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

被引:1
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
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
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页数:3
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共 10 条
[1]   Early Onset Parkinson's disease due to DJ1 mutations: An Indian study [J].
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
[2]   DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex [J].
Annesi, G ;
Savettieri, G ;
Pugliese, P ;
D'Amelio, M ;
Tarantino, P ;
Ragonese, P ;
La Bella, V ;
Piccoli, T ;
Civitelli, D ;
Annesi, F ;
Fierro, B ;
Piccoli, F ;
Arabia, G ;
Caracciolo, M ;
Candiano, ICC ;
Quattrone, A .
ANNALS OF NEUROLOGY, 2005, 58 (05) :803-807
[3]   DJ-1 (PARK7), a novel gene for autosomal recessive, early onset parkinsonism [J].
Bonifati, V ;
Rizzu, P ;
Squitieri, F ;
Krieger, E ;
Vanacore, N ;
van Swieten, JC ;
Brice, A ;
van Duijn, CM ;
Oostra, B ;
Meco, G ;
Heutink, P .
NEUROLOGICAL SCIENCES, 2003, 24 (03) :159-160
[4]   Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation [J].
Bras, Jose M. ;
Guerreiro, Rita J. ;
Teo, James T. H. ;
Darwent, Lee ;
Vaughan, Jenny ;
Molloy, Sophie ;
Hardy, John ;
Schneider, Susanne A. .
MOVEMENT DISORDERS CLINICAL PRACTICE, 2014, 1 (01) :45-49
[5]   Atypical, Early-Onset Dystonia-Parkinsonism with Oculogyric Crises and Anterior Horn Cell Disorder Due to a Novel DJ-1 Mutation [J].
Desai, Karan ;
Agrawal, Shruti ;
Walzade, Priyanka ;
Ravat, Sangeeta H. ;
Agarwal, Pankaj A. .
MOVEMENT DISORDERS CLINICAL PRACTICE, 2021, 8 :S16-S18
[6]   A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family [J].
Hanagasi, Hasmet A. ;
Giri, Anamika ;
Kartal, Ece ;
Guven, Gamze ;
Bilgic, Basar ;
Hauser, Ann-Kathrin ;
Emre, Murat ;
Heutink, Peter ;
Basak, Nazh ;
Gasser, Thomas ;
Simon-Sanchez, Javier ;
Lohmann, Ebba .
PARKINSONISM & RELATED DISORDERS, 2016, 29 :117-120
[7]   Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review [J].
Kasten, Meike ;
Hartmann, Corinna ;
Hampf, Jennie ;
Schaake, Susen ;
Westenberger, Ana ;
Vollstedt, Eva-Juliane ;
Balck, Alexander ;
Domingo, Aloysius ;
Vulinovic, Franca ;
Dulovic, Marija ;
Zorn, Ingo ;
Madoev, Harutyun ;
Zehnle, Hanna ;
Lembeck, Christina M. ;
Schawe, Leopold ;
Reginold, Jennifer ;
Huang, Jana ;
Koenig, Inke R. ;
Bertram, Lars ;
Marras, Connie ;
Lohmann, Katja ;
Lill, Christina M. ;
Klein, Christine .
MOVEMENT DISORDERS, 2018, 33 (05) :730-741
[8]   Cranial Dystonia as an Isolated Presentation of DJ-1 Disease: Case Report and Literature Review [J].
Rajapakshe, Ishani ;
Mulroy, Eoin ;
Magrinelli, Francesca ;
Makawita, Chulika ;
Bhatia, Kailash P. ;
Senanayake, Bimsara .
MOVEMENT DISORDERS CLINICAL PRACTICE, 2023, 10 (02) :313-315
[9]   Molecular and Physiological Determinants of Amyotrophic Lateral Sclerosis: What the DJ-1 Protein Teaches Us [J].
Sandrelli, Federica ;
Bisaglia, Marco .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (08)
[10]   Pathogenesis of DJ-1/PARK7-Mediated Parkinson's Disease [J].
Skou, Line Duborg ;
Johansen, Steffi Krudt ;
Okarmus, Justyna ;
Meyer, Morten .
CELLS, 2024, 13 (04)