Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 389 Records) |
Query Trace: GBA[original query] |
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Cholinergic innervation topography in GBA-associated de novo Parkinson's disease patients. Brain : a journal of neurology 2023 9 . Sofie Slingerland, Sygrid van der Zee, Giulia Carli, Anne C Slomp, Jeffrey M Boertien, Emile d'Angremont, Nicolaas I Bohnen, Roger L Albin, Teus van La |
Double Trouble: Association of Malignant Melanoma with Sporadic and Genetic Forms of Parkinson's Disease and Asymptomatic Carriers of Related Genes: A Brief Report. Medicina (Kaunas, Lithuania) 2023 8 59 (8): . Christos Koros, Athina-Maria Simitsi, Anastasia Bougea, Nikolaos Papagiannakis, Roubina Antonelou, Ioanna Pachi, Efthalia Angelopoulou, Andreas Prentakis, Athena Zachou, Chrysa Chrysovitsanou, Ion Beratis, Stella Fragkiadaki, Dionysia Kontaxopoulou, Efthymia Eftymiopoulou, Evangelia Stanitsa, Constantin Potagas, Sokratis G Papageorgiou, Efstratios Karavasilis, Georgios Velonakis, Vasilios Prassopoulos, Xenia Geronicola-Trapali, Leonidas Stefan |
Quantitative dopamine transporter imaging assessment in Parkinson's disease patients carrying GBA gene mutations compared with idiopathic PD patients: A case-control study. Brain and behavior 2023 6 e3060. Sara Grisanti, Alessandro Fraternali, Francesco Cavallieri, Valentina Fioravanti, Massimiliano Casali, Giulia Toschi, Laura Ferri, Rossella Sabadini, Marialuisa Zedde, Gaetano Salomone, Manuela Napoli, Rosario Pascarella, Valeria Ferrari, Maria Scarano, Giuseppe Biagini, Augusto Scaglioni, Elena Moro, Annibale Versari, Franco Valzan |
Osteonecrosis in Gaucher Disease in the era of multiple therapies: biomarker set for risk stratification from a tertiary referral center. eLife 2023 5 12 . Mohsen Basiri, Mohammad E Ghaffari, Jiapeng Ruan, Vagishwari Murugesan, Nathaniel Kleytman, Glenn Belinsky, Amir Akhavan, Andrew Lischuk, Lilu Guo, Katherine Klinger, Pramod K Mist |
Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk. Molecular genetics and metabolism 2023 5 139 (2): 107608. Orly Goldstein, Mali Gana-Weisz, Sandro Banfi, Vincenzo Nigro, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N Alcalay, Avi Orr-Urtreg |
The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China. NPJ Parkinson's disease 2023 5 9 (1): 76. Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wa |
Genetic variants of GBA and GLA in a Turkish cohort of Parkinson's disease: A preliminary report. Parkinsonism & related disorders 2023 4 110 105390. Yekedüz Merve Koç, Yilmaz Rezzak, Kayis Gorkem, Do?ulu Neslihan, Öncül Ümmühan, Abali Talha, Temizyurek Akar Diyar, Çelik Gökalp, Çöklü Hilal, Gemci Emine, Yalcin Ahmet, Ceylaner Serdar, Akbostanc? M Cenk, Emino?lu Fatma Tu |
Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers. Parkinsonism & related disorders 2023 4 111 105398. Shachar Shani, Orly Goldstein, Mali Gana-Weisz, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N Alcalay, Avi Orr-Urtreg |
[Analysis of GBA mutations in patients with Parkinson's disease in the Krasnoyarsk region]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2023 4 123 (4): 103-108. T N Subbotina, V G Abramov, A A Shaleva, S V Vereschagina, D V Pokhab |
The Influence of GBA and LRRK2 on Mood Disorders in Parkinson's Disease. Movement disorders clinical practice 2023 4 10 (4): 606-616. Jake DeBroff, Nurit Omer, Batsheva Cohen, Nir Giladi, Meir Kestenbaum, Julia C Shirvan, Jesse M Cedarbaum, Mali Gana-Weisz, Orly Goldstein, Avi Orr-Urtreger, Anat Mirelman, Avner Thal |
Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease. Brain and behavior 2023 3 e2950. Do Minh Duc, Tran Tai Ngoc, Luong An Bac, Le Linh Hoang Gia, Van Le Tuan, Le Khuong Thai, Van Vo Niem Thanh, Le Thuc-Nhi Nguyen, Vu Hoang Anh, Mai Thao Phuo |
The Frequency of Korean Patients With Parkinson's Disease Carrying GBA Mutations in a Subgroup With Age at Onset ? 55 Years Old. Journal of movement disorders 2023 3 . Hwangbo Jin, Lee Myung Jun, Kim Sang Jin, Lee Jae-Hye |
Post-translational proteomics platform identifies neurite outgrowth impairments in Parkinson's disease GBA-N370S dopamine neurons. Cell reports 2023 3 42 (3): 112180. Bogetofte Helle, Ryan Brent J, Jensen Pia, Schmidt Sissel I, Vergoossen Dana L E, Barnkob Mike B, Kiani Lisa N, Chughtai Uroosa, Heon-Roberts Rachel, Caiazza Maria Claudia, McGuinness William, Márquez-Gómez Ricardo, Vowles Jane, Bunn Fiona S, Brandes Janine, Kilfeather Peter, Connor Jack P, Fernandes Hugo J R, Caffrey Tara M, Meyer Morten, Cowley Sally A, Larsen Martin R, Wade-Martins Richa |
Cross-phenotype association analysis of gastric cancer: in-silico functional annotation based on the disease-gene network. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2023 3 . Lee Sangjun, Yang Han-Kwang, Lee Hyuk-Joon, Park Do Joong, Kong Seong-Ho, Park Sue |
Predictors of cognitive impairment in newly diagnosed Parkinson's disease with normal cognition at baseline: A 5-year cohort study. Frontiers in aging neuroscience 2023 3 15 1142558. Chen Jing, Zhao Danhua, Wang Qi, Chen Junyi, Bai Chaobo, Li Yuan, Guo Xintong, Chen Baoyu, Zhang Lin, Yuan Junlia |
Differences in Survival across Monogenic Forms of Parkinson's Disease. Annals of neurology 2023 3 . Lanore Aymeric, Casse Fanny, Tesson Christelle, Courtin Thomas, Menon Poornima Jayadev, Sambin Sara, Mangone Graziella, Mariani Louise-Laure, Lesage Suzanne, Brice Alexis, Elbaz Alexis, Corvol Jean-Christophe, |
Inflammatory CSF profiles and longitudinal development of cognitive decline in sporadic and GBA-associated PD. NPJ Parkinson's disease 2023 3 9 (1): 38. Lerche Stefanie, Zimmermann Milan, Roeben Benjamin, Wurster Isabel, Fries Franca Laura, Deuschle Christian, Waniek Katharina, Lachmann Ingolf, Jakobi Meike, Joos Thomas O, Knorpp Thomas, Schneiderhan-Marra Nicole, Brockmann Kathr |
Association of GBA genotype with motor and cognitive decline in Chinese Parkinson's disease patients. Frontiers in aging neuroscience 2023 2 15 1091919. Ren Jingru, Zhou Gaiyan, Wang Yajie, Zhang Ronggui, Guo Zhiying, Zhou Hao, Zheng Huifen, Sun Yu, Ma Changyan, Lu Ming, Liu Weig |
Impact of GBA variants on longitudinal freezing of gait progression in early Parkinson's disease. Journal of neurology 2023 2 . Yang Nannan, Sang Shushan, Peng Tao, Hu Wentao, Wang Jingtao, Bai Rong, Lu Ho |
Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's disease. NPJ Parkinson's disease 2023 12 9 (1): 160. Gabriel Miltenberger-Miltenyi, Roberto A Ortega, Aloysius Domingo, Rachita Yadav, Ayumi Nishiyama, Deborah Raymond, Viktoriya Katsnelson, Nikita Urval, Matthew Swan, Vicki Shanker, Joan Miravite, Ruth H Walker, Susan B Bressman, Laurie J Ozelius, José C Cabassa, Rachel Saunders-Pullm |
GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 12 . Tamás Szlepák, Annabel P Kossev, Dóra Csabán, Anett Illés, Szabolcs Udvari, Péter Balicza, Beáta Borsos, Annamária Takáts, Péter Klivényi, Mária J Moln |
Gene-environment interactions for Parkinson's disease. Annals of neurology 2023 12 . Alexandra Reynoso, Roberta Torricelli, Benjamin Meir Jacobs, Jingchunzi Shi, Stella Aslibekyan, Lucy Norcliffe-Kaufmann, Alastair J Noyce, Karl Heilbr |
Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients. International journal of molecular and cellular medicine 2023 11 12 (1): 40-50. Negar Sardarpour, Hamideh Bagherian, Fatemeh Zafarghandi Motlagh, Tina Shirzadeh, Sadaf Asnavandi, Shahrzad Younesikhah, Shadab Salehpour, Aria Setoodeh, Mohammad Reza Alaei, Sirous Zeina |
Levodopa-carbidopa intestinal gel infusion (LCIG) in Parkinson disease with genetic mutations. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 11 . R Balestrino, T Martone, M Toffoli, E Montanaro, M Fabbri, C A Artusi, A Romagnolo, M Zibetti, M Rizzone, S Goldwurm, L Lopiano, A H V Schapi |
Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand. PloS one 2023 10 18 (10): e0293516. Sekh Thanprasertsuk, Prasit Phowthongkum, Thitipong Hopetrungraung, Chalalai Poorirerngpoom, Tikumphorn Sathirapatya, Patsorn Wichit, Onanong Phokaewvarangkul, Kornkiat Vongpaisarnsin, Saknan Bongsebandhu-Phubhakdi, Roongroj Bhidayasi |
Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort. Journal of neurology, neurosurgery, and psychiatry 2023 10 . Micol Avenali, Roberta Zangaglia, Giada Cuconato, Ilaria Palmieri, Alberto Albanese, Carlo Alberto Artusi, Marco Bozzali, Giovanna Calandra-Buonaura, Francesco Cavallieri, Roberto Cilia, Antoniangela Cocco, Filippo Cogiamanian, Fabiana Colucci, Pietro Cortelli, Alessio Di Fonzo, Roberto Eleopra, Giulia Giannini, Alberto Imarisio, Gabriele Imbalzano, Claudia Ledda, Leonardo Lopiano, Maria Chiara Malaguti, Francesca Mameli, Raffaella Minardi, Pierfrancesco Mitrotti, Edoardo Monfrini, Francesca Spagnolo, Cristina Tassorelli, Francesca Valentino, Franco Valzania, Claudio Pacchetti, Enza Maria Valente, |
Cognitive Dysfunction and Affective Mood Disorder Screening in Patients With Chronic Inflammatory Bowel Disease: Protocol for a Prospective Case-Control Study. JMIR research protocols 2023 10 12 e50546. Oliviu Florentiu Sarb, Vitalie Vacaras, Adriana Sarb, Maria Iacobescu, Alina-Ioana Tant |
Protective Effects of Coptis chinensis Rhizome Extract and Its Constituents (Berberine, Coptisine, and Palmatine) against ?-Synuclein Neurotoxicity in Dopaminergic SH-SY5Y Cells. Biological & pharmaceutical bulletin 2024 4 47 (4): 827-839. Chih-Hsin Lin, Yih-Ru Wu, Chih-Ying Chao, Kuo-Hsuan Chang, Chiung-Mei Chen, Wan-Ling Chen, Pei-Ning Yang, Guey-Jen Lee-Ch |
Proxy-analysis of the genetics of cognitive decline in Parkinson's disease through polygenic scores. NPJ Parkinson's disease 2024 1 10 (1): 8. Johann Faouzi, Manuela Tan, Fanny Casse, Suzanne Lesage, Christelle Tesson, Alexis Brice, Graziella Mangone, Louise-Laure Mariani, Hirotaka Iwaki, Olivier Colliot, Lasse Pihlstrøm, Jean-Christophe Corv |
The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene. Journal of integrative neuroscience 2024 1 23 (1): 16. Tatiana S Usenko, Alla Timofeeva, Mariia Beletskaia, Katerina Basharova, Galina Baydakova, Anastasia Bezrukova, Maria Grunina, Anton Emelyanov, Irina Miliukhina, Ekaterina Zakharova, Sofya Pcheli |
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- Page last updated:Apr 22, 2024
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