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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1996 2
1997 1
1999 1
2000 3
2001 1
2002 7
2003 9
2004 7
2005 6
2006 5
2007 9
2008 8
2009 4
2010 8
2011 9
2012 8
2013 8
2014 7
2015 6
2016 3
2017 1
2018 3
2019 6
2020 1
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107 results
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Page 1
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.
Krause S, Schlotter-Weigel B, Walter MC, Najmabadi H, Wiendl H, Müller-Höcker J, Müller-Felber W, Pongratz D, Lochmüller H. Krause S, et al. Neuromuscul Disord. 2003 Dec;13(10):830-4. doi: 10.1016/s0960-8966(03)00140-8. Neuromuscul Disord. 2003. PMID: 14678807
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
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. Eisenberg I, et al. Nat Genet. 2001 Sep;29(1):83-7. doi: 10.1038/ng718. Nat Genet. 2001. PMID: 11528398
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S. Eisenberg I, et al. Hum Mutat. 2003 Jan;21(1):99. doi: 10.1002/humu.9100. Hum Mutat. 2003. PMID: 12497639
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I. Nishino I, et al. Neurology. 2002 Dec 10;59(11):1689-93. doi: 10.1212/01.wnl.0000041631.28557.c6. Neurology. 2002. PMID: 12473753
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins.
Saito F, Tomimitsu H, Arai K, Nakai S, Kanda T, Shimizu T, Mizusawa H, Matsumura K. Saito F, et al. Neuromuscul Disord. 2004 Feb;14(2):158-61. doi: 10.1016/j.nmd.2003.09.006. Neuromuscul Disord. 2004. PMID: 14733963
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