Clinical spectrum of PINK1 mutations and evidence for a role of heterozygous mutations in a large family

被引：0
|
作者：
Klein, C. [1 ]
机构：
[1] Med Univ Lubeck, Dept Neurol, Lubeck, Germany
来源：
EUROPEAN JOURNAL OF NEUROLOGY | 2007年 / 14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：310 / 310
页数：1
相关论文
共 50 条
  • [1] Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease : Role of a single hit?
    Hedrich, Katja
    Hagenah, Johann
    Djarmati, Ana
    Hiller, Anja
    Lohnau, Thora
    Lasek, Kathrin
    Gruenewald, Anne
    Hilker, Ruediger
    Steinlechner, Susanne
    Boston, Heather
    Kock, Norman
    Schneider-Gold, Christiane
    Kress, Wolfram
    Siebner, Hartwig
    Binkofski, Ferdinand
    Lencer, Rebekka
    Muenchau, Alexander
    Klein, Christine
    ARCHIVES OF NEUROLOGY, 2006, 63 (06) : 833 - 838
  • [2] Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
    Hagenah, J. M.
    Becker, B.
    Brueggemann, N.
    Djarmati, A.
    Lohmann, K.
    Sprenger, A.
    Klein, C.
    Seidel, G.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2008, 79 (09): : 1071 - 1074
  • [3] Detection of increased echogenicity in the substantia nigra in a large family with homo -: and heterozygous PINK1 mutations
    Hagenah, J. M.
    Seidel, G.
    Brueggemann, N.
    Djarmati, A.
    Lohmann, K.
    Sprenger, A.
    Klein, C.
    MOVEMENT DISORDERS, 2007, 22 : S177 - S178
  • [4] Pink1 heterozygous mutations in familial Parkinson's disease
    Hayashida, A.
    Li, Y.
    Yoshino, H.
    Nakahara, T.
    Yoritaka, A.
    Nagara, Y.
    Sakiyama, Y.
    Kusaka, H.
    Takiyama, Y.
    Morimoto, N.
    Uchino, A.
    Fujimoto, T.
    Sekijima, Y.
    Tomimoto, H.
    Tsuruta, K.
    Hattori, Y.
    Kashihara, K.
    Funayama, M.
    Nishioka, K.
    Hattori, N.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 381 : 161 - +
  • [5] Heterozygous PINK1 mutations:: A susceptibility factor for Parkinson disease?
    Djarmati, Ana
    Hedrich, Katja
    Svetel, Marina
    Lohnau, Thora
    Schwinger, Eberhard
    Romac, Stanka
    Pramstaller, Peter P.
    Kostic, Vladimir
    Klein, Christine
    MOVEMENT DISORDERS, 2006, 21 (09) : 1526 - 1530
  • [6] A heterozygous effect for PINK1 mutations in Parkinson's disease?
    Abou-Sleiman, Patrick M.
    Muqit, Miratul M. K.
    McDonald, Neil Q.
    Yang, Yan Xiang
    Gandhi, Sonia
    Healy, Daniel G.
    Harvey, Kirsten
    Harvey, Robert J.
    Deas, Emma
    Hatia, Kailash
    Quinn, Niall
    Lees, Andrew
    Latchman, David S.
    Wood, Nicholas W.
    ANNALS OF NEUROLOGY, 2006, 60 (04) : 414 - 419
  • [7] Heterozygous PINK1 mutations are a significant risk factor in sporadic PD
    Abou-Sleiman, PM
    Muqit, MMK
    Gandhi, S
    Harvey, K
    Harvey, RJ
    Bhatia, K
    MOVEMENT DISORDERS, 2006, 21 : S52 - S52
  • [8] PINK1 mutations and parkinsonism
    Ishihara-Paul, L.
    Hulihan, M. M.
    Kachergus, J.
    Upmanyu, R.
    Warren, L.
    Amouri, R.
    Elango, R.
    Prinjha, R. K.
    Soto, A.
    Kefi, M.
    Zouari, M.
    Sassi, S. B.
    Yahmed, S. B.
    El Euch-Fayeche, G.
    Matthews, P. M.
    Middleton, L. T.
    Gibson, R. A.
    Hentati, F.
    Farrer, M. J.
    NEUROLOGY, 2008, 71 (12) : 896 - 902
  • [9] Heterozygous mutations in PINK1 kinase domain exert a gene dosage effect
    Angeles, D.
    Refai, F.
    Siddique, M.
    Yap, K.
    Ho, P.
    Fook-Chong, S.
    Zhao, Y.
    Tan, E. -K.
    PARKINSONISM & RELATED DISORDERS, 2009, 15 : S171 - S171
  • [10] Genetic mutations and functions of PINK1
    Kawajiri, Sumihiro
    Saiki, Shinji
    Sato, Shigeto
    Hattori, Nobutaka
    TRENDS IN PHARMACOLOGICAL SCIENCES, 2011, 32 (10) : 573 - 580
12345