| 1 | IGHMBP2, SMARD1
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| IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
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| Guenther UP, Handoko L, Laggerbauer B, Jablonka S, Chari A, Alzheimer M, Ohmer J, Plöttner O, Gehring N, Sickmann A, von Au K, Schuelke M, Fischer U.
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| Hum Mol Genet 18(7):1288-300. Epub 2009 Jan 20.
2009
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| 2 | IGHMBP2, SMARD1
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| Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
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| de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z.
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| Hum Mol Genet 18(12):2115-26. Epub 2009 Mar 19.
2009
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| 3 | IGHMBP2, SMARD1
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| Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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| Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Schuelke M, Hübner C, von Au K.
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| J Child Neurol 23(2):199-204.PMID: 18263757 2008
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| 4 | IGHMBP2, SMARD1
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| Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
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| Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hubner C, von Au K, Schuelke M.
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| Hum Mutat 28(8):808-15. 2007
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| 5 | IGHMBP2, SMARD1
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| A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.
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| Hartley L, Kinali M, Knight R, Mercuri E, Hubner C, Bertini E, Manzur AY, Jimenez-Mallebrera C, Sewry CA, Muntoni F.
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| Neuromuscul Disord 17(2):174-9. Epub 2007 Jan 22.
2007
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| 6 | IGHMBP2, SMARD1
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| Mutation of gene in spinal muscular atrophy respiratory distress type I.
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| Wong VC, Chung BH, Li S, Goh W, Lee SL.
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| Pediatr Neurol 34(6):474-7. 2006
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| 7 | IGHMBP2, SMARD1
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| Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival.
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| Maddatu TP, Garvey SM, Schroeder DG, Zhang W, Kim SY, Nicholson AI, Davis CJ, Cox GA.
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| Hum Mol Genet 14(21):3179-89. Epub 2005 Sep 20. 2005
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| 8 | IGHMBP2, SMARD1
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| A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
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| Tachi N, Kikuchi S, Kozuka N, Nogami A.
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| Pediatr Neurol 32(4):288-90. 2005
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| 9 | CBSMA, CMT2C, DMNJ, DSMAVA, DSMAX, SMAR, SMARD1, SPSMA
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| A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.
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| Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M.
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| J Med Genet 41(3):224-9. No abstract available. 2004
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| 10 | SMARD1, IGHMBP2
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| Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
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| Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hubner C, Varon R.
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| Hum Genet um Genet. 2004 Jul 29 [Epub ahead of print] 2004
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| 11 | SMARD1, IGHMBP2
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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).
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| Grohmann K, Rossoll W, Kobsar I, Holtmann B, Jablonka S, Wessig C, Stoltenburg-Didinger G, Fischer U, Hubner C, Martini R, Sendtner M.
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| Hum Mol Genet 13(18):2031-42. Epub 2004 Jul 21. 2004
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| 12 | SMARD1
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| Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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| Rudnik-Schoneborn S, Stolz P, Varon R, Grohmann K, Schachtele M, Ketelsen UP, Stavrou D, Kurz H, Hubner C, Zerres K.
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| Neuropediatrics 35(3):174-82. 2004
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| 13 | SMARD1, IGHMBP2
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| Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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| Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmuller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloglu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schoneborn S, Hubner C.
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| Ann Neurol 54(6):719-24. 2003
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| 14 | IGHMBP2, SMARD1
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| Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
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| 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-Schoneborn S, Zerres K, Hubner C.
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| Nat Genet 29(1):75-7. 2001
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| 15 | SMARD1
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| Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21.
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| Grohmann K, Wienker TF, Saar K, Rudnik-Schoneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nurnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hubner C.
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| Am J Hum Genet 65(5):1459-1462. No abstract available 1999
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