Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene

被引:0
|
作者
Cai Shuang
Lin Jie
Liu Yi-Qi
Lu Jia-Hong
Zhao Chong-Bo
机构
[1] DepartmentofNeurology,HuashanHospital,FudanUniversity,Shanghai,China
关键词
D O I
暂无
中图分类号
R741 [神经病学];
学科分类号
摘要
<正>
引用
收藏
相关论文
共 50 条
  • [31] Review of CSF and Peripheral Immune Responses Following Intrathecal Gene Transfer for Giant Axonal Neuropathy Intrathecal Gene Transfer for Giant Axonal Neuropathy
    Bharucha-Goebel, Diana
    Foley, A. Reghan
    Soldatos, Ariane
    Hu, Ying
    Hewitt, Matthew
    Del Hoyo, Roberto Calcedo
    Jacobson, Steven
    Nath, Avindra
    Bailey, Rachel M.
    Grieger, Josh
    Samulski, R. Jude
    Bollard, Catherine
    Gray, Steven J.
    Bonnemann, Carsten G.
    MOLECULAR THERAPY, 2017, 25 (05) : 240 - 241
  • [32] GIANT AXONAL NEUROPATHY (GAN) - REPORT OF A LATIN-AMERICAN CASE
    TARATUTO, AL
    SEVLEVER, G
    SACCOLITI, M
    CACERES, L
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1988, 47 (03): : 315 - 315
  • [33] A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene
    Yamakage, N
    Ikejiri, M
    Okumura, K
    Takagi, A
    Murate, T
    Matushita, T
    Naoe, T
    Yamamoto, K
    Takamatsu, J
    Yamazaki, T
    Hamaguchi, M
    Kojima, A
    HAEMOPHILIA, 2006, 12 (02) : 172 - 178
  • [34] Severe neonatal insulin-resistance caused by compound heterozygous mutations in the insulin receptor gene
    Ruiz-Arana, Inge
    Martin-Frias, Maria
    Alegre, Maria
    Garin, Intza
    Perez de Nanclares, Guiomar
    Alonso, Milagros
    HORMONE RESEARCH, 2009, 72 : 422 - 422
  • [35] The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
    Liu, Qi
    Shen, Zongrui
    Pan, Hong
    Ma, Shunfei
    Xiong, Fu
    He, Fei
    FRONTIERS IN PEDIATRICS, 2023, 11
  • [36] New Intermediate Phenotype Between MED and DD Caused by Compound Heterozygous Mutations in the DTDST Gene
    Czarny-Ratajczak, Malwina
    Bieganski, Tadeusz
    Rogala, Piotr
    Glowacki, Maciej
    Trzeciak, Tomasz
    Kozlowski, Kazimierz
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (12) : 3036 - 3042
  • [37] A case of protein S deficiency caused by compound heterozygous mutations in PROS1 gene
    Odnoczko, E.
    Baran, B.
    Vertun-Baranowska, B.
    Oldenburg, J.
    Windyga, J.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 873 - 873
  • [38] Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations
    Xue, Y.
    Wang, L.
    Xia, D.
    Li, Q.
    Gao, S.
    Dong, M.
    Cai, T.
    Shi, S.
    He, L.
    Hu, K.
    Mao, T.
    Duan, X.
    JOURNAL OF DENTAL RESEARCH, 2015, 94 (05) : 674 - 681
  • [39] Primary microcephaly caused by novel compound heterozygous mutations in ASPM
    Okamoto N.
    Kohmoto T.
    Naruto T.
    Masuda K.
    Imoto I.
    Human Genome Variation, 5 (1)
  • [40] Progressive microcephaly is caused by compound-heterozygous mutations in QARS
    Waltl, S.
    CLINICAL GENETICS, 2014, 86 (06) : 508 - 509