Compound Heterozygous CACNA1H Mutations Associated with Severe Congenital Amyotrophy

被引:0
|
作者
McMillan, H.
Carter, M.
Tomin, A.
Weiss, N.
机构
关键词
Neuromuscular Disorders; Rare Diseases; Neonatal Neurology;
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
195
引用
收藏
页码:S132 / S132
页数:1
相关论文
共 50 条
  • [41] Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population
    Lv, Nan
    Qu, Jian
    Long, Hongyu
    Zhou, Luo
    Cao, Yuze
    Long, Lili
    Liu, Zhaoqian
    Xiao, Bo
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2015, 30 : 64 - 69
  • [42] Rare CACNA1A mutations leading to congenital ataxia
    Mercè Izquierdo-Serra
    José M. Fernández-Fernández
    Mercedes Serrano
    Pflügers Archiv - European Journal of Physiology, 2020, 472 : 791 - 809
  • [43] Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C
    Sundin, Mikael
    Marits, Per
    Ramme, Kim
    Kolios, Antonios G. A.
    Nilsson, Jakob
    CLINICAL IMMUNOLOGY, 2019, 200 : 16 - 18
  • [44] CACNA1H基因变异与神经系统疾病
    刘晓睿
    蒋莉
    癫痫杂志, 2022, 8 (02) : 146 - 150
  • [45] Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
    Giardino, Giuliana
    Sharapova, Svetlana O.
    Ciznar, Peter
    Dhalla, Fatima
    Maragliano, Luca
    Devi, Akella Radha Rama
    Islamoglu, Candan
    Ikinciogullari, Aydan
    Haskologlu, Sule
    Dogu, Figen
    Hanna-Wakim, Rima
    Dbaibo, Ghassan
    Chou, Janet
    Cirillo, Emilia
    Borzacchiello, Carla
    Kreins, Alexandra Y.
    Worth, Austen
    Rota, Ioanna A.
    Marques, Jose G.
    Sayitoglu, Muge
    Firtina, Sinem
    Mahdi, Moaffaq
    Geha, Raif
    Neven, Benedicte
    Sousa, Ana E.
    Benfenati, Fabio
    Hollander, Georg A.
    Davies, E. Graham
    Pignata, Claudio
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (04) : 756 - 768
  • [46] Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings
    Marion R. Roderick
    Lucy Jefferson
    William Renton
    Alexandre Belot
    Journal of Clinical Immunology, 2023, 43 : 703 - 705
  • [47] Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
    Giuliana Giardino
    Svetlana O. Sharapova
    Peter Ciznar
    Fatima Dhalla
    Luca Maragliano
    Akella Radha Rama Devi
    Candan Islamoglu
    Aydan Ikinciogullari
    Sule Haskologlu
    Figen Dogu
    Rima Hanna-Wakim
    Ghassan Dbaibo
    Janet Chou
    Emilia Cirillo
    Carla Borzacchiello
    Alexandra Y. Kreins
    Austen Worth
    Ioanna A. Rota
    José G. Marques
    Muge Sayitoglu
    Sinem Firtina
    Moaffaq Mahdi
    Raif Geha
    Bénédicte Neven
    Ana E. Sousa
    Fabio Benfenati
    Georg A. Hollander
    E. Graham Davies
    Claudio Pignata
    Journal of Clinical Immunology, 2021, 41 : 756 - 768
  • [48] Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings
    Roderick, Marion
    Jefferson, Lucy
    Renton, William
    Belot, Alexandre
    PRKCD Consortium
    JOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (04) : 703 - 705
  • [49] Identification of compound heterozygous FTO-mutations in a severe malformation syndrome
    Siebers-Renelt, U.
    Stratis, Y.
    Seggewiss, J.
    Ledig, S.
    Horvath, J.
    Wieacker, P.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1187 - 1188
  • [50] Inactivation of CACNA1H induces cell apoptosis by initiating endoplasmic reticulum stress in glioma
    Liu, Sheng
    Ba, Ying
    Li, Chenglong
    Xu, Guangming
    TRANSLATIONAL NEUROSCIENCE, 2023, 14 (01)