Letter to the editors: comment on "Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families"

被引:1
|
作者
Shekarabi, Masoud [1 ]
Dion, Patrick A. [1 ,2 ]
Rouleau, Guy A. [1 ,3 ,4 ]
机构
[1] Univ Montreal, CENUM, CRCHUM, Montreal, PQ H2L 4MI, Canada
[2] Univ Montreal, Dept Pathol & Cellular Biol, Montreal, PQ H2L 4MI, Canada
[3] Univ Montreal, Dept Paediat & Biochem, CHU Sainte Justine Res Ctr, Montreal, PQ H2L 4MI, Canada
[4] Univ Montreal, Dept Med, Montreal, PQ H2L 4MI, Canada
关键词
ISOFORM;
D O I
10.1007/s00415-011-6206-7
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:565 / 566
页数:2
相关论文
共 50 条
  • [41] Mutation analysis of the SPTLC1 gene associated with Hereditary Sensory Neuropathy type 1 (HSN1) - a novel variant suggests an incomplete founder effect in the UK.
    Williams, M
    Gable, MM
    Greenslade, MM
    Cockerell, OC
    Lunt, PW
    Newbury-Ecob, R
    Reilly, M
    Tyfield, LA
    JOURNAL OF MEDICAL GENETICS, 2004, 41 : S78 - S78
  • [42] Hereditary Sensory Autonomic Neuropathy Type-1C (HSAN1c) by a Novel Mutation of Asn177Asp in SPTELCS2 Gene
    Anderson, Taylor
    Krajewski, Karen
    Li, Jun
    NEUROLOGY, 2019, 92 (15)
  • [43] A novel mutation in the NEFL gene in severe autosomal-dominant hereditary motor and sensory neuropathy (CMT 2E)
    Löscher, W
    Miltenberger, G
    Wanschitz, J
    Janecke, AR
    Auer-Grumbach, M
    Windpassinger, C
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2005, 10 : 54 - 55
  • [44] Sensory ataxic neuropathy due to a novel C10Orf2 (Twinkle) gene mutation with germline mosaicism
    Hudson, G
    Schaefer, A
    Taylor, R
    Deschauer, M
    Turnbull, D
    Chinnery, P
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1657 : 62 - 63
  • [45] Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE
    Yuan, Junhui
    Higuchi, Yujiro
    Nagado, Tatsui
    Nozuma, Satoshi
    Nakamura, Tomonori
    Matsuura, Eiji
    Hashiguchi, Akihiro
    Sakiyama, Yusuke
    Yoshimura, Akiko
    Takashima, Hiroshi
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2013, 18 (01) : 89 - 93
  • [46] Novel mutation in the methyltransferase domain of DNMT1 in a hereditary sensory and autonomic neuropathy patient with hearing loss, cataract, and dementia
    Nishihara, Hideaki
    Yuan, Junhui
    Omoto, Masatoshi
    Ogasawara, Jun-ichi
    Koga, Michiaki
    Kawai, Motoharu
    Higuchi, Yujiro
    Hashiguchi, Akihiro
    Takashima, Hiroshi
    Kanda, Takashi
    NEUROLOGY AND CLINICAL NEUROSCIENCE, 2015, 3 (02): : 74 - 77
  • [47] Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E)
    Parissis, Dimitrios
    Christodoulou, Kyproula
    Kleopa, Kleopas A. A.
    NEUROLOGICAL SCIENCES, 2023, 44 (06) : 2199 - 2201
  • [48] Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E)
    Dimitrios Parissis
    Kyproula Christodoulou
    Kleopas A. Kleopa
    Neurological Sciences, 2023, 44 : 2199 - 2201
  • [49] A novel missense mutation confirms ATL3 las a gene for hereditary sensory neuropathy type 1
    Fischer, Dirk
    Schabhuettl, Maria
    Wieland, Thomas
    Windhager, Reinhard
    Strom, Tim M.
    Auer-Grumbach, Michaela
    BRAIN, 2014, 137
  • [50] Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV:: demonstration of a founder mutation in the Turkish population
    Tuysuz, Beyhan
    Bayrakli, Fatih
    DiLuna, Michael L.
    Bilguvar, Kaya
    Bayri, Yasar
    Yalcinkaya, Cengiz
    Bursali, Aysegul
    Ozdamar, Elif
    Korkmaz, Baris
    Mason, Christopher E.
    Ozturk, Ali K.
    Lifton, Richard P.
    State, Matthew W.
    Gunel, Murat
    NEUROGENETICS, 2008, 9 (02) : 119 - 125