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Items: 1 to 20 of 114

1.

Novel GNE mutations in two phenotypically distinct HIBM2 patients.

Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M.

Neuromuscul Disord. 2011 Feb;21(2):102-5. doi: 10.1016/j.nmd.2010.11.002. Epub 2010 Dec 4.

2.

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB.

BMC Med Genet. 2011 Jun 28;12:87. doi: 10.1186/1471-2350-12-87.

3.

Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H.

Neurology. 2002 Aug 13;59(3):451-4.

PMID:
12177386
4.

The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

Grandis M, Gulli R, Cassandrini D, Gazzerro E, Benedetti L, Narciso E, Nobbio L, Bruno C, Minetti C, Bellone E, Reni L, Mancardi GL, Mandich P, Schenone A.

Neurol Sci. 2010 Jun;31(3):377-80. doi: 10.1007/s10072-010-0248-y. Epub 2010 Mar 19.

PMID:
20300792
5.

Novel GNE compound heterozygous mutations in a GNE myopathy patient.

Cai H, Yabe I, Shirai S, Nishimura H, Hirotani M, Kano T, Houzen H, Yoshida K, Sasaki H.

Muscle Nerve. 2013 Oct;48(4):594-8. doi: 10.1002/mus.23862. Epub 2013 Aug 30.

PMID:
23558691
6.

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H.

J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1359-65. doi: 10.1136/jnnp-2013-306314. Epub 2014 Apr 2.

PMID:
24695763
7.

Hereditary inclusion body myopathy: a decade of progress.

Huizing M, Krasnewich DM.

Biochim Biophys Acta. 2009 Sep;1792(9):881-7. doi: 10.1016/j.bbadis.2009.07.001. Epub 2009 Jul 24. Review.

8.

Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles.

Liu N, Wang ZK, Wang HX, Li Y, Niu ZH, Yu XF.

Neuroreport. 2015 Jul 8;26(10):598-601. doi: 10.1097/WNR.0000000000000396.

PMID:
26053703
9.

Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy.

Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F.

Neuromuscul Disord. 2005 May;15(5):361-3.

PMID:
15833430
10.

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.

Neuromuscul Disord. 2003 Dec;13(10):830-4.

PMID:
14678807
11.

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.

Nonaka I, Noguchi S, Nishino I.

Curr Neurol Neurosci Rep. 2005 Feb;5(1):61-5. Review.

PMID:
15676110
12.

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.

Mori-Yoshimura M, Monma K, Suzuki N, Aoki M, Kumamoto T, Tanaka K, Tomimitsu H, Nakano S, Sonoo M, Shimizu J, Sugie K, Nakamura H, Oya Y, Hayashi YK, Malicdan MC, Noguchi S, Murata M, Nishino I.

J Neurol Sci. 2012 Jul 15;318(1-2):100-5. doi: 10.1016/j.jns.2012.03.016. Epub 2012 Apr 14.

PMID:
22507750
13.

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.

Neurology. 2002 Dec 10;59(11):1689-93.

PMID:
12473753
14.

Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.

Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ.

Clin Neuropathol. 2010 Mar-Apr;29(2):71-7.

15.

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.

Hum Mutat. 2003 Jan;21(1):99.

PMID:
12497639
16.

Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.

No D, Valles-Ayoub Y, Carbajo R, Khokher Z, Sandoval L, Stein B, Tarnopolsky MA, Mozaffar T, Darvish B, Pietruszka M, Darvish D.

Genet Test Mol Biomarkers. 2013 May;17(5):376-82. doi: 10.1089/gtmb.2012.0408. Epub 2013 Feb 25.

PMID:
23437777
17.

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I.

Hum Mol Genet. 2007 Jan 15;16(2):115-28. Epub 2006 Dec 12. Retraction in: Hum Mol Genet. 2007 Nov 1;16(21):2647.

PMID:
17164266
18.

Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.

Park YE, Kim HS, Choi ES, Shin JH, Kim SY, Son EH, Lee CH, Kim DS.

J Neurol Sci. 2012 Oct 15;321(1-2):77-81. doi: 10.1016/j.jns.2012.07.061. Epub 2012 Aug 9.

PMID:
22883483
19.

Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.

Stober A, Aleo A, Kuhl V, Bornemann A, Walter MC, Lochmüller H, Lindner A, Krause S.

Neuromuscul Disord. 2010 May;20(5):335-6. doi: 10.1016/j.nmd.2010.02.013. Epub 2010 Mar 25.

PMID:
20346669
20.

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I.

Hum Mol Genet. 2007 Nov 15;16(22):2669-82. Epub 2007 Aug 18.

PMID:
17704511

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