ATAXIA PLUS MYOCLONUS IN A 23-YEAR-OLD PATIENT DUE TO STUB1 MUTATIONS

被引:26
作者
Cordoba, Marta [1 ]
Rodriguez-Quiroga, Sergio [1 ]
Mabel Gatto, Emilia [2 ]
Alurralde, Agustin [3 ]
Andres Kauffman, Marcelo [1 ]
机构
[1] Consejo Nacl Invest Cient & Tecn, Hosp JM Ramos Mejia, RA-1033 Buenos Aires, DF, Argentina
[2] Inst Neurociencias Buenos Aires INEBA, Santa Cruz, Argentina
[3] Hosp Caleta Olivia, Santa Cruz, Argentina
关键词
DISORDERS;
D O I
10.1212/WNL.0000000000000600
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:287 / 288
页数:2
相关论文
共 8 条
  • [1] Rare-disease genetics in the era of next-generation sequencing: discovery to translation
    Boycott, Kym M.
    Vanstone, Megan R.
    Bulman, Dennis E.
    MacKenzie, Alex E.
    [J]. NATURE REVIEWS GENETICS, 2013, 14 (10) : 681 - 691
  • [2] The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics
    Hersheson, Joshua
    Haworth, Andrea
    Houlden, Henry
    [J]. HUMAN MUTATION, 2012, 33 (09) : 1324 - 1332
  • [3] Cross-functional E3 ligases Parkin and C-terminus Hsp70-interacting protein in neurodegenerative disorders
    Kumar, Pravir
    Pradhan, Kaveri
    Karunya, R.
    Ambasta, Rashmi K.
    Querfurth, Henry W.
    [J]. JOURNAL OF NEUROCHEMISTRY, 2012, 120 (03) : 350 - 370
  • [4] McDonough H, 2003, CELL STRESS CHAPERON, V8, P303, DOI 10.1379/1466-1268(2003)008<0303:CALBTC>2.0.CO
  • [5] 2
  • [6] Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP
    Shi, Chang-He
    Schisler, Jonathan C.
    Rubel, Carrie E.
    Tan, Song
    Song, Bo
    McDonough, Holly
    Xu, Lei
    Portbury, Andrea L.
    Mao, Cheng-Yuan
    True, Cadence
    Wang, Rui-Hao
    Wang, Qing-Zhi
    Sun, Shi-Lei
    Seminara, Stephanie B.
    Patterson, Cam
    Xu, Yu-Ming
    [J]. HUMAN MOLECULAR GENETICS, 2014, 23 (04) : 1013 - 1024
  • [7] ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
    Wang, Kai
    Li, Mingyao
    Hakonarson, Hakon
    [J]. NUCLEIC ACIDS RESEARCH, 2010, 38 (16) : e164
  • [8] Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
    Yang, Yaping
    Muzny, Donna M.
    Reid, Jeffrey G.
    Bainbridge, Matthew N.
    Willis, Alecia
    Ward, Patricia A.
    Braxton, Alicia
    Beuten, Joke
    Xia, Fan
    Niu, Zhiyv
    Hardison, Matthew
    Person, Richard
    Bekheirnia, Mir Reza
    Leduc, Magalie S.
    Kirby, Amelia
    Peter Pham
    Scull, Jennifer
    Wang, Min
    Ding, Yan
    Plon, Sharon E.
    Lupski, James R.
    Beaudet, Arthur L.
    Gibbs, Richard A.
    Eng, Christine M.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (16) : 1502 - 1511