SEARCH FOR GENETIC MODIFIERS OF CMT1A AND HNPP BY EVALUATING THE EXTREMES OF THE CLINICAL SPECTRUM

被引：0
|
作者：
van Paassen, B. W. [1 ,2 ]
van Ruissen, F. [1 ]
Verhamme, C. [3 ]
van Spaendonck-Zwarts, K. Y. [2 ]
de Visser, M. [3 ]
Baas, F. [1 ]
van der Kooi, A. J. [3 ]
机构：
[1] Univ Amsterdam, Acad Med Ctr, Dept Genome Anal, NL-1105 AZ Amsterdam, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands
[3] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands
来源：
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2013年 / 18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：120 / 120
页数：1
相关论文
共 50 条
  • [21] INHERITED PRIMARY PERIPHERAL NEUROPATHIES - MOLECULAR-GENETICS AND CLINICAL IMPLICATIONS OF CMT1A AND HNPP
    LUPSKI, JR
    CHANCE, PF
    GARCIA, CA
    JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1993, 270 (19): : 2326 - 2330
  • [22] GENETIC SURVEY OF A LARGE COHORT OF CMT PATIENTS FROM TURKEY REVEALED EQUAL FREQUENCIES OF CMT1A DUPLICATION AND HNPP DELETION
    Ozes, B.
    Sivaci, M.
    Akyuz, K.
    Durmus, H.
    Deymeer, F.
    Oflazoglu, P.
    Parman, Y.
    Battaloglu, E.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2015, 20 (02) : 205 - 205
  • [23] Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent
    Timmerman, V
    Rautenstrauss, B
    Reiter, LT
    Koeuth, T
    Lofgren, A
    Liehr, T
    Nelis, E
    Bathke, KD
    DeJonghe, P
    Grehl, H
    Martin, JJ
    Lupski, JR
    Van Broeckhoven, C
    JOURNAL OF MEDICAL GENETICS, 1997, 34 (01) : 43 - 49
  • [24] A complex peripheral neuropathy family harboring CMT1A duplication and HNPP deletion
    Kim, Sang-Beom
    Choi, Byung-Ok
    Sunwoo, Il-Nam
    NEUROMUSCULAR DISORDERS, 2006, 16 : S131 - S131
  • [25] Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR
    Choi, Byung-Ok
    Kim, Joonki
    Lee, Kyung Lyong
    Yu, Jin Seok
    Hwang, Jung Hee
    Chung, Ki Wha
    MOLECULES AND CELLS, 2007, 23 (01) : 39 - 48
  • [26] Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP
    Masahiko Yamamoto
    Takeshi Yasuda
    Kiyoshi Hayasaka
    A. Ohnishi
    Hiroo Yoshikawa
    Takehiko Yanagihara
    Tohru Ikegami
    Tatsunori Yamamoto
    Hirofumi Ohashi
    Tomoya Nishimura
    Terunori Mitsuma
    Hidenori Kiyosawa
    Phillip F. Chance
    G. Sobue
    Human Genetics, 1997, 99 : 151 - 154
  • [27] Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP
    Yamamoto, M
    Yasuda, T
    Hayasaka, K
    Ohnishi, A
    Yoshikawa, H
    Yanagihara, T
    Ikegami, T
    Yamamoto, T
    Ohashi, H
    Nishimura, T
    Mitsuma, T
    Kiyosawa, H
    Chance, PF
    Sobue, G
    HUMAN GENETICS, 1997, 99 (02) : 151 - 154
  • [28] Detection of CMT1A duplication and HNPP deletions with reduced dependence on dosage analysis
    Harvey, J
    Hackwell, S
    Stevens, C
    Bullman, H
    JOURNAL OF MEDICAL GENETICS, 1997, 34 : 1411 - 1411
  • [29] Cohort study on the peripheral neuropathy families with CMT1A duplication and HNPP deletion
    Yoon, B. R.
    Oh, E. J.
    Seo, Y. J.
    Choi, B. O.
    Chung, K. W.
    MOLECULAR BIOLOGY OF THE CELL, 2013, 24
  • [30] Use of microtellite analysis and quantitative real-time PCR in CMT1A/HNPP testing allows detection of CMT1A of atypical size
    Mikesova, E.
    Barankova, L.
    Sakmaryova, I.
    Posadka, J.
    Seeman, P.
    EUROPEAN JOURNAL OF NEUROLOGY, 2006, 13 : 151 - 151
12345