TDP43 gene variants in patients with autosomal dominant degenerative myopathy

被引：0
|
作者：
Zibold, J. [1 ]
Wiessner, M. [1 ]
Topf, A. [2 ]
Petiot, P. [3 ]
Stucka, R. [1 ]
Dusl, M. [1 ]
Krause, S. [1 ]
Schoser, B. [1 ]
Walter, M. C. [1 ]
Straub, V. [2 ]
Urtizberea, A. [4 ]
Klopstock, T. [1 ]
Senderek, J. [1 ]
机构：
[1] Ludwig Maximilian Univ Munich, Friedrich Baur Inst, Dept Neurol, Munich, Germany
[2] Newcastle Univ, MRC Ctr Neuromuscular Dis, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England
[3] Hosp Civils Lyon, Hop Croix Rousse, Explorat Fonct Neurol, Lyon, France
[4] Hop Marin, APHP, Ctr Reference Neuromusc, Hendaye, France
来源：
EUROPEAN JOURNAL OF NEUROLOGY | 2019年 / 26卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
EPR3088
引用
收藏
页码：328 / 328
页数：1
相关论文
共 50 条
  • [1] TDP43 Proteinopathy in Patients with Huntington Disease
    Child, Daniel
    Yoda, Rebecca
    Jayadev, Suman
    Bird, Thomas
    Keene, C.
    Latimer, Caitlin
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2021, 80 (06): : 595 - 595
  • [2] TDP43 accumulates in intramuscular nerve bundles of ALS patients
    Kurashige, T.
    Morino, H.
    Murao, T.
    Izumi, Y.
    Sugiura, T.
    Kuraoka, K.
    Kawakami, H.
    Torii, T.
    Maruyama, H.
    NEUROMUSCULAR DISORDERS, 2022, 32 : S93 - S93
  • [3] Extra-motor manifestations of motor neurone disease and the role of TDP43 in ALS variants
    Highley, J. R.
    Smith, O.
    Brockington, A.
    Kirby, J.
    Wharton, S. B.
    Spillantini, M.
    Lowe, J. S.
    Layfield, R.
    Shaw, P. J.
    Ince, P. G.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2007, 33 (02) : 264 - 265
  • [4] Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP43 inclusions
    Van Deerlin, Vivianna M.
    Sleiman, Patrick M. A.
    Martinez-Lage, Maria
    Chen-Plotkin, Alice
    Wang, Li-San
    Graff-Radford, Neill R.
    Dickson, Dennis W.
    Rademakers, Rosa
    Boeve, Bradley F.
    Grossman, Murray
    Arnold, Steven E.
    Mann, David M. A.
    Pickering-Brown, Stuart M.
    Seelaar, Harro
    Heutink, Peter
    van Swieten, John C.
    Murrell, Jill R.
    Ghetti, Bernardino
    Spina, Salvatore
    Grafman, Jordan
    Hodges, John
    Spillantini, Maria Grazia
    Gilman, Sid
    Lieberman, Andrew P.
    Kaye, Jeffrey A.
    Woltjer, Randall L.
    Bigio, Eileen H.
    Mesulam, Marsel
    al-Sarraj, Safa
    Troakes, Claire
    Rosenberg, Roger N.
    White, Charles L., III
    Ferrer, Isidro
    Llado, Albert
    Neumann, Manuela
    Kretzschmar, Hans A.
    Hulette, Christine Marie
    Welsh-Bohmer, Kathleen A.
    Miller, Bruce L.
    Alzualde, Ainhoa
    Lopez de Munain, Adolfo
    McKee, Ann C.
    Gearing, Marla
    Levey, Allan I.
    Lah, James J.
    Hardy, John
    Rohrer, Jonathan D.
    Lashley, Tammaryn
    Mackenzie, Ian R. A.
    Feldman, Howard H.
    NATURE GENETICS, 2010, 42 (03) : 234 - U34
  • [5] Identification of the gene responsible for the autosomal dominant form of centronuclear myopathy
    Bitoun, M
    Maugenre, S
    Jeannet, PY
    Ferrer, X
    Laforêt, P
    Fardeau, M
    Eymard, B
    Romero, N
    Guicheney, P
    NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) : 716 - 716
  • [6] TDP43 autoregulation gives rise to dominant negative isoforms that are tightly controlled by transcriptional and post-translational mechanisms
    Dykstra, Megan M.
    Weskamp, Kaitlin
    Waksmacki, Jacob
    Tank, Elizabeth
    Glineburg, M. Rebecca
    Snyder, Allison
    Pinarbasi, Emile
    Bekier, Michael
    Li, Xingli
    Miller, Morgan R.
    Bai, Jen
    Shahzad, Shameena
    Nedumaran, Neha
    Wieland, Clare
    Stewart, Corey
    Willey, Sydney
    Grotewold, Nikolas
    Mcbride, Jonathon
    Moran, John J.
    Suryakumar, Aditya, V
    Lucas, Michael
    Tessier, Peter M.
    Ward, Michael
    Todd, Peter K.
    Barmada, Sami J.
    CELL REPORTS, 2025, 44 (01):
  • [7] Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa
    Sheng, Xunlun
    Zhang, Xinfang
    Wu, Weimin
    Zhuang, Wenjuan
    Meng, Ruihua
    Rong, Weining
    CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE, 2008, 43 (02): : 208 - 212
  • [8] Aggregation of TDP-43 in patients of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    Sugie, K.
    Noguchi, S.
    Malicdan, M. C. V.
    Ogawa, M.
    Nonaka, I.
    Ueno, S.
    Nishino, I.
    NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 651 - 652
  • [9] Autosomal dominant centronuclear myopathy caused by variants in the DNM2 gene - Results of an international, prospective natural history study
    Braun, F.
    Seferian, A.
    Behin, A.
    Fer, F.
    Peretti, M.
    Duchene, D.
    Schara-Schmidt, U.
    Annoussamy, M.
    Baets, J.
    Servais, L.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [10] ASSIGNMENT OF A GENE (NEMI) FOR AUTOSOMAL DOMINANT NEMALINE MYOPATHY TO CHROMOSOME-I
    LAING, NG
    MAJDA, BT
    AKKARI, PA
    LAYTON, MG
    MULLEY, JC
    PHILLIPS, H
    HAAN, EA
    WHITE, SJ
    BEGGS, AH
    KUNKEL, LM
    GROTH, DM
    BOUNDY, KL
    KNEEBONE, CS
    BLUMBERG, PC
    WILTON, SD
    SPEER, MC
    KAKULAS, BA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1992, 50 (03) : 576 - 583
12345