Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation

被引:0
|
作者
Makoto Hara
Masayuki Minami
Satoshi Kamei
Naoki Suzuki
Masaaki Kato
Masashi Aoki
机构
[1] Nihon University School of Medicine,Division of Neurology, Department of Medicine
[2] Tohoku University School of Medicine,Department of Neurology
来源
Journal of Neurology | 2012年 / 259卷
关键词
Amyotrophic Lateral Sclerosis; Cerebellar Ataxia; Motor Neuron Disease; Motor Neuron Disease; Autosomal Dominant Inheritance;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:2237 / 2239
页数:2
相关论文
共 50 条
  • [1] Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation
    Hara, Makoto
    Minami, Masayuki
    Kamei, Satoshi
    Suzuki, Naoki
    Kato, Masaaki
    Aoki, Masashi
    JOURNAL OF NEUROLOGY, 2012, 259 (10) : 2237 - 2239
  • [2] Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation
    Di Fonzo, Alessi
    Ronchi, Dario
    Gallia, Francesca
    Cribiu, Fulvia Milena
    Trezzi, Ilaria
    Vetro, Annalisa
    Della Mina, Erika
    Limongelli, Ivan
    Bellazzi, Riccardo
    Ricca, Ivana
    Micieli, Giuseppe
    Fassone, Elisa
    Rizzuti, Mafalda
    Bordoni, Andreina
    Fortunato, Francesco
    Salani, Sabrina
    Mora, Gabriele
    Corti, Stefania
    Ceroni, Mauro
    Bosari, Silvano
    Zuffardi, Orsetta
    Bresolin, Nereo
    Nobile-Orazio, Eduardo
    Comi, Giacomo Pietro
    NEUROLOGY, 2014, 82 (22) : 1990 - 1998
  • [3] Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene
    Nakamura, Akinori
    Kuru, Satoshi
    Hineno, Akiyo
    Kobayashi, Chinatsu
    Kinoshita, Tomomi
    Miyazaki, Daigo
    Ikeda, Shu-ichi
    NEUROBIOLOGY OF AGING, 2014, 35 (10) : 2420.e7 - 2420.e12
  • [4] Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
    Brahe, C
    Clermont, O
    Zappata, S
    Tiziano, F
    Melki, J
    Neri, G
    HUMAN MOLECULAR GENETICS, 1996, 5 (12) : 1971 - 1976
  • [5] FUS pathology in patients with motor neuron disease
    Fujita, Y.
    Fujita, S.
    Takatama, M.
    Aizawa, H.
    Mihara, B.
    Watanabe, M.
    Ikeda, M.
    Okamoto, K.
    BRAIN PATHOLOGY, 2010, 20 : 31 - 31
  • [6] Motor Neuron Disease Caused by Novel Sandhoff Disease Mutations
    Pierson, Tyler Mark
    Zeng, Bai Jin
    Torres, Paola
    Pastores, Gregory M.
    Finkel, Richard S.
    Mahuran, Don
    Tennekoon, Gihan I.
    Kolodny, Edwin H.
    ANNALS OF NEUROLOGY, 2009, 66 : S56 - S56
  • [7] A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease
    Ahn, Suk-Won
    Kim, Su-Hyun
    Hong, Yoon-Ho
    Lee, Kwang-Woo
    Sung, Jung-Joon
    NEUROLOGY INDIA, 2010, 58 (06) : 137 - 138
  • [8] LOWER MOTOR NEURON DISEASE
    KNAPP, ME
    POSTGRADUATE MEDICINE, 1969, 46 (04) : 203 - &
  • [9] Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report
    Enrica Filippelli
    Paola Valentino
    Grazia Annesi
    Rita Nisticò
    Aldo Quattrone
    Neurological Sciences, 2017, 38 : 1885 - 1887
  • [10] Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report
    Filippelli, Enrica
    Valentino, Paola
    Annesi, Grazia
    Nistico, Rita
    Quattrone, Aldo
    NEUROLOGICAL SCIENCES, 2017, 38 (10) : 1885 - 1887