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Journal Abstract Search

928 related items for PubMed ID: 29080331

  • 1. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.
    Farhan SMK, Gendron TF, Petrucelli L, Hegele RA, Strong MJ.
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jan; 177(1):75-85. PubMed ID: 29080331
    [Abstract] [Full Text] [Related]

  • 2. The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.
    Ciura S, Sellier C, Campanari ML, Charlet-Berguerand N, Kabashi E.
    Autophagy; 2016 Aug 02; 12(8):1406-8. PubMed ID: 27245636
    [Abstract] [Full Text] [Related]

  • 3. Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
    Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E, French Research Network on FTD and FTD-ALS.
    Neurology; 2014 Sep 09; 83(11):990-5. PubMed ID: 25098532
    [Abstract] [Full Text] [Related]

  • 4. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.
    Giannoccaro MP, Bartoletti-Stella A, Piras S, Pession A, De Massis P, Oppi F, Stanzani-Maserati M, Pasini E, Baiardi S, Avoni P, Parchi P, Liguori R, Capellari S.
    J Neurol; 2017 Jul 09; 264(7):1426-1433. PubMed ID: 28620717
    [Abstract] [Full Text] [Related]

  • 5. C9orf72 hexanucleotide repeat expansions and Ataxin 2 intermediate length repeat expansions in Indian patients with amyotrophic lateral sclerosis.
    Narain P, Gomes J, Bhatia R, Singh I, Vivekanandan P.
    Neurobiol Aging; 2017 Aug 09; 56():211.e9-211.e14. PubMed ID: 28527524
    [Abstract] [Full Text] [Related]

  • 6. The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.
    Giannoccaro MP, Bartoletti-Stella A, Piras S, Casalena A, Oppi F, Ambrosetto G, Montagna P, Liguori R, Parchi P, Capellari S.
    J Alzheimers Dis; 2018 Aug 09; 62(2):687-697. PubMed ID: 29480190
    [Abstract] [Full Text] [Related]

  • 7. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.
    Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Trojsi F, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Riva N, Carrera P, Giannini F, Mandrioli J, Tanel R, Capasso M, Tremolizzo L, Battistini S, Murru MR, Origone P, Zollino M, Penco S, ITALSGEN consortium, SARDINIALS consortium, Mazzini L, D'Alfonso S, Restagno G, Brunetti M, Barberis M, Conforti FL.
    Neurobiol Aging; 2016 Mar 09; 39():218.e5-8. PubMed ID: 26733254
    [Abstract] [Full Text] [Related]

  • 8. Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort.
    Kartanou C, Karadima G, Koutsis G, Breza M, Papageorgiou SG, Paraskevas GP, Kapaki E, Panas M.
    Amyotroph Lateral Scler Frontotemporal Degener; 2018 Feb 09; 19(1-2):152-154. PubMed ID: 29166782
    [Abstract] [Full Text] [Related]

  • 9. Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.
    Gromicho M, Coutinho AM, Pronto-Laborinho AC, Raposeiro R, Tavares J, Antunes D, de Carvalho M.
    J Neurol; 2020 Dec 09; 267(12):3578-3592. PubMed ID: 32638105
    [Abstract] [Full Text] [Related]

  • 10. [Impact of C9orf72 on Japanese Patients with Amytrophic Lateral Sclerosis (ALS)/Frontotemporal Dementia (FTD)].
    Tomiyama H.
    Brain Nerve; 2019 Nov 09; 71(11):1190-1208. PubMed ID: 31722305
    [Abstract] [Full Text] [Related]

  • 11. Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype.
    Floeter MK, Bageac D, Danielian LE, Braun LE, Traynor BJ, Kwan JY.
    Neuroimage Clin; 2016 Nov 09; 12():1035-1043. PubMed ID: 27995069
    [Abstract] [Full Text] [Related]

  • 12. The frequency of the C9orf72 expansion in a Brazilian population.
    Cintra VP, Bonadia LC, Andrade HMT, de Albuquerque M, Eusébio MF, de Oliveira DS, Claudino R, Gonçalves MVM, Teixeira AL, de Godoy Rousseff Prado L, de Souza LC, Dourado MET, Oliveira ASB, Tumas V, França MC, Marques W.
    Neurobiol Aging; 2018 Jun 09; 66():179.e1-179.e4. PubMed ID: 29449030
    [Abstract] [Full Text] [Related]

  • 13. Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.
    Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L.
    Neurobiol Aging; 2014 Apr 09; 35(4):936.e19-22. PubMed ID: 24269022
    [Abstract] [Full Text] [Related]

  • 14. Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.
    Kartanou C, Kontogeorgiou Z, Rentzos M, Potagas C, Aristeidou S, Kapaki E, Paraskevas GP, Constantinides VC, Stefanis L, Papageorgiou SG, Houlden H, Panas M, Koutsis G, Karadima G.
    J Neurol Sci; 2022 Nov 15; 442():120450. PubMed ID: 36252286
    [Abstract] [Full Text] [Related]

  • 15. Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
    Mesaros M, Lenz S, Lim W, Brown J, Drury L, Roggenbuck J.
    Genes (Basel); 2021 Dec 28; 13(1):. PubMed ID: 35052416
    [Abstract] [Full Text] [Related]

  • 16. Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion.
    Babić Leko M, Župunski V, Kirincich J, Smilović D, Hortobágyi T, Hof PR, Šimić G.
    Behav Neurol; 2019 Dec 28; 2019():2909168. PubMed ID: 30774737
    [Abstract] [Full Text] [Related]

  • 17. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
    Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Chromosome 9-ALS/FTD Consortium, French research network on FTLD/FTLD/ALS, ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ.
    Lancet Neurol; 2012 Apr 28; 11(4):323-30. PubMed ID: 22406228
    [Abstract] [Full Text] [Related]

  • 18. Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis.
    Saxon JA, Thompson JC, Harris JM, Richardson AM, Langheinrich T, Rollinson S, Pickering-Brown S, Chaouch A, Ealing J, Hamdalla H, Young CA, Blackburn D, Majeed T, Gall C, Jones M, Snowden JS.
    J Neurol Neurosurg Psychiatry; 2020 Dec 28; 91(12):1304-1311. PubMed ID: 33055142
    [Abstract] [Full Text] [Related]

  • 19. C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis.
    Fredi M, Cavazzana I, Biasiotto G, Filosto M, Padovani A, Monti E, Tincani A, Franceschini F, Zanella I.
    Neuromolecular Med; 2019 Jun 28; 21(2):150-159. PubMed ID: 30859373
    [Abstract] [Full Text] [Related]

  • 20. Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.
    Barschke P, Oeckl P, Steinacker P, Al Shweiki MR, Weishaupt JH, Landwehrmeyer GB, Anderl-Straub S, Weydt P, Diehl-Schmid J, Danek A, Kornhuber J, Schroeter ML, Prudlo J, Jahn H, Fassbender K, Lauer M, van der Ende EL, van Swieten JC, Volk AE, Ludolph AC, Otto M, German FTLD consortium.
    J Neurol Neurosurg Psychiatry; 2020 May 28; 91(5):503-511. PubMed ID: 32132225
    [Abstract] [Full Text] [Related]

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