Questioning the causality of HTT CAG-repeat expansions in FTD/ALS: Response to Dewan et al., short HTT CAG-repeat expansions cause Huntington's disease with frontotemporal dementia-like phenotype

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

Publikováno v: Neuron
Neuron, 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

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https://hal.sorbonne-universite.fr/hal-03500860/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

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

Transcriptional alterations and chromatin remodeling in polyglutamine diseases

Autor: Dominique Helmlinger, Laszlo Tora, Didier Devys

Publikováno v: Trends in Genetics
Trends in Genetics, Elsevier, 2006, 22 (10), pp.562-570. ⟨10.1016/j.tig.2006.07.010⟩
Trends in Genetics, Elsevier, 2006, 22 (10), pp.562-70. ⟨10.1016/j.tig.2006.07.010⟩

International audience; Transcriptional dysregulation is now thought to be a common feature of polyglutamine disorders, including the spinocerebellar ataxias (SCAs). However, the precise causes of transcriptional alterations and how they relate to th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e636da187190b41a521f724f925fc9e
https://doi.org/10.1016/j.tig.2006.07.010

Identification of rare hemoglobin variant (Hb Fairfax) causing dominant β-thalassemia phenotype in an Iranian family

Autor: Mohammad Esmaeil Akbari, Mina Izadyar, Mohammad Hamid

Publikováno v: Annals of Hematology
Annals of Hematology, Springer Verlag, 2011, 90 (3), pp.349-51. ⟨10.1007/s00277-010-1003-4⟩

Dear Editor, More than 900 hemoglobin (Hb) variants have been reported, and most variants are caused by mutations in the αor β-globin gene clusters [1]. Clinically, most of hemoglobin variants are asymptomatic, but some variants are unstable, with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6807f029fdd704f4bb8ff40f2496e895
https://hal-riip.archives-ouvertes.fr/pasteur-00750569/file/fulltext.pdf