Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT)

被引:0
|
作者
Varese, A. [1 ]
Acquaviva, M. [1 ]
Geroldi, A. [1 ]
Di Maria, E. [1 ]
Mandich, P. [1 ]
Bellone, E. [1 ]
机构
[1] Univ Genoa, Dipartimento Neurosci Oftalmol Genet, Sez Genet Med, Genoa, Italy
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:207 / 208
页数:2
相关论文
共 50 条
  • [41] Pregnancy in Charcot-Marie-Tooth disease Data from the Italian CMT national registry
    Pisciotta, Chiara
    Calabrese, Daniela
    Santoro, Lucio
    Tramacere, Irene
    Manganelli, Fiore
    Fabrizi, Gian Maria
    Schenone, Angelo
    Cavallaro, Tiziana
    Grandis, Marina
    Previtali, Stefano C.
    Allegri, Isabella
    Padua, Luca
    Pazzaglia, Costanza
    Saveri, Paola
    Quattrone, Aldo
    Valentino, Paola
    Tozza, Stefano
    Gentile, Luca
    Russo, Massimo
    Mazzeo, Anna
    Trapasso, Maria Claudia
    Parazzini, Fabio
    Vita, Giuseppe
    Pareyson, Davide
    NEUROLOGY, 2020, 95 (24) : E3180 - E3189
  • [42] Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant Connexin 32 (GJB1)
    W. Matsuyama
    M. Nakagawa
    T. Moritoyo
    H. Takashima
    F. Umehara
    K. Hirata
    M. Suehara
    M. Osame
    Journal of Human Genetics, 2001, 46 : 307 - 313
  • [43] Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant Connexin 32 (GJB1)
    Matsuyama, W
    Nakagawa, M
    Moritoyo, T
    Takashima, H
    Umehara, F
    Hirata, K
    Suehara, M
    Osame, M
    JOURNAL OF HUMAN GENETICS, 2001, 46 (06) : 307 - 313
  • [44] Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease
    Fledrich, Robert
    Stassart, Ruth M.
    Sereda, Michael W.
    BRITISH MEDICAL BULLETIN, 2012, 102 (01) : 89 - 113
  • [45] Gait Patterns in Pediatric Charcot-Marie-Tooth Disease (CMT)
    Acsadi, Gyula
    Ounpuu, Sylvia
    NEUROLOGY, 2013, 80
  • [46] Gait Patterns in Pediatric Charcot-Marie-Tooth Disease (CMT)
    Acsadi, Gyula
    Ounpuu, Sylvia
    NEUROLOGY, 2013, 80
  • [47] Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients
    Karadima, G.
    Floroskufi, P.
    Koutsis, G.
    Vassilopoulos, D.
    Panas, M.
    CLINICAL GENETICS, 2011, 80 (05) : 497 - 499
  • [48] Mutation scanning the GJB1 gene with high-resolution melting analysis:: Implications for mutation scanning of genes for Charcot-Marie-Tooth disease
    Kennerson, L.
    Warburton, Trent
    Nelis, Eva
    Brewer, Megan
    Polly, Patsie
    De Jonghe, Peter
    Timmerman, Vincent
    Nicholson, Garth A.
    CLINICAL CHEMISTRY, 2007, 53 (02) : 349 - 352
  • [49] Deletion of the P2 promoter of the GJB1 gene confirms X-linked Charcot-Marie-Tooth disease in a large family
    Kulshrestha, R.
    Antoniadi, T.
    Burton-Jones, S.
    Rogers, M.
    Kiely, N.
    Willis, T.
    NEUROMUSCULAR DISORDERS, 2015, 25 : S283 - S284
  • [50] A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease
    Murphy, Sinead M.
    Polke, James
    Manji, Hadi
    Blake, Julian
    Reiniger, Lilla
    Sweeney, Mary
    Houlden, Henry
    Brandner, Sebastian
    Reilly, Mary M.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 (01) : 65 - 70