Predicting hearing loss in facioscapulohumeral muscular dystrophy

被引：1
作者：
Darras, Basil T. [1 ]
Tawil, Rabi [2 ]
机构：
[1] Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA
[2] Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14627 USA
来源：
NEUROLOGY | 2013年 / 81卷 / 16期
关键词：
D4Z4;
D O I：
10.1212/WNL.0b013e3182a841f7
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：1370 / 1371
页数：2
相关论文
共 9 条
  • [1] Darras BT, 2012, UPTODATE
  • [2] Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD
    Krom, Yvonne D.
    Thijssen, Peter E.
    Young, Janet M.
    den Hamer, Bianca
    Balog, Judit
    Yao, Zizhen
    Maves, Lisa
    Snider, Lauren
    Knopp, Paul
    Zammit, Peter S.
    Rijkers, Tonnie
    van Engelen, Baziel G. M.
    Padberg, George W.
    Frants, Rune R.
    Tawil, Rabi
    Tapscott, Stephen J.
    van der Maarel, Silvere M.
    [J]. PLOS GENETICS, 2013, 9 (04):
  • [3] Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
    Lemmers, Richard J. L. F.
    Tawil, Rabi
    Petek, Lisa M.
    Balog, Judit
    Block, Gregory J.
    Santen, Gijs W. E.
    Amell, Amanda M.
    van der Vliet, Patrick J.
    Almomani, Rowida
    Straasheijm, Kirsten R.
    Krom, Yvonne D.
    Klooster, Rinse
    Sun, Yu
    den Dunnen, Johan T.
    Helmer, Quinta
    Donlin-Smith, Colleen M.
    Padberg, George W.
    van Engelen, Baziel G. M.
    de Greef, Jessica C.
    Aartsma-Rus, Annemieke M.
    Frants, Rune R.
    de Visser, Marianne
    Desnuelle, Claude
    Sacconi, Sabrina
    Filippova, Galina N.
    Bakker, Bert
    Bamshad, Michael J.
    Tapscott, Stephen J.
    Miller, Daniel G.
    van der Maarel, Silvere M.
    [J]. NATURE GENETICS, 2012, 44 (12) : 1370 - 1374
  • [4] Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy
    Lutz, Katie L.
    Holte, Lenore
    Kliethermes, Stephanie A.
    Stephan, Carrie
    Mathews, Katherine D.
    [J]. NEUROLOGY, 2013, 81 (16) : 1374 - 1377
  • [5] Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy
    Mitsuhashi, Hiroaki
    Mitsuhashi, Satomi
    Lynn-Jones, Taylor
    Kawahara, Genri
    Kunkel, Louis M.
    [J]. HUMAN MOLECULAR GENETICS, 2013, 22 (03) : 568 - 577
  • [6] Facioscapulohumeral muscular dystrophy
    Tawil, Rabi
    Van der Maarel, Silvere M.
    [J]. MUSCLE & NERVE, 2006, 34 (01) : 1 - 15
  • [7] Tawil Rabi, 2010, Neuromuscul Disord, V20, P471, DOI 10.1016/j.nmd.2010.04.007
  • [8] Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function
    Trevisan, Carlo P.
    Pastorello, Ebe
    Ermani, Mario
    Angelini, Corrado
    Tomelleri, Giuliano
    Tonin, Paola
    Mongini, Tiziana
    Palmucci, Laura
    Galluzzi, Giuliana
    Tupler, Rossella G.
    Marioni, Gino
    Rimini, Alessandro
    [J]. AUDIOLOGY AND NEURO-OTOLOGY, 2008, 13 (01) : 1 - 6
  • [9] Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
    van Overveld, PGM
    Lemmers, RJFL
    Sandkuijl, LA
    Enthoven, L
    Winokur, ST
    Bakels, F
    Padberg, GW
    van Ommen, GJB
    Frants, RR
    van der Maarel, SM
    [J]. NATURE GENETICS, 2003, 35 (04) : 315 - 317
1