X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration

被引:6
|
作者
Domingo, Aloysius [1 ,2 ]
Schmidt, Thomas G. P. M. [1 ]
Barcelon, Ela [3 ]
Lukban, Marissa [4 ]
Westenberger, Ana [1 ]
Klein, Christine [1 ]
机构
[1] Med Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany
[2] Med Univ Lubeck, Grad Sch Comp Med & Life Sci, D-23538 Lubeck, Germany
[3] Univ Philippines Manila, Philippine Gen Hosp, Dept Neurosci, Manila, Philippines
[4] Univ Philippines Manila, Philippine Gen Hosp, Dept Pediat, Manila, Philippines
关键词
TYROSINE KINASE; BTK;
D O I
10.1007/s00415-014-7483-8
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:2225 / 2227
页数:3
相关论文
共 50 条
  • [1] X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration
    Aloysius Domingo
    Thomas G. P. M. Schmidt
    Ela Barcelon
    Marissa Lukban
    Ana Westenberger
    Christine Klein
    [J]. Journal of Neurology, 2014, 261 : 2225 - 2227
  • [2] Striatal neurodegeneration in the presymptomatic phase of X-linked Dystonia-Parkinsonism
    Hanssen, H.
    Heldmann, M.
    Dy, J.
    Tantianpact, J.
    Steinhardt, J.
    Sprenger, A.
    Domingo, A.
    Reyes, C.
    Rosales, R.
    Klein, C.
    Muente, T.
    Westenberger, A.
    Oropilla, J.
    Diesta, C.
    Brueggemann, N.
    [J]. MOVEMENT DISORDERS, 2020, 35 : S110 - S111
  • [3] A Network Imaging Biomarker of X-Linked Dystonia-Parkinsonism A Network Imaging Biomarker of X-Linked Dystonia-Parkinsonism
    Niethammer, M.
    Tang, C.
    Jamora, R.
    Vo, A.
    Nguyen, N.
    Ma, Y.
    Peng, S.
    Waugh, J.
    Eidelberg, D.
    [J]. MOVEMENT DISORDERS, 2023, 38 : S662 - S662
  • [4] NEUROPATHOLOGY OF LUBAG (X-LINKED DYSTONIA-PARKINSONISM)
    WATERS, CH
    FAUST, PL
    POWERS, J
    VINTERS, H
    MOSKOWITZ, C
    NYGAARD, T
    HUNT, AL
    FAHN, S
    [J]. MOVEMENT DISORDERS, 1993, 8 (03) : 387 - 390
  • [5] Phenomenology of "Lubag" or X-linked dystonia-parkinsonism
    Evidente, VGH
    Advincula, J
    Esteban, R
    Pasco, P
    Alfon, JA
    Natividad, FF
    Cuanang, J
    San Luis, A
    Gwinn-Hardy, K
    Hardy, J
    Hernandez, D
    Singleton, A
    [J]. MOVEMENT DISORDERS, 2002, 17 (06) : 1271 - 1277
  • [6] Intracortical excitability in X-linked dystonia-Parkinsonism
    Weissbach, A.
    Rosales, R.
    Zittel, S.
    Brandt, V.
    Brueggemann, N.
    Domingo, A.
    Jamora, R. D.
    Diesta, C.
    Rasche, D.
    Tronnier, V.
    Muente, T.
    Lee, C. Klein L.
    Baeumer, T.
    Muenchau, A.
    [J]. MOVEMENT DISORDERS, 2014, 29 : S203 - S203
  • [7] X-Linked Dystonia-Parkinsonism: recent advances
    Bragg, D. Cristopher
    Sharma, Nutan
    Ozelius, Laurie J.
    [J]. CURRENT OPINION IN NEUROLOGY, 2019, 32 (04) : 604 - 609
  • [8] New insights into the genetics of X-linked dystonia-parkinsonism
    Domingo, A.
    Westenberger, A.
    Rosales, R.
    Jamora, R. D.
    Pasco, P. M.
    Lohmann, K.
    Lee, L. V.
    Klein, C.
    [J]. MOVEMENT DISORDERS, 2013, 28 : S399 - S400
  • [9] Brain sonography features in x-linked dystonia-parkinsonism
    Walter, U.
    Rocco, A.
    Klein, C.
    Rosales, R.
    Go, C.
    Dressler, D.
    Lee, L. V.
    [J]. CEREBROVASCULAR DISEASES, 2015, 39 : 49 - 49
  • [10] A Network Imaging Biomarker of X-Linked Dystonia-Parkinsonism
    Niethammer, Martin
    Tang, Chris C. C.
    Jamora, Roland Dominic G.
    Vo, An
    Nguyen, Nha
    Ma, Yilong
    Peng, Shichun
    Waugh, Jeff L.
    Westenberger, Ana
    Eidelberg, David
    [J]. ANNALS OF NEUROLOGY, 2023, : 684 - 695