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research:progress [2010/10/14 18:45] – reformatting danielresearch:progress [2011/05/11 04:14] – external edit 127.0.0.1
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 Although [[http://www.hibm.org/grantguideline | ARM’s grant guideline]] requires reporting of manuscripts, publications and presentations resulting from an ARM funded projects, all publications benefiting from ARM’s support may not be reported to ARM.  Below are a non-comprehensive list of publications, posters and manuscripts that have benefited from ARM’s support, resources, and patient referrals. Although [[http://www.hibm.org/grantguideline | ARM’s grant guideline]] requires reporting of manuscripts, publications and presentations resulting from an ARM funded projects, all publications benefiting from ARM’s support may not be reported to ARM.  Below are a non-comprehensive list of publications, posters and manuscripts that have benefited from ARM’s support, resources, and patient referrals.
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   - [[http://www.ncbi.nlm.nih.gov/pubmed/17962939 |2008]] - Adler RS, Garolfalo G, Paget S, Kagen L. Muscle sonography in six patients with hereditary inclusion body myopathy. Skeletal Radiol. 2008 Jan;37(1):43-8. Epub 2007 Oct 26. PMID: 17962939\\   - [[http://www.ncbi.nlm.nih.gov/pubmed/17962939 |2008]] - Adler RS, Garolfalo G, Paget S, Kagen L. Muscle sonography in six patients with hereditary inclusion body myopathy. Skeletal Radiol. 2008 Jan;37(1):43-8. Epub 2007 Oct 26. PMID: 17962939\\
   - [[http://www.ncbi.nlm.nih.gov/pubmed/17549255 |2007]] - Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest. 2007 Jun;117(6):1585-94. PMID: 17549255\\   - [[http://www.ncbi.nlm.nih.gov/pubmed/17549255 |2007]] - Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest. 2007 Jun;117(6):1585-94. PMID: 17549255\\
-  - [[http://www.ncbi.nlm.nih.gov/pubmed/17261181 | 2007]] Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA.  Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.  BMC Neurol. 2007 Jan 29;7:3.PMID: 17261181+  - [[http://www.ncbi.nlm.nih.gov/pubmed/17261181 | 2007]] - Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA.  Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.  BMC Neurol. 2007 Jan 29;7:3.PMID: 17261181
   - [[http://www.ncbi.nlm.nih.gov/pubmed/16847058 | 2006]] - Wang Z, Sun Z, Li AV, Yarema KJ. Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation. J Biol Chem. 2006 Sep 15;281(37):27016-28. Epub 2006 Jul 17. PMID: 16847058   - [[http://www.ncbi.nlm.nih.gov/pubmed/16847058 | 2006]] - Wang Z, Sun Z, Li AV, Yarema KJ. Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation. J Biol Chem. 2006 Sep 15;281(37):27016-28. Epub 2006 Jul 17. PMID: 16847058
   - [[http://www.ncbi.nlm.nih.gov/pubmed/12409274 | 2002]] - Darvish D, Vahedifar P, Huo Y. Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab. 2002 Nov;77(3):252-6.   - [[http://www.ncbi.nlm.nih.gov/pubmed/12409274 | 2002]] - Darvish D, Vahedifar P, Huo Y. Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab. 2002 Nov;77(3):252-6.