grohmann K, et al. Among authors: hubner c. Am J Hum Genet. 1999 Nov;65(5):1459-62. doi: 10.1086/302636. Am J Hum Genet. 1999. PMID: 10521314 Free PMC article. No abstract available.
423 results