Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Dystonia and PLA2G6[original query] |
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Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology 2010 Oct 75 (15): 1356-61. Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori |
PLA2G6 variant in Parkinson's disease. Journal of human genetics 2011 May 56 (5): 401-3. Tomiyama Hiroyuki, Yoshino Hiroyo, Ogaki Kotaro, Li Lin, Yamashita Chikara, Li Yuanzhe, Funayama Manabu, Sasaki Ryogen, Kokubo Yasumasa, Kuzuhara Shigeki, Hattori Nobuta |
Association between PLA2G6 gene polymorphisms and Parkinson's disease in the Chinese Han population. Parkinsonism & related disorders 2012 Mar . Lv Z, Guo J, Sun Q, Li K, Yu R, Tian J, Yan X, Tang B |
Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease. Parkinsonism & related disorders 2012 Nov . Gui YX, Xu ZP, Liu HM, Zhao JJ, Hu XY |
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. PloS one 2016 11 (5): e0155605. Kapoor Saketh, Shah Mohd Hussain, Singh Nivedita, Rather Mohammad Iqbal, Bhat Vishwanath, Gopinath Sindhura, Bindu Parayil Sankaran, Taly Arun B, Sinha Sanjib, Nagappa Madhu, Bharath Rose Dawn, Mahadevan Anita, Narayanappa Gayathri, Chickabasaviah Yasha T, Kumar Ar |
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression. Parkinsonism & related disorders 2018 10 61 179-186. Darling Alejandra, Aguilera-Albesa Sergio, Tello Cristina Aisha, Serrano Mercedes, Tomás Miguel, Camino-León Rafael, Fernández-Ramos Joaquín, Jiménez-Escrig Adriano, Poó Pilar, O'Callaghan Mar, Ortez Carlos, Nascimento Andrés, Fernández Mesaque Ramón Candau, Madruga Marcos, Arrabal Luisa, Roldan Susana, Gómez-Martín Hilario, Garrido Cristina, Temudo Teresa, Jou-Muñoz Cristina, Muchart Jordi, Huisman Thierry A G M, Poretti Andrea, Lupo Vincenzo, Espinós Carmen, Pérez-Dueñas Bel |
Association of rare heterozygous PLA2G6 variants with the risk of Parkinson's disease. Neurobiology of aging 2020 Nov . Liu Hongli, Wang Yige, Pan Hongxu, Xu Kun, Jiang Li, Zhao Yuwen, Xu Qian, Sun Qiying, Tan Jieqiong, Yan Xinxiang, Li Jinchen, Tang Beisha, Guo Jife |
Serum metabolomic characterization of PLA2G6-associated dystonia-parkinsonism: A case-control biomarker study. Frontiers in neuroscience 2022 8 16 879548. Chen Chen, Lou Min-Min, Sun Yi-Min, Luo Fang, Liu Feng-Tao, Luo Su-Shan, Wang Wen-Yuan, Wang Ji |
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. Orphanet journal of rare diseases 2023 7 18 (1): 177. Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavaso |
Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia. Heliyon 2024 6 10 (11): e31885. Rui Wu, Wen-Tian Chen, Wei-Kang Dou, Hui-Min Zhou, Ming S |
Genetic architecture of a single cohort of 230 Indian Parkinson's Disease patients. Parkinsonism & related disorders 2024 10 129 107157. Sneha D Kamath, Prashant Phulpagar, Vikram V Holla, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar P |
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration. Orphanet journal of rare diseases 2024 10 19 (1): 388. Amina Kurtovic-Kozaric, Moriel Singer-Berk, Jordan Wood, Emily Evangelista, Leena Panwala, Amanda Hope, Stefanie M Heinrich, Samantha Baxter, Mark J Ki |
Genetic Landscape of Dystonia in Asian Indians. Movement disorders clinical practice 2025 1 . Arti Saini, Inder Singh, Mukesh Kumar, Divya Madathiparambil Radhakrishnan, Ayush Agarwal, Divyani Garg, Arunmozhimaran Elavarasi, Rahul Singh, Vivek Chouhan, Sandeep, Anu Gupta, Venugopalan Yamuna Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Ajay Garg, Neerja Gupta, Riyaz Ahmad Mir, Mohammed Faruq, Balachandran Krishnamma Binukumar, Achal Kumar Srivastava, Roopa Raj |
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