Retinitis pigmentosa in DJ1-- associated early-onset Parkinson's disease: A phenotypic expansion

被引：0
|
作者：
Mahale, Rohan [1 ]
Chadha, Deepak [1 ]
Padmanabha, Hansashree [1 ]
Nashi, Saraswati [1 ]
机构：
[1] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neurol, Bangalore 560029, India
来源：
PARKINSONISM & RELATED DISORDERS | 2024年 / 127卷
关键词：
MUTATIONS;
D O I：
10.1016/j.parkreldis.2024.107101
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
页数：3
相关论文
共 50 条
  • [41] Preserved Serotonergic Activity in Early-Onset Parkinson's Disease
    Park, Hee Kyung
    Lee, Jae-Jung
    Park, Young-Min
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2020, 47 (03) : 344 - 349
  • [42] Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa
    Ajmal, Muhammad
    Khan, Muhammad Imran
    Micheal, Shazia
    Ahmed, Waqas
    Shah, Ashfa
    Venselaar, Hanka
    Bokhari, Habib
    Azam, Aisha
    Waheed, Nadia Khalida
    Collin, Rob W. J.
    den Hollander, Anneke I.
    Qamar, Raheel
    Cremers, Frans P. M.
    MOLECULAR VISION, 2012, 18 (127-28): : 1226 - 1237
  • [43] DJ-1 -: The second gene for early onset Parkinson disease
    Bandmann, O
    NEUROLOGY, 2004, 62 (03) : 357 - 358
  • [44] Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa
    den Hollander, Anneke I.
    van Lith-Verhoeven, Janneke J. C.
    Arends, Maarten L.
    Strom, Tim M.
    Cremers, Frans P. M.
    Hoyng, Carel B.
    ARCHIVES OF OPHTHALMOLOGY, 2007, 125 (07) : 932 - 935
  • [45] Visual losses in early-onset and late-onset Parkinson's disease
    Feitosa-Santana, Claudia
    Costa, Marcelo Fernandes
    Ferraz, Henrique Ballalai
    Andrade, Luiz Augusto F.
    Moura, Ana Laura
    Amaro Jr, Edson
    Hamer, Russell D.
    Ventura, Dora Fix
    JOURNAL OF THE OPTICAL SOCIETY OF AMERICA A-OPTICS IMAGE SCIENCE AND VISION, 2020, 37 (05) : A285 - A293
  • [46] Differences between early-onset and late-onset Parkinson's disease
    Mesec, A
    GIORNALE DI NEUROPSICOFARMACOLOGIA, 1998, 20 (02): : 41 - 41
  • [47] Early-onset vs. Late-onset Parkinson's disease
    Slimene, H.
    Farhat, N.
    Sakka, S.
    Hdiji, O.
    Dammak, M.
    Mhiri, C.
    MOVEMENT DISORDERS, 2021, 36 : S269 - S270
  • [48] Inflammation of the retinal pigment epithelium drives early-onset photoreceptor degeneration in Mertk- associated retinitis pigmentosa
    Mercau, Maria E.
    Akalu, Yemsratch T.
    Mazzoni, Francesca
    Gyimesi, Gavin
    Alberto, Emily J.
    Kong, Yong
    Hafler, Brian P.
    Finnemann, Silvia C.
    Rothlin, Carla V.
    Ghosh, Sourav
    SCIENCE ADVANCES, 2023, 9 (03)
  • [49] GLA-associated early-onset Parkinson's disease: the mimicry between Fabry disease and parkinsonisms
    de Fabregues, O.
    Pascual-Rodriguez, A.
    De Lucca, M.
    Selles, M.
    Palau, F.
    Fernandez, G.
    Hoenicka, J.
    MOVEMENT DISORDERS, 2022, 37 : S563 - S563
  • [50] Early Onset Parkinson's disease due to DJ1 mutations: An Indian study
    Abbas, Masoom M.
    Govindappa, Shyla T.
    Sudhaman, Sumedha
    Thelma, B. K.
    Juyal, Ramesh C.
    Behari, Madhuri
    Muthane, Uday B.
    PARKINSONISM & RELATED DISORDERS, 2016, 32 : 20 - 24
12345