Human Genome Epidemiology Literature Finder
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Records 1 - 19 (of 19 Records) |
| Query Trace: Disease and SYNJ1[original query] |
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| Beta-amyloid toxicity modifier genes and the risk of Alzheimer's disease. American journal of neurodegenerative disease 2012 1 (2): 191-8. Rosenthal Samantha L, Wang Xingbin, Demirci F Yesim, Barmada Michael M, Ganguli Mary, Lopez Oscar L, Kamboh M Ily |
| Phospholipid dysregulation contributes to ApoE4-associated cognitive deficits in Alzheimer's disease pathogenesis. Proceedings of the National Academy of Sciences of the United States of America 2015 Sep 112 (38): 11965-70. Zhu Li, Zhong Minghao, Elder Gregory A, Sano Mary, Holtzman David M, Gandy Sam, Cardozo Christopher, Haroutunian Vahram, Robakis Nikolaos K, Cai Dongmi |
| Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population. Neurobiology of aging 2015 Oct 36 (10): 2905.e7-8. Chen Kai-Hsiang, Wu Ruey-Meei, Lin Hang-I, Tai Chun-Hwei, Lin Chin-Hsi |
| ApoE4-associated phospholipid dysregulation contributes to development of Tau hyper-phosphorylation after traumatic brain injury. Scientific reports 2017 9 7 (1): 11372. Cao Jiqing, Gaamouch Farida El, Meabon James S, Meeker Kole D, Zhu Li, Zhong Margaret B, Bendik John, Elder Gregory, Jing Ping, Xia Jiahong, Luo Wenjie, Cook David G, Cai Dongmi |
| Detergent Insoluble Proteins and Inclusion Body-Like Structures Immunoreactive for PRKDC/DNA-PK/DNA-PKcs, FTL, NNT, and AIFM1 in the Amygdala of Cognitively Impaired Elderly Persons. Journal of neuropathology and experimental neurology 2018 Jan 77 (1): 21-39. Gal Jozsef, Chen Jing, Katsumata Yuriko, Fardo David W, Wang Wang-Xia, Artiushin Sergey, Price Douglas, Anderson Sonya, Patel Ela, Zhu Haining, Nelson Peter |
| Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease. Cell reports 2018 6 23 (10): 2967-2975. Miranda Andre M, Herman Mathieu, Cheng Rong, Nahmani Eden, Barrett Geoffrey, Micevska Elizabeta, Fontaine Gaelle, Potier Marie-Claude, Head Elizabeth, Schmitt Frederick A, Lott Ira T, Jiménez-Velázquez Ivonne Z, Antonarakis Stylianos E, Di Paolo Gilbert, Lee Joseph H, Hussaini S Abid, Marquer Catheri |
| The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials. Frontiers in genetics 2019 11 10 1061. Illés Anett, Csabán Dóra, Grosz Zoltán, Balicza Péter, Gézsi András, Molnár Viktor, Bencsik Renáta, Gál Anikó, Klivényi Péter, Molnar Maria Jud |
| Novel and reported variants in Parkinson's disease genes confer high disease burden among Indians. Parkinsonism & related disorders 2020 7 78 46-52. Kumar Sumeet, Yadav Navneesh, Pandey Sanjay, Muthane Uday B, Govindappa Shyla T, Abbas Masoom M, Behari Madhuri, Thelma B |
| The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease. Acta neuropathologica communications 2020 6 8 (1): 79. Ando Kunie, Ndjim Marième, Turbant Sabrina, Fontaine Gaëlle, Pregoni Gustavo, Dauphinot Luce, Yilmaz Zehra, Suain Valérie, Mansour Salwa, Authelet Michèle, De Dekker Robert, Leroy Karelle, Delatour Benoît, , Duyckaerts Charles, Potier Marie-Claude, Brion Jean-Pier |
| When does postural instability appear in monogenic parkinsonisms? An individual-patient meta-analysis. Journal of neurology 2020 5 268 (9): 3203-3211. Marsili Luca, Vizcarra Joaquin A, Sturchio Andrea, Dwivedi Alok K, Keeling Elizabeth G, Patel Dhiren, Mishra Murli, Farooqi Ashar, Merola Aristide, Fasano Alfonso, Mata Ignacio F, Kauffman Marcelo A, Espay Alberto |
| First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
| Identification of Disease-Associated Variants by Targeted Gene Panel Resequencing in Parkinson's Disease. Frontiers in neurology 2020 10 11 576465. Daida Kensuke, Funayama Manabu, Li Yuanzhe, Yoshino Hiroyo, Hayashida Arisa, Ikeda Aya, Ogaki Kotaro, Nishioka Kenya, Hattori Nobuta |
| Multimodal analysis of gene expression from postmortem brains and blood identifies synaptic vesicle trafficking genes to be associated with Parkinson's disease. Briefings in bioinformatics 2020 10 22 (4): . Gao Xiaoya, Huang Zifeng, Feng Cailing, Guan Chaohao, Li Ruidong, Xie Haiting, Chen Jian, Li Mingchun, Que Rongfang, Deng Bin, Cao Peihua, Li Mengyan, Lu Jianjun, Huang Yihong, Li Minzi, Yang Weihong, Yang Xiaohua, Wen Chunyan, Liang Xiaomei, Yang Qin, Chao Yin-Xia, Chan Ling-Ling, Yenari Midori A, Jin Kunlin, Chaudhuri K Ray, Zhang Jing, Tan Eng-King, Wang Qi |
| Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study. Genes 2022 Jul 13 (8): . Vacchiano Veria, Bartoletti-Stella Anna, Rizzo Giovanni, Avoni Patrizia, Parchi Piero, Salvi Fabrizio, Liguori Rocco, Capellari Sabi |
| Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India. Advanced biology 2022 Jul e2101326. Kukkle Prashanth Lingappa, Geetha Thenral S, Chaudhary Ruchi, Sathirapongsasuti Jarupon F, Goyal Vinay, Kandadai Rukmini Mridula, Kumar Hrishikesh, Borgohain Rupam, Mukherjee Adreesh, Oliver Merina, Sunil Meeta, Mootor Mohammed Faizal Eeman, Kapil Shruti, Mandloi Nitin, Wadia Pettarusp M, Yadav Ravi, Desai Soaham, Kumar Niraj, Biswas Atanu, Pal Pramod Kumar, Muthane Uday B, Das Shymal Kumar, Sakthivel Murugan Sakthivel M, Peterson Andrew S, Stawiski Eric W, Seshagiri Somasekar, Gupta Ravi, Ramprasad Vedam L, Prai Parkinson Research Alliance Of Ind |
| Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia. Movement disorders : official journal of the Movement Disorder Society 2024 8 . Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad-Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng-King Tan, Shen-Yang L |
| Are rare heterozygous SYNJ1 variants associated with Parkinson's disease? medRxiv : the preprint server for health sciences 2024 6 . Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Eric Yu, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Lior Greenbaum, Sharon Hassin-Baer, Roy N Alcalay, Ziv Gan- |
| Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali. Frontiers in genetics 2024 12 15 1412442. Salia Bamba, Lala Sidibé, Seybou H Diallo, Lassana Cissé, Kékouta Dembélé, Abdoulaye Yalcouyé, Weizhen Ji, Mohamed Emile Dembélé, Salimata Diarra, Alassane Dit Baneye Maiga, Oumou Traoré, Salimata Diallo, Samuel Ephrata Mefoung, Amadou Touré, Adama Koné, Lauren Jeffries, Cheick O Guinto, Emily K Mis, Kenneth H Fischbeck, Mustafa K Khokha, Saquib A Lakhani, Guida Landou |
| Are rare heterozygous SYNJ1 variants associated with Parkinson's disease? NPJ Parkinson's disease 2024 10 10 (1): 201. Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Eric Yu, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Lior Greenbaum, Sharon Hassin-Baer, Roy N Alcalay, Ziv Gan- |
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