Works about C9ORF72 gene

Results: 42
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    C9ORF72 hexanucleotide repeat expansion as a rare cause of bipolar disorder.

    Published in:
    Bipolar Disorders, 2014, v. 16, n. 4, p. 448, doi. 10.1111/bdi.12169
    By:
    • Galimberti, Daniela;
    • Reif, Andreas;
    • Dell'Osso, Bernardo;
    • Palazzo, Carlotta;
    • Villa, Chiara;
    • Fenoglio, Chiara;
    • Kittel‐Schneider, Sarah;
    • Leonhard, Christine;
    • Olmes, David G;
    • Serpente, Maria;
    • Paoli, Riccardo A;
    • Altamura, A Carlo;
    • Scarpini, Elio
    Publication type:
    Article
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    Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.

    Published in:
    Neuropathology & Applied Neurobiology, 2016, v. 42, n. 3, p. 242, doi. 10.1111/nan.12292
    By:
    • Davidson, Y.;
    • Robinson, A. C.;
    • Liu, X.;
    • Wu, D.;
    • Troakes, C.;
    • Rollinson, S.;
    • Masuda‐Suzukake, M.;
    • Suzuki, G.;
    • Nonaka, T.;
    • Shi, J.;
    • Tian, J.;
    • Hamdalla, H.;
    • Ealing, J.;
    • Richardson, A.;
    • Jones, M.;
    • Pickering‐Brown, S.;
    • Snowden, J. S.;
    • Hasegawa, M.;
    • Mann, D. M. A.
    Publication type:
    Article
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    Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene.

    Published in:
    Neuropathology & Applied Neurobiology, 2015, v. 41, n. 5, p. 601, doi. 10.1111/nan.12178
    By:
    • Baborie, Atik;
    • Griffiths, Timothy D.;
    • Jaros, Evelyn;
    • Perry, Robert;
    • McKeith, Ian G.;
    • Burn, David J.;
    • Masuda-Suzukake, Masami;
    • Hasegawa, Masato;
    • Rollinson, Sara;
    • Pickering-Brown, Stuart;
    • Robinson, Andrew C.;
    • Davidson, Yvonne S.;
    • Mann, David M. A.
    Publication type:
    Article
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    Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 3/4, p. 245, doi. 10.3109/21678421.2015.1111904
    By:
    • Floris, Gianluca;
    • Borghero, Giuseppe;
    • Di Stefano, Francesca;
    • Melis, Rosanna;
    • Puddu, Roberta;
    • Fadda, Laura;
    • Murru, Maria R.;
    • Corongiu, Daniela;
    • Cuccu, Stefania;
    • Tranquilli, Stefania;
    • Cannas, Antonino;
    • Marrosu, Maria G.;
    • Chiò, Adriano;
    • Marrosu, Francesco
    Publication type:
    Article
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    Analysis of the C9orf72 gene in spinal muscular atrophy patients.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 563, doi. 10.3109/21678421.2014.929148
    By:
    • Alías, Laura;
    • Bernal, Sara;
    • Barceló, Maria J.;
    • Martínez-Hernández, Rebeca;
    • Martínez, Elisabeth;
    • Baiget, Montserrat;
    • Tizzano, Eduardo F.
    Publication type:
    Article
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    Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 569, doi. 10.3109/21678421.2014.951941
    By:
    • Fawzi, Amani A.;
    • Simonett, Joseph M.;
    • Purta, Patryk;
    • Moss, Heather E.;
    • Lowry, Jessica L.;
    • Deng, Han-Xiang;
    • Siddique, Nailah;
    • Sufit, Robert;
    • Bigio, Eileen H.;
    • Volpe, Nicholas J.;
    • Siddique, Teepu
    Publication type:
    Article
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    THEME 7 GENETICS.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, p. 141, doi. 10.3109/21678421.2014.960183
    Publication type:
    Article
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    Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

    Published in:
    Journal of Neurology, 2017, v. 264, n. 7, p. 1426, doi. 10.1007/s00415-017-8540-x
    By:
    • Giannoccaro, Maria;
    • Bartoletti-Stella, Anna;
    • Piras, Silvia;
    • Pession, Annalisa;
    • De Massis, Patrizia;
    • Oppi, Federico;
    • Stanzani-Maserati, Michelangelo;
    • Pasini, Elena;
    • Baiardi, Simone;
    • Avoni, Patrizia;
    • Parchi, Piero;
    • Liguori, Rocco;
    • Capellari, Sabina
    Publication type:
    Article
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    Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration.

    Published in:
    Acta Neuropathologica, 2015, v. 130, n. 3, p. 363, doi. 10.1007/s00401-015-1445-9
    By:
    • Suh, EunRan;
    • Lee, Edward;
    • Neal, Donald;
    • Wood, Elisabeth;
    • Toledo, Jon;
    • Rennert, Lior;
    • Irwin, David;
    • McMillan, Corey;
    • Krock, Bryan;
    • Elman, Lauren;
    • McCluskey, Leo;
    • Grossman, Murray;
    • Xie, Sharon;
    • Trojanowski, John;
    • Deerlin, Vivianna
    Publication type:
    Article
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    Tracking CRISPR targeting.

    Published in:
    Journal of Cell Biology, 2016, v. 214, n. 5, p. 491, doi. 10.1083/jcb.2145if
    By:
    • Short, Ben
    Publication type:
    Article
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    Fibroblast bioenergetics to classify amyotrophic lateral sclerosis patients.

    Published in:
    Molecular Neurodegeneration, 2017, v. 12, p. 1, doi. 10.1186/s13024-017-0217-5
    By:
    • Konrad, Csaba;
    • Hibiki Kawamata;
    • Bredvik, Kirsten G.;
    • Arreguin, Andrea J.;
    • Cajamarca, Steven A.;
    • Hupf, Jonathan C.;
    • Ravits, John M.;
    • Miller, Timothy M.;
    • Maragakis, Nicholas J.;
    • Hales, Chadwick M.;
    • Glass, Jonathan D.;
    • Gross, Steven;
    • Hiroshi Mitsumoto;
    • Manfredi, Giovanni
    Publication type:
    Article
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    C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

    Published in:
    Stem Cells, 2016, v. 34, n. 8, p. 2063, doi. 10.1002/stem.2388
    By:
    • Dafinca, Ruxandra;
    • Scaber, Jakub;
    • Ababneh, Nida'a;
    • Lalic, Tatjana;
    • Weir, Gregory;
    • Christian, Helen;
    • Vowles, Jane;
    • Douglas, Andrew G.L.;
    • Fletcher-Jones, Alexandra;
    • Browne, Cathy;
    • Nakanishi, Mahito;
    • Turner, Martin R.;
    • Wade-Martins, Richard;
    • Cowley, Sally A.;
    • Talbot, Kevin
    Publication type:
    Article
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    The role of the FTD-ALS associated C9orf72 expansion in suicide victims.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 7/8/2016, p. 589, doi. 10.1080/21678421.2016.1203337
    By:
    • Solje, Eino;
    • Riipinen, Pirkko;
    • Helisalmi, Seppo;
    • Särkioja, Terttu;
    • Laitinen, Marjo;
    • Hiltunen, Mikko;
    • Hakko, Helinä;
    • Remes, Anne M.
    Publication type:
    Article
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