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    Results: 1 to 20 of 25

    1.

    Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms.

    Mussche S, De Paepe B, Smet J, Devreese K, Lissens W, Rasic VM, Murnane M, Devreese B, Van Coster R.

    Muscle Nerve. 2012 Aug;46(2):246-56. doi: 10.1002/mus.23306.

    PMID:
    22806374
    [PubMed - indexed for MEDLINE]
    2.

    BAG3 mutations: another cause of giant axonal neuropathy.

    Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM.

    J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x.

    PMID:
    22734908
    [PubMed - indexed for MEDLINE]
    3.

    Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

    Van der Aa N, Vandeweyer G, Reyniers E, Kenis S, Dom L, Mortier G, Rooms L, Kooy RF.

    Autism Res. 2012 Aug;5(4):277-81. doi: 10.1002/aur.1240. Epub 2012 Jun 11.

    PMID:
    22689534
    [PubMed - indexed for MEDLINE]
    4.

    Administration of autologous bone marrow-derived mononuclear cells in children with incurable neurological disorders and injury is safe and improves their quality of life.

    Sharma A, Gokulchandran N, Chopra G, Kulkarni P, Lohia M, Badhe P, Jacob VC.

    Cell Transplant. 2012;21 Suppl 1:S79-90. doi: 10.3727/096368912X633798.

    PMID:
    22507683
    [PubMed - indexed for MEDLINE]
    5.

    Clinicogenetical features of a Japanese patient with giant axonal neuropathy.

    Akagi M, Mohri I, Iwatani Y, Kagitani-Shimono K, Okinaga T, Sakai N, Ozono K, Taniike M.

    Brain Dev. 2012 Feb;34(2):156-62. doi: 10.1016/j.braindev.2011.02.003. Epub 2011 Feb 26.

    PMID:
    21356581
    [PubMed - indexed for MEDLINE]
    6.

    Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.

    Buysse K, Vergult S, Mussche S, Ceuterick-de Groote C, Speleman F, Menten B, Lissens W, Van Coster R.

    Am J Med Genet A. 2010 Nov;152A(11):2802-4. doi: 10.1002/ajmg.a.33508.

    PMID:
    20949505
    [PubMed - indexed for MEDLINE]
    7.

    Success of oxandrelone in the treatment of decubitus ulcers.

    Madden KB, Stampas A, Forman SB.

    J Drugs Dermatol. 2010 Jun;9(6):711-2.

    PMID:
    20645538
    [PubMed - indexed for MEDLINE]
    8.

    Application of autologous bone marrow stem cells in giant axonal neuropathy.

    Sharma A, Gokulchandran N, Kulkarni P, Chopra G.

    Indian J Med Sci. 2010 Jan;64(1):41-4. doi: 10.4103/0019-5359.92487.

    PMID:
    22301809
    [PubMed - indexed for MEDLINE]
    Free Article
    9.

    Gigaxonin mutation analysis in patients with NIFID.

    Dequen F, Cairns NJ, Bigio EH, Julien JP.

    Neurobiol Aging. 2011 Aug;32(8):1528-9. doi: 10.1016/j.neurobiolaging.2009.08.018. Epub 2009 Sep 26.

    PMID:
    19782434
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

    Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A.

    Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007.

    PMID:
    19520207
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies.

    Ravishankar S, Goel G, Rautenstrauss CP, Nalini A.

    Neurol India. 2009 Mar-Apr;57(2):181-4. doi: 10.4103/0028-3886.51290.

    PMID:
    19439850
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Onset of human cytomegalovirus replication in fibroblasts requires the presence of an intact vimentin cytoskeleton.

    Miller MS, Hertel L.

    J Virol. 2009 Jul;83(14):7015-28. doi: 10.1128/JVI.00398-09. Epub 2009 Apr 29.

    PMID:
    19403668
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Clinical and genetic studies in a Chinese family with giant axonal neuropathy.

    Zhang LP, Zou LP.

    J Child Neurol. 2009 Dec;24(12):1552-6. doi: 10.1177/0883073809332703. Epub 2009 Mar 18.

    PMID:
    19295179
    [PubMed - indexed for MEDLINE]
    14.

    Phenotypic variability in giant axonal neuropathy.

    Tazir M, Nouioua S, Magy L, Huehne K, Assami S, Urtizberea A, Grid D, Hamadouche T, Rautenstrauss B, Vallat JM.

    Neuromuscul Disord. 2009 Apr;19(4):270-4. doi: 10.1016/j.nmd.2009.01.011. Epub 2009 Feb 23.

    PMID:
    19231187
    [PubMed - indexed for MEDLINE]
    15.

    Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.

    Cleveland DW, Yamanaka K, Bomont P.

    Hum Mol Genet. 2009 Apr 15;18(8):1384-94. doi: 10.1093/hmg/ddp044. Epub 2009 Jan 24.

    PMID:
    19168853
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.

    Nalini A, Gayathri N, Yasha TC, Ravishankar S, Urtizberea A, Huehne K, Rautenstrauss B.

    Eur J Med Genet. 2008 Sep-Oct;51(5):426-35. doi: 10.1016/j.ejmg.2008.05.006. Epub 2008 Jun 17.

    PMID:
    18595793
    [PubMed - indexed for MEDLINE]
    17.

    3T MR with diffusion tensor imaging and single-voxel spectroscopy in giant axonal neuropathy.

    Brenner C, Speck-Martins CE, Farage L, Barker PB.

    J Magn Reson Imaging. 2008 Jul;28(1):236-41. doi: 10.1002/jmri.21425.

    PMID:
    18581347
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Genotype-phenotype analysis in patients with giant axonal neuropathy.

    Kuhlenbäumer G.

    Neuromuscul Disord. 2008 Mar;18(3):276. doi: 10.1016/j.nmd.2007.12.004. Epub 2008 Mar 14. No abstract available.

    PMID:
    18343115
    [PubMed - indexed for MEDLINE]
    19.

    Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

    Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G.

    Neuromuscul Disord. 2007 Aug;17(8):624-30. Epub 2007 Jun 22.

    PMID:
    17587580
    [PubMed - indexed for MEDLINE]
    20.

    New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.

    Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM.

    J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1267-70. Epub 2007 Jun 19.

    PMID:
    17578852
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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