The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases

被引:5
|
作者
Biasiotto, Giorgio [1 ,2 ]
Zanella, Isabella [1 ,2 ]
机构
[1] Univ Brescia, Dept Mol & Translat Med, Brescia, Italy
[2] ASST Spedali Civili Brescia, Diagnost Dept, Clin Chem Lab, Brescia, Italy
关键词
MULTIPLE-SCLEROSIS;
D O I
10.1016/j.msard.2018.10.004
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:42 / 43
页数:2
相关论文
共 50 条
  • [41] The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
    Aaron R. Haeusler
    Christopher J. Donnelly
    Jeffrey D. Rothstein
    Nature Reviews Neuroscience, 2016, 17 : 383 - 395
  • [42] The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
    Haeusler, Aaron R.
    Donnelly, Christopher J.
    Rothstein, Jeffrey D.
    NATURE REVIEWS NEUROSCIENCE, 2016, 17 (06) : 383 - U79
  • [43] C9orf72 Repeat Expansions as Genetic Modifiers for Depression in Spinocerebellar Ataxias
    Figueroa, Karla P.
    Gan, Shi-Rui
    Perlman, Susan
    Wilmot, George
    Gomez, Christopher M.
    Schmahmann, Jeremy
    Paulson, Henry
    Shakkottai, Vikram G.
    Ying, Sarah H.
    Zesiewicz, Theresa
    Bushara, Khalaf
    Geschwind, Michael
    Xia, Guangbin
    Subramony, S. H.
    Ashizawa, Tetsuo
    Pulst, Stefan M.
    Kuo, Sheng-Han
    MOVEMENT DISORDERS, 2018, 33 (03) : 497 - 498
  • [44] Movement disorders associated with expansions and intermediate repeats in the C9orf72 gene
    Estevez-Fraga, C.
    Magrinelli, F.
    Latorre, A.
    Tabrizi, S.
    Houlden, H.
    Bhatia, K.
    MOVEMENT DISORDERS, 2020, 35 : S90 - S90
  • [45] C9orf72 intermediate expansions of 24–30 repeats are associated with ALS
    Alfredo Iacoangeli
    Ahmad Al Khleifat
    Ashley R. Jones
    William Sproviero
    Aleksey Shatunov
    Sarah Opie-Martin
    Karen E. Morrison
    Pamela J. Shaw
    Christopher E. Shaw
    Isabella Fogh
    Richard J. Dobson
    Stephen J. Newhouse
    Ammar Al-Chalabi
    Acta Neuropathologica Communications, 7
  • [46] Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions
    Todd, Tiffany W.
    Petrucelli, Leonard
    JOURNAL OF NEUROCHEMISTRY, 2016, 138 : 145 - 162
  • [47] C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing
    Le Ber, Isabelle
    Camuzat, Agnes
    Guillot-Noel, Lena
    Hannequin, Didier
    Lacomblez, Lucette
    Golfier, Veronique
    Puel, Michele
    Martinaud, Olivier
    Deramecourt, Vincent
    Rivaud-Pechoux, Sophie
    Millecamps, Stephanie
    Vercelletto, Martine
    Couratier, Philippe
    Sellal, Francois
    Pasquier, Florence
    Salachas, Francois
    Thomas-Anterion, Catherine
    Didic, Mira
    Pariente, Jeremie
    Seilhean, Danielle
    Ruberg, Merle
    Wargon, Isabelle
    Blanc, Frederic
    Camu, William
    Michel, Bernard-Francis
    Berger, Eric
    Sauvee, Mathilde
    Thauvin-Robinet, Christel
    Mondon, Karl
    Tournier-Lasserve, Elisabeth
    Goizet, Cyril
    Fleury, Marie
    Viennet, Gabriel
    Verpillat, Patrice
    Meininger, Vincent
    Duyckaerts, Charles
    Dubois, Bruno
    Brice, Alexis
    JOURNAL OF ALZHEIMERS DISEASE, 2013, 34 (02) : 485 - 499
  • [48] C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder
    Daoud, Hussein
    Postuma, Ronald B.
    Bourassa, Cynthia V.
    Rochefort, Daniel
    Gauthier, Maude Turcotte
    Montplaisir, Jacques
    Gagnon, Jean-Francois
    Arnulf, Isabelle
    Dauvilliers, Yves
    Charley, Christelle Monaca
    Inoue, Yuichi
    Sasai, Taeko
    Hoegl, Birgit
    Desautels, Alex
    Frauscher, Birgit
    De Cock, Valerie Cochen
    Rouleau, Guy A.
    Dion, Patrick A.
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2014, 41 (06) : 759 - 762
  • [49] Large C9orf72 repeat expansions are not a common cause of Parkinson's disease
    Majounie, Elisa
    Abramzon, Yevgeniya
    Renton, Alan E.
    Keller, Margaux F.
    Traynor, Bryan J.
    Singleton, Andrew B.
    NEUROBIOLOGY OF AGING, 2012, 33 (10) : e1 - e2
  • [50] Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort
    T T Nielsen
    K Svenstrup
    M Duno
    J E Nielsen
    Spinal Cord, 2014, 52 : 77 - 79