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research:progress [2010/09/03 17:05] – added 2010 single patient results danielresearch:progress [2010/10/14 18:46] – daniel
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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/19448634 |2009]] - Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I.  Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.  Nat Med. 2009 Jun;15(6):690-5.PMID: 19448634 [PubMed - indexed for MEDLINE]   - [[http://www.ncbi.nlm.nih.gov/pubmed/19448634 |2009]] - Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I.  Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.  Nat Med. 2009 Jun;15(6):690-5.PMID: 19448634 [PubMed - indexed for MEDLINE]
   - [[http://www.la-press.com/article.php?article_id=881 |2008]] - Jay C, Nemunaitis G, Nemunaitis J, Senzer N, Hinderlich S, Darvish D, Ogden J, Eager J, Tong A, Maples P.  Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2).  Gene Regulation and Systems Biology, Jun 20, 2008, 2008(2):243-252   - [[http://www.la-press.com/article.php?article_id=881 |2008]] - Jay C, Nemunaitis G, Nemunaitis J, Senzer N, Hinderlich S, Darvish D, Ogden J, Eager J, Tong A, Maples P.  Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2).  Gene Regulation and Systems Biology, Jun 20, 2008, 2008(2):243-252
-  - [[http://www.ncbi.nlm.nih.gov/pubmed/18373408?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |2008]] - Valles-Ayoub Y, Saechao C, Haghighatgoo A, Neshat MS, Esfandiarifard S, Pietruszka M, Darvish D. Validation of GNE:p.M712T identification by melting curve analysis. Genet Test. 2008 Mar;12(1):101-9. PMID: 18373408\\ +  - [[http://www.ncbi.nlm.nih.gov/pubmed/18373408 |2008]] - Valles-Ayoub Y, Saechao C, Haghighatgoo A, Neshat MS, Esfandiarifard S, Pietruszka M, Darvish D. Validation of GNE:p.M712T identification by melting curve analysis. Genet Test. 2008 Mar;12(1):101-9. PMID: 18373408\\ 
-  - [[http://www.ncbi.nlm.nih.gov/pubmed/17962939?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum|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?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum|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/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16847058&query_hl=5&itool=pubmed_DocSum|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/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/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12409274&dopt=Abstract|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/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/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11916006&dopt=Abstract|2002]] - Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase / N-acetylmannosamine kinase gene (GNE). J Hum Genet. 2002;47(2):77-9. +  - [[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/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11528398&dopt=Abstract|2001]] - Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7.+  - [[http://www.ncbi.nlm.nih.gov/pubmed/11916006 | 2002]] - Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase / N-acetylmannosamine kinase gene (GNE). J Hum Genet. 2002;47(2):77-9. 
 +  - [[http://www.ncbi.nlm.nih.gov/pubmed/11528398 | 2001]] - Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7.