Two distal hereditary motor neuropathy families with mutation of HSPB8 or HSPB1

被引：0
|
作者：
Choi, B-O.
Jung, H-K.
Hyun, J. W.
Kim, S-H.
Kim, Y. J.
Park, J. H.
Chung, K. W.
机构：
[1] Ewha Womans Univ, Seoul, South Korea
[2] Kongju Natl Univ, Gongju, South Korea
来源：
JOURNAL OF NEUROLOGY | 2012年 / 259卷
关键词：
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：
引用
收藏
页码：S120 / S121
页数：2
相关论文
共 50 条
  • [1] PHENOTYPIC SPECTRUM AND INCIDENCE OF HSPB1, HSPB3 AND HSPB8 MUTATIONS IN PATIENTS WITH DISTAL HEREDITARY MOTOR NEUROPATHY
    Echaniz-Laguna, A.
    Petiot, P.
    Pereon, Y.
    Salachas, F.
    Delmont, E.
    Pouget, J.
    Morales, R.
    Goizet, C.
    Latour, P.
    Stojkovic, T.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2015, 20 (02) : 135 - 135
  • [2] Autosomal dominant distal hereditary motor neuropathy type II: a Korean family without sequence variation in HSPB1 and HSPB8
    Lee, Sang-Soo
    Moon, So-Young
    Kim, Ji-Seon
    Ki, Chang-Seok
    NEUROLOGY ASIA, 2012, 17 (03) : 235 - 237
  • [3] HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes
    Kwok, Alice S.
    Phadwal, Kanchan
    Turner, Bradley J.
    Oliver, Peter L.
    Raw, Annie
    Simon, Anna Katharina
    Talbot, Kevin
    Agashe, Vishwas R.
    JOURNAL OF NEUROCHEMISTRY, 2011, 119 (06) : 1155 - 1161
  • [4] Human HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila
    Kang, Kyong-hwa
    Han, Ji Eun
    Hong, Young Bin
    Nam, Soo Hyun
    Choi, Byung-Ok
    Koh, Hyongjong
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2020, 521 (01) : 220 - 226
  • [5] REPORT OF A NOVEL HSPB1 MUTATION IN A PATIENT WITH CLINICAL AND ELECTROPHYSIOLOGICAL EVIDENCE OF DISTAL HEREDITARY MOTOR NEUROPATHY
    Schirinzi, E.
    Lucchesi, C.
    Mostacciuolo, M. L.
    Boaretto, F.
    Benedetti, L.
    Ienco, Caldarazzo E.
    Bugelli, G.
    Del Sette, M.
    Siciliano, G.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2014, 19 : S30 - S31
  • [6] HOMOZYGOUS MUTATION IN HSPB1 CAUSING DISTAL VACUOLAR MYOPATHY AND MOTOR NEUROPATHY
    Bugiardini, Enrico
    Rossor, Alexander M.
    Lynch, David S.
    Swash, Michael
    Pittman, Alan M.
    Blake, Julian C.
    Hanna, Michael G.
    Houlden, Henry
    Holton, Janice L.
    Reilly, Mary M.
    Matthews, Emma
    NEUROLOGY-GENETICS, 2017, 3 (04)
  • [7] In vitro expression of small heat shock protein HSPB8 and HSPB1 mutations causing axonal neuropathy
    Irobi, J.
    Dierick, I.
    de Corte, V.
    Gettemans, J.
    Robberecht, W.
    Van Den Bosch, L.
    Timmermans, J. -P.
    De Jonghe, P.
    Timmerman, V.
    NEUROMUSCULAR DISORDERS, 2006, 16 (9-10) : 645 - 646
  • [8] Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
    Ghaoui, Roula
    Palmio, Johanna
    Brewer, Janice
    Lek, Monkol
    Needham, Merrilee
    Evila, Anni
    Hackman, Peter
    Jonson, Per-Harald
    Penttila, Sini
    Vihola, Anna
    Huovinen, Sanna
    Lindfors, Mikaela
    Davis, Ryan L.
    Waddell, Leigh
    Kaur, Simran
    Yiannikas, Con
    North, Kathryn
    Clarke, Nigel
    MacArthur, Daniel G.
    Sue, Carolyn M.
    Udd, Bjarne
    NEUROLOGY, 2016, 86 (04) : 391 - 398
  • [9] A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation
    Ikeda, Yoshihisa
    Abe, Akiko
    Ishida, Chiho
    Takahashi, Kazuya
    Hayasaka, Kiyoshi
    Yamada, Masahito
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 277 (1-2) : 9 - 12
  • [10] A Family with Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein HSPB1
    Maeda, Kengo
    Idehara, Ryo
    Hashiguchi, Akihiro
    Takashima, Hiroshi
    INTERNAL MEDICINE, 2014, 53 (15) : 1655 - 1658
12345