Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 121 Records) |
| Query Trace: Disease and PINK1[original query] |
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| Characterization of Recessive Parkinson Disease in a Large Multicenter Study. Annals of neurology 2020 Oct 88 (4): 843-850. Lesage Suzanne, Lunati Ariane, Houot Marion, Romdhan Sawssan Ben, Clot Fabienne, Tesson Christelle, Mangone Graziella, Toullec Benjamin Le, Courtin Thomas, Larcher Kathy, Benmahdjoub Mustapha, Arezki Mohamed, Bouhouche Ahmed, Anheim Mathieu, Roze Emmanuel, Viallet François, Tison François, Broussolle Emmanuel, Emre Murat, Hanagasi Hasmet, Bilgic Basar, Tazir Meriem, Djebara Mouna Ben, Gouider Riadh, Tranchant Christine, Vidailhet Marie, Le Guern Eric, Corti Olga, Mhiri Chokri, Lohmann Ebba, Singleton Andrew, Corvol Jean-Christophe, Brice Alexis, |
| ApoE4 attenuates autophagy via FoxO3a repression in the brain. Scientific reports 2021 9 11 (1): 17604. Sohn Hee-Young, Kim Seong-Ik, Park Jee-Yun, Park Sung-Hye, Koh Young Ho, Kim Joon, Jo Chulm |
| Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease. Frontiers in neurology 2021 8 12 656342. Torrealba-Acosta Gabriel, Yu Eric, Lobo-Prada Tanya, Ruíz-Martínez Javier, Gorostidi-Pagola Ana, Gan-Or Ziv, Carazo-Céspedes Kenneth, Trempe Jean-François, Mata Ignacio F, Fornaguera-Trías Jai |
| Identification of sixteen novel candidate genes for late onset Parkinson's disease. Molecular neurodegeneration 2021 6 16 (1): 35. Gialluisi Alessandro, Reccia Mafalda Giovanna, Modugno Nicola, Nutile Teresa, Lombardi Alessia, Di Giovannantonio Luca Giovanni, Pietracupa Sara, Ruggiero Daniela, Scala Simona, Gambardella Stefano, , Iacoviello Licia, Gianfrancesco Fernando, Acampora Dario, D'Esposito Maurizio, Simeone Antonio, Ciullo Marina, Esposito Tere |
| R869C mutation in molecular motor KIF17 gene is involved in dementia with Lewy bodies. Alzheimer's & dementia (Amsterdam, Netherlands) 2021 6 13 (1): e12143. Goldstein Orly, Gana-Weisz Mali, Shiner Tamara, Attar Reut, Mordechai Yael, Waldman Yedael Y, Bar-Shira Anat, Thaler Avner, Gurevich Tanya, Mirelman Anat, Giladi Nir, Orr-Urtreger A |
| Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe. Parkinsonism & related disorders 2021 Apr 86 48-51. Milanowski ?ukasz M, Lindemann Jennifer A, Hoffman-Zacharska Dorota, Soto-Beasley Alexandra I, Barcikowska Maria, Boczarska-Jedynak Magdalena, Deutschlander Angela, K?odowska Gabriela, Dulski Jaros?aw, Fedoryshyn Lyuda, Friedman Andrzej, Jamrozik Zygmunt, Janik Piotr, Karpinsky Katherine, Koziorowski Dariusz, Krygowska-Wajs Anna, Jasi?ska-Myga Barbara, Opala Grzegorz, Potulska-Chromik Anna, Pulyk Aleksander, Rektorova Irena, Sanotsky Yanosh, Siuda Joanna, S?awek Jaros?aw, ?mi?owska Katarzyna, Szczechowski Lech, Rudzi?ska-Bar Monika, Walton Ronald L, Ross Owen A, Wszolek Zbigniew |
| PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson's disease in Ireland. Irish journal of medical science 2021 Mar . Olszewska Diana A, McCarthy Allan, Soto-Beasley Alexandra I, Walton Ronald L, Ross Owen A, Lynch T |
| Early-Onset Parkinson Disease Screening in Patients From Nigeria. Frontiers in neurology 2021 2 11 594927. Milanowski Lukasz M, Oshinaike Olajumoke, Broadway Benjamin J, Lindemann Jennifer A, Soto-Beasley Alexandra I, Walton Ronald L, Hanna Al-Shaikh Rana, Strongosky Audrey J, Fiesel Fabienne C, Ross Owen A, Springer Wolfdieter, Ogun Shamsideen Abayomi, Wszolek Zbigniew |
| Association between CSF alpha-synuclein seeding activity and genetic status in Parkinson's disease and dementia with Lewy bodies. Acta neuropathologica communications 2021 Oct 9 (1): 175. Brockmann Kathrin, Quadalti Corinne, Lerche Stefanie, Rossi Marcello, Wurster Isabel, Baiardi Simone, Roeben Benjamin, Mammana Angela, Zimmermann Milan, Hauser Ann-Kathrin, Deuschle Christian, Schulte Claudia, Waniek Katharina, Lachmann Ingolf, Sjödin Simon, Brinkmalm Ann, Blennow Kaj, Zetterberg Henrik, Gasser Thomas, Parchi Pie |
| Targeting Mitochondria as a Therapeutic Approach for Parkinson's Disease. Cellular and molecular neurobiology 2022 8 . Abrishamdar Maryam, Jalali Maryam Sadat, Farbood Yagho |
| 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 |
| Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease. Brain : a journal of neurology 2022 12 . Trinh Joanne, Hicks Andrew A, König Inke R, Delcambre Sylvie, Lüth Theresa, Schaake Susen, Wasner Kobi, Ghelfi Jenny, Borsche Max, Vilariño-Güell Carles, Hentati Faycel, Germer Elisabeth L, Bauer Peter, Takanashi Masashi, Kosti? Vladimir, Lang Anthony E, Brüggemann Norbert, Pramstaller Peter P, Pichler Irene, Rajput Alex, Hattori Nobutaka, Farrer Matthew J, Lohmann Katja, Weissensteiner Hansi, May Patrick, Klein Christine, Grünewald An |
| Genetic Study of Early Onset Parkinson's Disease in Cyprus. International journal of molecular sciences 2022 12 23 (23): . Abu Manneh Rana, Chairta Paraskevi P, Mitsi Ellie, Loizidou Maria A, Georgiou Andrea N, Christou Yiolanda P, Pantzaris Marios, Zamba-Papanicolaou Eleni, Hadjisavvas Andre |
| The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration. International journal of molecular sciences 2022 11 23 (21): . Rossi Giacomina, Salvi Erika, Benussi Luisa, Mehmeti Elkadia, Geviti Andrea, Bellini Sonia, Longobardi Antonio, Facconi Alessandro, Carrara Matteo, Bonvicini Cristian, Nicsanu Roland, Saraceno Claudia, Ricci Martina, Giaccone Giorgio, Binetti Giuliano, Ghidoni Rober |
| Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent. Neurobiology of aging 2022 10 119 136-138. Hu Jing, Waters Cheryl H, Spiegelman Dan, Fon Edward A, Yu Eric, Asayesh Farnaz, Krohn Lynne, Saini Prabhjyot, Alcalay Roy N, Hassin-Baer Sharon, Gan-Or Ziv, Krainc Dimitri, Zhang BaoRong, Bustos Bernabe I, Lubbe Steven J, |
| High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic. Life (Basel, Switzerland) 2022 1 12 (1): . Kolarikova Kristyna, Vodicka Radek, Vrtel Radek, Stellmachova Julia, Prochazka Martin, Mensikova Katerina, Bartonikova Tereza, Furst Tomas, Kanovsky Petr, Geryk J |
| Genetic study of early-onset Parkinson's disease in the Malaysian population. Parkinsonism & related disorders 2023 5 111 105399. Yi Wen Tay, Ai Huey Tan, Jia Lun Lim, Katja Lohmann, Khairul Azmi Ibrahim, Zariah Abdul Aziz, Yen Theng Chin, Ahmad Shahir Mawardi, Thien Thien Lim, Irene Looi, Yuen Kang Chia, Joshua Chin Ern Ooi, Wee Kooi Cheah, Alfand Marl F Dy Closas, Lei Cheng Lit, Jia Wei Hor, Tzi Shin Toh, Kalai Arasu Muthusamy, Peter Bauer, Volha Skrahin, Arndt Rolfs, Christine Klein, Azlina Ahmad-Annuar, Shen-Yang L |
| 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 screening of Filipinos suspected with familial Parkinson's disease: A pilot study. Parkinsonism & related disorders 2023 2 108 105319. Caritativo Erin Camille A, Yu Jeryl Ritzi T, Bautista Juan Miguel P, Nishioka Kenya, Jamora Roland Dominic G, Yalung Patrick M, Ng Arlene R, Hattori Nobuta |
| Integrated omics analysis of coronary artery calcifications and myocardial infarction: the Framingham Heart Study. Scientific reports 2023 12 13 (1): 21581. Amalie Lykkemark Møller, Ramachandran S Vasan, Daniel Levy, Charlotte Andersson, Honghuang L |
| The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review. Genes 2023 11 14 (11): . Christos Koros, Anastasia Bougea, Athina Maria Simitsi, Nikolaos Papagiannakis, Efthalia Angelopoulou, Ioanna Pachi, Roubina Antonelou, Maria Bozi, Maria Stamelou, Leonidas Stefan |
| 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 |
| Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W. Cells 2024 9 13 (18): . Bernardo A Bustillos, Liam T Cocker, Mathew A Coban, Caleb A Weber, Jenny M Bredenberg, Paige K Boneski, Joanna Siuda, Jaroslaw Slawek, Andreas Puschmann, Derek P Narendra, Neill R Graff-Radford, Zbigniew K Wszolek, Dennis W Dickson, Owen A Ross, Thomas R Caulfield, Wolfdieter Springer, Fabienne C Fies |
| The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study. medRxiv : the preprint server for health sciences 2024 8 . Kensuke Daida, Hiroyo Yoshino, Laksh Malik, Breeana Baker, Mayu Ishiguro, Rylee Genner, Kimberly Paquette, Yuanzhe Li, Kenya Nishioka, Satoshi Masuzugawa, Makito Hirano, Kenta Takahashi, Mikhail Kolmogolv, Kimberley J Billingsley, Manabu Funayama, Cornelis Blauwendraat, Nobutaka Hatto |
| Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study. Brain : a journal of neurology 2024 8 147 (8): 2652-2667. Ana Westenberger, Volha Skrahina, Tatiana Usnich, Christian Beetz, Eva-Juliane Vollstedt, Björn-Hergen Laabs, Jefri J Paul, Filipa Curado, Snezana Skobalj, Hanaa Gaber, Maria Olmedillas, Xenia Bogdanovic, Najim Ameziane, Nathalie Schell, Jan Olav Aasly, Mitra Afshari, Pinky Agarwal, Jason Aldred, Fernando Alonso-Frech, Roderick Anderson, Rui Araújo, David Arkadir, Micol Avenali, Mehmet Balal, Sandra Benizri, Sagari Bette, Perminder Bhatia, Michael Bonello, Pedro Braga-Neto, Sarah Brauneis, Francisco Eduardo Costa Cardoso, Francesco Cavallieri, Joseph Classen, Lisa Cohen, Della Coletta, David Crosiers, Paskal Cullufi, Khashayar Dashtipour, Meltem Demirkiran, Patricia de Carvalho Aguiar, Anna De Rosa, Ruth Djaldetti, Okan Dogu, Maria Gabriela Dos Santos Ghilardi, Carsten Eggers, Bulent Elibol, Aaron Ellenbogen, Sibel Ertan, Giorgio Fabiani, Björn H Falkenburger, Simon Farrow, Tsviya Fay-Karmon, Gerald J Ferencz, Erich Talamoni Fonoff, Yara Dadalti Fragoso, Gençer Genç, Arantza Gorospe, Francisco Grandas, Doreen Gruber, Mark Gudesblatt, Tanya Gurevich, Johann Hagenah, Hasmet A Hanagasi, Sharon Hassin-Baer, Robert A Hauser, Jorge Hernández-Vara, Birgit Herting, Vanessa K Hinson, Elliot Hogg, Michele T Hu, Eduardo Hummelgen, Kelly Hussey, Jon Infante, Stuart H Isaacson, Serge Jauma, Natalia Koleva-Alazeh, Gregor Kuhlenbäumer, Andrea Kühn, Irene Litvan, Lydia López-Manzanares, McKenzie Luxmore, Sujeena Manandhar, Veronique Marcaud, Katerina Markopoulou, Connie Marras, Mark McKenzie, Michele Matarazzo, Marcelo Merello, Brit Mollenhauer, John C Morgan, Stephen Mullin, Thomas Musacchio, Bennett Myers, Anna Negrotti, Anette Nieves, Zeev Nitsan, Nader Oskooilar, Özgür Öztop-Çakmak, Gian Pal, Nicola Pavese, Antonio Percesepe, Tommaso Piccoli, Carolina Pinto de Souza, Tino Prell, Mark Pulera, Jason Raw, Kathrin Reetz, Johnathan Reiner, David Rosenberg, Marta Ruiz-Lopez, Javier Ruiz Martinez, Esther Sammler, Bruno Lopes Santos-Lobato, Rachel Saunders-Pullman, Ilana Schlesinger, Christine M Schofield, Artur F Schumacher-Schuh, Burton Scott, Ángel Sesar, Stuart J Shafer, Ray Sheridan, Monty Silverdale, Rani Sophia, Mariana Spitz, Pantelis Stathis, Fabrizio Stocchi, Michele Tagliati, Yen F Tai, Annelies Terwecoren, Sven Thonke, Lars Tönges, Giulia Toschi, Vitor Tumas, Peter Paul Urban, Laura Vacca, Wim Vandenberghe, Enza Maria Valente, Franco Valzania, Lydia Vela-Desojo, Caroline Weill, David Weise, Joanne Wojcieszek, Martin Wolz, Gilad Yahalom, Gul Yalcin-Cakmakli, Simone Zittel, Yair Zlotnik, Krishna K Kandaswamy, Alexander Balck, Henrike Hanssen, Max Borsche, Lara M Lange, Ilona Csoti, Katja Lohmann, Meike Kasten, Norbert Brüggemann, Arndt Rolfs, Christine Klein, Peter Bau |
| Parkinson's Disease Gene Screening in Familial Cases from Central and South America. Movement disorders : official journal of the Movement Disorder Society 2024 7 . Oswaldo Lorenzo-Betancor, Seysha Mehta, Janvi Ramchandra, Sekinat Mumuney, Artur F Schumacher-Schuh, Mario Cornejo-Olivas, Elison H Sarapura-Castro, Luis Torres, Miguel A Inca-Martinez, Pilar Mazzetti, Carlos Cosentino, Federico Micheli, Vitor Tumas, Elena Dieguez, Victor Raggio, Vanderci Borges, Henrique B Ferraz, Pedro Chana-Cuevas, Marlene Jimenez-Del-Rio, Carlos Velez-Pardo, Sonia Moreno, Francisco Lopera, Jorge L Orozco-Velez, Beatriz Muñoz-Ospina, Carlos R M Rieder, Alex Medina-Escobar, Dora Yearout, Cyrus P Zabetian, Ignacio F Mata, |
| Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease. NPJ Parkinson's disease 2024 10 10 (1): 188. Clodagh Towns, Zih-Hua Fang, Manuela M X Tan, Simona Jasaityte, Theresa M Schmaderer, Eleanor J Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M Lange, Anthony H V Schapira, Kailash P Bhatia, , , Andrew B Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W Wood, Paul R Jarman, Huw R Morris, Raquel Re |
| Genetic landscape of Parkinson's disease and related diseases in Luxembourg. Frontiers in aging neuroscience 2024 1 15 1282174. Zied Landoulsi, Sinthuja Pachchek, Dheeraj Reddy Bobbili, Lukas Pavelka, Patrick May, Rejko Krüger, |
| miRNA family miR-29 inhibits PINK1-PRKN dependent mitophagy via ATG9A. bioRxiv : the preprint server for biology 2024 1 . Briana N Markham, Chloe Ramnarine, Songeun Kim, William E Grever, Alexandra I Soto-Beasley, Michael Heckman, Yingxue Ren, Andrew C Osborne, Aditya V Bhagwate, Yuanhang Liu, Chen Wang, Jungsu Kim, Zbigniew K Wszolek, Owen A Ross, Wolfdieter Springer, Fabienne C Fies |
- Page last reviewed:Feb 1, 2024
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