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Results: 14

Select item 229651301.

The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.

Lim SC, Bowler MW, Lai TF, Song H.

Nucleic Acids Res. 2012 Nov;40(21):11009-22. doi: 10.1093/nar/gks792. Epub 2012 Sep 10.

PMID:: 22965130; [PubMed - indexed for MEDLINE]

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Select item 221571362.

The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Eckart M, Guenther UP, Idkowiak J, Varon R, Grolle B, Boffi P, Van Maldergem L, Hübner C, Schuelke M, von Au K.

Pediatrics. 2012 Jan;129(1):e148-56. doi: 10.1542/peds.2011-0544. Epub 2011 Dec 12.

PMID:: 22157136; [PubMed - indexed for MEDLINE]

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Select item 220992583.

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.

Messina MF, Messina S, Gaeta M, Rodolico C, Salpietro Damiano AM, Lombardo F, Crisafulli G, De Luca F.

Eur J Paediatr Neurol. 2012 Jan;16(1):90-4. doi: 10.1016/j.ejpn.2011.10.005. Epub 2011 Nov 18. Review.

PMID:: 22099258; [PubMed - indexed for MEDLINE]

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Select item 219026524.

Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.

Drew AP, Blair IP, Nicholson GA.

Curr Mol Med. 2011 Nov;11(8):650-65. Review.

PMID:: 21902652; [PubMed - indexed for MEDLINE]

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Select item 213537775.

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.

Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W.

Neuromuscul Disord. 2011 May;21(5):353-5. doi: 10.1016/j.nmd.2011.02.005. Epub 2011 Feb 25.

PMID:: 21353777; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 208598326.

A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian patient with giant cell hepatitis.

Fanos V, Cuccu A, Nemolato S, Marinelli V, Faa G.

Neuropediatrics. 2010 Jun;41(3):132-4. doi: 10.1055/s-0030-1262852. Epub 2010 Sep 21.

PMID:: 20859832; [PubMed - indexed for MEDLINE]

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Select item 204417877.

Characterization of the promoter region of the human IGHMBP2 (Smubp-2) gene and its response to TPA in HL-60 cells.

Uchiumi F, Enokida K, Shiraishi T, Masumi A, Tanuma S.

Gene. 2010 Sep 1;463(1-2):8-17. doi: 10.1016/j.gene.2010.04.014. Epub 2010 May 2.

PMID:: 20441787; [PubMed - indexed for MEDLINE]

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Select item 201972678.

Infantile spinal muscular atrophy with respiratory distress type 1: a case report.

AlSaman A, Tomoum H.

J Child Neurol. 2010 Jun;25(6):764-9. doi: 10.1177/0883073809344121. Epub 2010 Mar 1.

PMID:: 20197267; [PubMed - indexed for MEDLINE]

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Select item 200319289.

Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.

Lou T, Zhang J, Gale DP, Rees AJ, Rhodes B, Feehally J, Li C, Li Y, Li R, Huang W, Hu B, Leung JC, Lam MF, Lai KN, Wang Y, Maxwell PH.

Nephrol Dial Transplant. 2010 May;25(5):1547-54. doi: 10.1093/ndt/gfp661. Epub 2009 Dec 22. Erratum in: Nephrol Dial Transplant. 2010 Jul;25(7):1.

PMID:: 20031928; [PubMed - indexed for MEDLINE]

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Select item 1929949310.

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.

de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z.

Hum Mol Genet. 2009 Jun 15;18(12):2115-26. doi: 10.1093/hmg/ddp134. Epub 2009 Mar 19.

PMID:: 19299493; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 1880267611.

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.

J Mol Med (Berl). 2009 Jan;87(1):31-41. doi: 10.1007/s00109-008-0402-7. Epub 2008 Sep 18.

PMID:: 18802676; [PubMed - indexed for MEDLINE]

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Select item 1829831812.

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.

Basel-Vanagaite L, Taub E, Drasinover V, Magal N, Brudner A, Zlotogora J, Shohat M.

Genet Test. 2008 Mar;12(1):53-6. doi: 10.1089/gte.2007.0030.

PMID:: 18298318; [PubMed - indexed for MEDLINE]

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Select item 1818747913.

Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations.

Kühnlein P, Sperfeld AD, Endruhn S, Varon R, Ludolph AC, Hübner C.

J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):737-8. doi: 10.1136/jnnp.2007.139006. Epub 2008 Jan 10. No abstract available.

PMID:: 18187479; [PubMed - indexed for MEDLINE]

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Select item 1743188214.

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M.

Hum Mutat. 2007 Aug;28(8):808-15.

PMID:: 17431882; [PubMed - indexed for MEDLINE]

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3 free full-text articles in PubMed Central

The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1. [Nucleic Acids Res. 2012]
The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.
Lim SC, Bowler MW, Lai TF, Song H. Nucleic Acids Res. 2012 Nov; 40(21):11009-22. Epub 2012 Sep 10.
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. [Neuromuscul Disord. 2011]
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.
Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W. Neuromuscul Disord. 2011 May; 21(5):353-5. Epub 2011 Feb 25.
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. [Hum Mol Genet. 2009]
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z. Hum Mol Genet. 2009 Jun 15; 18(12):2115-26. Epub 2009 Mar 19.

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