Inherited neuromuscular junction disorders: Genotype phenotype correlations

被引:0
|
作者
Vogt, Julie [1 ]
Morgan, N. V. [2 ]
Harrison, B. J. [2 ]
Rehal, P. [3 ]
Brueton, L. [1 ]
McKeown, C. [1 ]
Oley, C.
Beeson, D. [4 ]
MacDonald, F. [3 ]
Maher, E. R. [2 ]
机构
[1] Birmingham Womens Hosp, W Midlands Clin Genet Unit, Birmingham, W Midlands, England
[2] Univ Birmingham, Dept Med & Mol Genet, Birmingham B15 2TT, W Midlands, England
[3] Birmingham Womens Hosp, W Midlands Reg Genet Lab, Birmingham, W Midlands, England
[4] John Radcliffe Hosp, Wealtherall Inst Mol Med, Neurosci Grp, Oxford, England
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:S17 / S17
页数:1
相关论文
共 50 条
  • [31] Inherited neuromuscular disorders: Pathway to diagnosis
    Menezes, Manoj P.
    North, Kathryn N.
    JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2012, 48 (06) : 458 - 465
  • [32] Gene therapy for inherited neuromuscular disorders
    Muntoni, F.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1067 - 1067
  • [33] INHERITED NEUROMUSCULAR DISORDERS: NOT FOR THE FAINT OF HEART
    Fifer, Kenneth M.
    Weintraub, Jennifer P.
    JOURNAL OF GENERAL INTERNAL MEDICINE, 2017, 32 : S517 - S518
  • [34] Genetic therapies for inherited neuromuscular disorders
    Scoto, Mariacristina
    Finkel, Richard
    Mercuri, Eugenio
    Muntoni, Francesco
    LANCET CHILD & ADOLESCENT HEALTH, 2018, 2 (08): : 600 - 609
  • [35] DISORDERS OF THE NEUROMUSCULAR-JUNCTION
    DAVOUS, P
    REVUE DE MEDECINE, 1982, 23 (36-3): : 1931 - 1940
  • [36] Autoimmune disorders of the neuromuscular junction
    Lang, Bethan
    Vincent, Angela
    CURRENT OPINION IN PHARMACOLOGY, 2009, 9 (03) : 336 - 340
  • [37] Autoimmune disorders of the neuromuscular junction
    Vincent, Angela
    NEUROLOGY INDIA, 2008, 56 (03) : 305 - 313
  • [38] Therapies for disorders of the neuromuscular junction
    Pruitt, JN
    Swift, TR
    ARCHIVES OF NEUROLOGY, 2002, 59 (05) : 739 - 742
  • [39] Acquired Disorders of the Neuromuscular Junction
    O'Neill, Gilmore N.
    INTERNATIONAL ANESTHESIOLOGY CLINICS, 2006, 44 (02) : 107 - 121
  • [40] Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disorders
    Langhammer, Franziska
    Maroofian, Reza
    Badar, Rueda
    Gregor, Anne
    Rochman, Michelle
    Ratliff, Jeffrey B.
    Koopmans, Marije
    Herget, Theresia
    Hempel, Maja
    Kortuem, Fanny
    Heron, Delphine
    Mignot, Cyril
    Keren, Boris
    Brooks, Susan
    Botti, Christina
    Ben-Zeev, Bruria
    Argilli, Emanuela
    Sherr, Elliot H.
    Gowda, Vykuntaraju K.
    Srinivasan, Varunvenkat M.
    Bakhtiari, Somayeh
    Kruer, Michael C.
    Salih, Mustafa A.
    Kuechler, Alma
    Muller, Eric A.
    Blocker, Karli
    Kuismin, Outi
    Park, Kristen L.
    Kochhar, Aaina
    Brown, Kathleen
    Ramanathan, Subhadra
    Clark, Robin D.
    Elgizouli, Magdeldin
    Melikishvili, Gia
    Tabatadze, Nazhi
    Stark, Zornitza
    Mirzaa, Ghayda M.
    Ong, Jinfon
    Grasshoff, Ute
    Bevot, Andrea
    von Wintzingerode, Lydia
    Jamra, Rami A.
    Hennig, Yvonne
    Goldenberg, Paula
    Al Alam, Chadi
    Charif, Majida
    Boulouiz, Redouane
    Bellaoui, Mohammed
    Amrani, Rim
    Al Mutairi, Fuad
    GENETICS IN MEDICINE, 2023, 25 (08)