Questioning the causality of HTT CAG-repeat expansions in FTD/ALS

Autor: Thomas, Quentin, Coarelli, Giulia, Heinzmann, Anna, Le Ber, Isabelle, Del Mar Amador, Maria, Durr, Alexandra

Publikováno v: Neuron
Neuron, Elsevier, 2021, 109 (12), pp.1945-1946. ⟨10.1016/j.neuron.2021.04.010⟩

International audience; Questioning the causality of HTT CAG-repeat expansions in FTD/ALS You can't judge a frontal dementia by its cover Response to Dewan et al., short HTT CAG-repeat expansions cause Huntington's disease with frontotemporal dementi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7a30cadbe590ecb47f37cbf96e34b703
https://hal.sorbonne-universite.fr/hal-03500860/document

Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms

Autor: HUIN, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩

International audience; Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::03f48b939ec6322f8c0e08f5d5a546c1
https://www.hal.inserm.fr/inserm-03014481v2/document

Oligogenicity, C9orf72 expansion, and variant severity in ALS

Autor: Patrick A. Dion, William Camu, Claire S. Leblond, Guy A. Rouleau, Nicolas Dupré, Alexandre Dionne-Laporte, Dan Spiegelman, Sandra B. Laurent, Jay P. Ross

Publikováno v: neurogenetics
neurogenetics, 2020, 21 (3), pp.227-242. ⟨10.1007/s10048-020-00612-7⟩

International audience; "Oligogenic inheritance" is used to describe cases where more than one rare pathogenic variant is observed in the same individual. While multiple variants can alter disease presentation, the necessity of multiple variants to i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718283b11f85b322bab4041e3dc3c512
https://hal.umontpellier.fr/hal-03564841

Longitudinal transcriptomic analysis of altered pathways in a CHMP2Bintron5-based model of ALS-FTD

Autor: Frédérique René, Florian Parisot, Alexandre Henriques, Robin Waegaert, Sylvie Dirrig-Grosch, Jean-Philippe Loeffler, Céline Keime

Publikováno v: Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2020, 136, pp.104710. ⟨10.1016/j.nbd.2019.104710⟩
Neurobiology of Disease, Vol 136, Iss, Pp 104710-(2020)
Neurobiology of Disease, 2020, 136, pp.104710. ⟨10.1016/j.nbd.2019.104710⟩

International audience; Amyotrophic lateral sclerosis and frontotemporal dementia are two neurodegenerative diseases with currently no cure. These two diseases share a clinical continuum with overlapping genetic causes. Mutations in the CHMP2B gene a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58805eb5e5c6b1b004a2f95f2a230901
https://doi.org/10.1016/j.nbd.2019.104710

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Autor: Majounie, E1, 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, 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, Adamson, G, Bayer, Aj, Beck, J, Callister, Jb, Blake, Dj, Blumen, Sc, Collinge, J, Dunckley, T, Ealing, J, East, S, Elman, L, Gerhard, A, Guerreiro, Rj, Gwinn, K, Halliwell, N, Hamdalla, Hh, Hewitt, C, Ince, P, Jablonka, S, James, C, Kent, L, Knock, Jc, Lynch, T, Mahoney, C, Mann, D, Neal, J, Norris, D, O'Dowd, S, Richardson, A, Rossor, M, Rothstein, J, Scholz, Sw, Snowden, J, Stephan, Da, Toulson, G, Turner, Mr, Warren, Jd, Young, K, Weng, Yh, Kuo, Hc, Lai, Sc, Huang, Cl, Camuzat, A, Entraingues, L, Guillot-Noël, Verpillat, P, Blanc, F, Camu, W, Clerget-Darpoux, F, Corcia, P, Couratier, P, Didic, M, Dubois, B, Duyckaerts, C, Guedj, E, Golfier, V, Habert, Mo, Hannequin, D, Lacomblez, L, Meininger, V, Salachas, F, Levy, R, Michel, Bf, Pasquier, F, Puel, M, Thomas-Anterion, C, Sellal, F, Vercelletto, M, Moglia, C, Cammarosano, S, Canosa, A, Gallo, S, Brunetti, M, Ossola, I, Marinou, K, Papetti, L, Pisano, F, Pinter, Gl, Conte, A, Luigetti, M, Zollino, M, Lattante, S, Marangi, G, la Bella, V, Spataro, R, Colletti, T, Battistini, S, Ricci, C, Caponnetto, C, Mancardi, G, Mandich, P, Salvi, F, Bartolomei, I, Mandrioli, J, Sola, P, Lunetta, C, Penco, S, Monsurrò, Mr, Tedeschi, G, Conforti, Fl, Gambardella, A, Quattrone, A, Volanti, P, Floris, G, Cannas, A, Piras, V, Marrosu, F, Marrosu, Mg, Murru, Mr, Pugliatti, M, Parish, Ld, Sotgiu, A, Solinas, G, Ulgheri, L, Ticca, A, Simone, I, Logroscino, G.

Publikováno v: The Lancet Neurology; Vol 11
Majounie, E, Renton, A E, Mok, K, Dopper, E G P, Waite, A, Rollinson, S, Chio, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten, J C, Abramzon, Y, Johnson, J O, Sendtner, M, Pamphlett, R, Orrell, R W, Mead, S, Sidle, K C, Houlden, H, Rohrer, J D, Morrison, K E, Pall, H, Talbot, K, Ansorge, O, Hernandez, D G, Arepalli, S, Sabatelli, M, Mora, G, Corbo, M, Giannini, F, Calvo, A, Englund, E, Borghero, G, Foris, G L, Remes, A M, Laaksovirta, H, McCluskey, L, Trojanowski, J Q, Van Deerlin, V M, Schellenberg, G D, Nalls, M A, Drory, V E, Lu, C S, Yeh, T H, Ishiura, H, Takahashi, Y, Tsuji, S, Le Ber, I, Brice, A, Drepper, C, Williams, N, Kirby, J, Shaw, P, Hardy, J, Tienari, P J, Heutink, P, Morris, H R, Pickering-Brown, S & Traynor, B J 2012, ' Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study ', Lancet Neurology, vol. 11, no. 4, pp. 323-330 . https://doi.org/10.1016/S1474-4422(12)70043-1
Lancet Neurology, 11(4), 323-330. Lancet Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2012, 11 (4), pp.323-30. ⟨10.1016/S1474-4422(12)70043-1⟩
Nature Communications, 2012, 11 (4), pp.323-30. ⟨10.1016/S1474-4422(12)70043-1⟩
Lancet Neurology; 11(4), pp 323-330 (2012)

International audience; BACKGROUND: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal deme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8784206eb3366edf49dc1cda0e6ce09f