INHERITED PRIMARY PERIPHERAL NEUROPATHIES - MOLECULAR-GENETICS AND CLINICAL IMPLICATIONS OF CMT1A AND HNPP

被引:75
|
作者
LUPSKI, JR
CHANCE, PF
GARCIA, CA
机构
[1] BAYLOR COLL MED,DEPT PEDIAT,HOUSTON,TX 77030
[2] BAYLOR COLL MED,CTR HUMAN GENOME,HOUSTON,TX 77030
[3] TEXAS CHILDRENS HOSP,HOUSTON,TX 77030
[4] UNIV UTAH,MED CTR,DEPT PEDIAT,DIV MED GENET,SALT LAKE CITY,UT 84112
[5] LOUISIANA STATE UNIV,MED CTR,SCH MED,DEPT NEUROL,NEW ORLEANS,LA 70112
[6] LOUISIANA STATE UNIV,MED CTR,SCH MED,DEPT PATHOL,NEW ORLEANS,LA 70112
来源
关键词
D O I
10.1001/jama.270.19.2326
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:2326 / 2330
页数:5
相关论文
共 33 条
  • [21] Hereditary peripheral neuropathies: Clinical forms, genetics, and molecular mechanisms
    Warner, LE
    Garcia, CA
    Lupski, JR
    ANNUAL REVIEW OF MEDICINE, 1999, 50 : 263 - 275
  • [22] MOLECULAR-GENETICS OF MUCOPOLYSACCHARIDOSIS TYPE .1. DIAGNOSTIC, CLINICAL, AND BIOLOGICAL IMPLICATIONS
    SCOTT, HS
    BUNGE, S
    GAL, A
    CLARKE, LA
    MORRIS, CP
    HOPWOOD, JJ
    HUMAN MUTATION, 1995, 6 (04) : 288 - 302
  • [23] CMT1A-REPs based PCR strategies to identify duplications/deletions in Charcot-Marie-Tooth type 1A (CMT1A) and Hereditary Neuropathies with liability to Pressure Palsies (HNPP).
    Bernard, RB
    Navarro, A
    Pouget, J
    Desnuelle, C
    Philip, N
    Fontés, M
    Lévy, N
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A284 - A284
  • [24] CLINICAL IMPLICATIONS OF ADVANCES IN THE MOLECULAR-GENETICS OF COLORECTAL-CANCER
    LYNCH, HT
    LYNCH, JF
    TUMORI, 1995, 81 (03) : 19 - 29
  • [25] INHERITED EPIDERMOLYSIS-BULLOSA - CLINICAL-FEATURES, MOLECULAR-GENETICS, AND PATHOETIOLOGIC MECHANISMS
    UITTO, J
    CHRISTIANO, AM
    DERMATOLOGIC CLINICS, 1993, 11 (03) : 549 - 563
  • [26] THE FRAGILE-X SYNDROME - IMPLICATIONS OF MOLECULAR-GENETICS FOR THE CLINICAL SYNDROME
    ROUSSEAU, F
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 1994, 24 (01) : 1 - 10
  • [27] NEUROFIBROMATOSIS TYPE-1 - PATHOLOGY, CLINICAL-FEATURES AND MOLECULAR-GENETICS
    VONDEIMLING, A
    KRONE, W
    MENON, AG
    BRAIN PATHOLOGY, 1995, 5 (02) : 153 - 162
  • [28] SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights
    Ando, Masahiro
    Higuchi, Yujiro
    Yuan, Jun-Hui
    Yoshimura, Akiko
    Yano, Chikashi
    Hobara, Takahiro
    Kojima, Fumikazu
    Hiramatsu, Yu
    Nozuma, Satoshi
    Nakamura, Tomonori
    Sakiyama, Yusuke
    Hashiguchi, Akihiro
    Okamoto, Yuji
    Matsushige, Takeshi
    Mitsui, Jun
    Tsuji, Shoji
    Takashima, Hiroshi
    JOURNAL OF NEUROLOGY, 2025, 272 (03)
  • [29] THE 1ST DECADE OF MOLECULAR-GENETICS IN NEUROLOGY - CHANGING CLINICAL THOUGHT AND PRACTICE
    ROWLAND, LP
    ANNALS OF NEUROLOGY, 1992, 32 (02) : 207 - 214
  • [30] Association of Charcot-Marie-Tooth disease type 1A (CMT1A) and multiple sclerosis (MS): PMP22 is an exclusive candidate for peripheral neuropathies.
    Rautenstrauss, B
    Liehr, T
    May-Wehof, U
    Moller, P
    Sertic, J
    Sostarko, M
    Grehl, H
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A319 - A319