26th Meryon Lecture St Anne's College, Oxford, 5th July 2024 FSHD: The long road to DUX4

被引：0
作者：
Padberg, George W. [1 ]
机构：
[1] Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Nijmegen, Netherlands
来源：
NEUROMUSCULAR DISORDERS | 2024年 / 44卷
关键词：
Facioscapulohumeral dystrophy type 1; Facioscapulohumeral dystrophy type 2; DUX4; SMCHD1; DNMT3B; LRIF1; FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY; DNA REARRANGEMENTS; GENE; D4Z4; INHERITANCE; SEQUENCE; REPEAT; 4Q; MUTATIONS; ENCODES;
D O I：
10.1016/j.nmd.2024.08.007
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
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页数：5
相关论文
共 52 条
  • [1] BAKKER E, 1995, MUSCLE NERVE, pS39
  • [2] Becker P., 1953, Dystrophia Musculorum Progressiva, DOI DOI 10.1001/JAMA.1954.02940490080030
  • [3] INCIDENCE OF LOBULATED FIBERS IN FACIOSCAPULOHUMERAL TYPE OF MUSCULAR-DYSTROPHY AND LIMB-GIRDLE SYNDROME
    BETHLEM, J
    VANWIJNG.GK
    DEJONG, J
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1973, 18 (03) : 351 - 358
  • [4] The impact of European Neuromuscular Centre (ENMC) workshops on the neuromuscular field; 25 years on ...
    Breukel, Alexandra
    Willmann, Raffaella
    Padberg, George
    Sterrenburg, Ellen
    Meijer, Ingeborg
    [J]. NEUROMUSCULAR DISORDERS, 2019, 29 (04) : 330 - 340
  • [5] Brooke M, 1977, A clinician's view on neuromuscular disease
  • [6] Scapuloperoneal amyotrophy
    Davidenkow, S
    [J]. ARCHIVES OF NEUROLOGY AND PSYCHIATRY, 1939, 41 (04): : 694 - 701
  • [7] DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
    Dixit, Manjusha
    Ansseau, Eugenie
    Tassin, Alexandra
    Winokur, Sara
    Shi, Rongye
    Qian, Hong
    Sauvage, Sebastien
    Mattotti, Christel
    van Acker, Anne M.
    Leo, Oberdan
    Figiewicz, Denise
    Barro, Marietta
    Laoudj-Chenivesse, Dalila
    Belayew, Alexandra
    Coppee, Fredrique
    Chen, Yi-Wen
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (46) : 18157 - 18162
  • [8] Emery AEH., 1997, DIAGNOSTIC CRITERIA, V2nd
  • [9] Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
    Gabellini, D
    Green, MR
    Tupler, R
    [J]. CELL, 2002, 110 (03) : 339 - 348
  • [10] Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
    Gabriëls, J
    Beckers, MC
    Ding, H
    De Vriese, A
    Plaisance, S
    van der Maarel, SM
    Padberg, GW
    Frants, RR
    Hewitt, JE
    Collen, D
    Belayew, A
    [J]. GENE, 1999, 236 (01) : 25 - 32
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