Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 94 Records) |
| Query Trace: Disease and PARK2[original query] |
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| Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure. Psychiatric genetics 2016 Nov . Conceição Inês C, Rama Maria M, Oliveira Bárbara, Café Cátia, Almeida Joana, Mouga Susana, Duque Frederico, Oliveira Guiomar, Vicente Astrid |
| Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China. Scientific reports 2016 Nov 6 37086. Wang Dong, Zhang Deng-Feng, Feng Jia-Qi, Li Guo-Dong, Li Xiao-An, Yu Xiu-Feng, Long Heng, Li Yu-Ye, Yao Yong-Ga |
| Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population. Journal of molecular neuroscience : MN 2017 9 63 (2): 216-222. Ben-Shachar Shay, Afawi Zaid, Masalha Rafik, Badarny Samih, Neiman Tova, Pavzner Dina, Bar-Shira Anat, Orr-Urtreger A |
| Reduced expression of PARK2 in manganese-exposed smelting workers. Neurotoxicology 2017 8 62 258-264. Fan Ximin, Luo Ying, Fan Qiyuan, Zheng W |
| Genetic loci associated with an earlier age at onset in multiplex schizophrenia. Scientific reports 2017 Jul 7 (1): 6486. Woolston Annemarie L, Hsiao Po-Chang, Kuo Po-Hsiu, Wang Shi-Heng, Lien Yin-Ju, Liu Chih-Min, Hwu Hai-Gwo, Lu Tzu-Pin, Chuang Eric Y, Chang Li-Ching, Chen Chien-Hsiun, Wu Jer-Yuarn, Tsuang Ming T, Chen Wei |
| Integrative Analysis to Identify Common Genetic Markers of Metabolic Syndrome, Dementia, and Diabetes. Medical science monitor : international medical journal of experimental and clinical research 2017 12 23 5885-5891. Zhang Weihong, Xin Linlin, Lu Yi |
| TOMM40 and APOE Gene Expression and Cognitive Decline in Japanese Alzheimer's Disease Subjects. Journal of Alzheimer's disease : JAD 2017 60 (3): 1107-1117. Mise Ayano, Yoshino Yuta, Yamazaki Kiyohiro, Ozaki Yuki, Sao Tomoko, Yoshida Taku, Mori Takaaki, Mori Yoko, Ochi Shinichiro, Iga Jun-Ichi, Ueno Shu-Ic |
Genome-wide association study identifies MAPT locus influencing human plasma tau levels.
Neurology 2017 Jan . Chen Jason, Yu Jin-Tai, Wojta Kevin, Wang Hui-Fu, Zetterberg Henrik, Blennow Kaj, Yokoyama Jennifer S, Weiner Michael W, Kramer Joel H, Rosen Howard, Miller Bruce L, Coppola Giovanni, Boxer Adam L, |
| Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population. Neurobiology of aging 2018 May . Diez-Fairen Monica, Benitez Bruno A, Ortega-Cubero Sara, Lorenzo-Betancor Oswaldo, Cruchaga Carlos, Lorenzo Elena, Samaranch Lluis, Carcel Maria, Obeso Jose A, Rodriguez-Oroz Maria Cruz, Aguilar Miquel, Coria Francisco, Pastor Maria A, Pastor P |
| Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project. Parkinsonism & related disorders 2018 1 49 34-41. Bentley Steven R, Bortnick Stephanie, Guella Ilaria, Fowdar Javed Y, Silburn Peter A, Wood Stephen A, Farrer Matthew J, Mellick George |
| PARK2 and PARK7 Gene Polymorphisms as Risk Factors Associated with Serum Element Concentrations and Clinical Symptoms of Parkinson's Disease. Cellular and molecular neurobiology 2019 Sep . Sanyal Jaya, Anirudhan Athira, Banerjee Tapas Kumar, Guha Gautam, Ramakrishnan Veerabathiran , Murugesan Ram, Ahmed S S J Shiek, Rao Vadlamudi Raghavend |
| Han Chinese family with early-onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene. Brain and behavior 2019 8 9 (9): e01372. Huang Ting, Gao Chen-Yu, Wu Liang, Gong Peng-Yu, Wang Ji-Zheng, Tian You-Yong, Zhang Ying-Do |
| Expanding the canvas of PRKN mutations in familial and early-onset Parkinson disease. Parkinsonism & related disorders 2019 8 66 216-219. Pandey Sanjay, Tomar Laxmikant Ramkumarsingh, Kumar Sumeet, Dinesh Shreya, Thelma B |
| Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease. Proceedings of the National Academy of Sciences of the United States of America 2019 7 116 (31): 15616-15624. Fava Vinicius M, Xu Yong Zhong, Lettre Guillaume, Van Thuc Nguyen, Orlova Marianna, Thai Vu Hong, Tao Shao, Croteau Nathalie, Eldeeb Mohamed A, MacDougall Emma J, Cambri Geison, Lahiri Ramanuj, Adams Linda, Fon Edward A, Trempe Jean-François, Cobat Aurélie, Alcaïs Alexandre, Abel Laurent, Schurr Erw |
| The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease. Human molecular genetics 2019 4 28 (17): 2811-2825. Yi Wei, MacDougall Emma J, Tang Matthew Y, Krahn Andrea I, Gan-Or Ziv, Trempe Jean-François, Fon Edward |
| Genome-wide Network-assisted Association and Enrichment Study of Amyloid Imaging Phenotype in Alzheimer's Disease.
Current Alzheimer research 2019 16 (13): 1163-1174. Li Jin, Chen Feng, Zhang Qiushi, Meng Xianglian, Yao Xiaohui, Risacher Shannon L, Yan Jingwen, Saykin Andrew J, Liang Hong, Shen Li, |
| The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Movement disorders : official journal of the Movement Disorder Society 2019 12 34 (12): 1851-1863. Bandres-Ciga Sara, Ahmed Sarah, Sabir Marya S, Blauwendraat Cornelis, Adarmes-Gómez Astrid D, Bernal-Bernal Inmaculada, Bonilla-Toribio Marta, Buiza-Rueda Dolores, Carrillo Fátima, Carrión-Claro Mario, Gómez-Garre Pilar, Jesús Silvia, Labrador-Espinosa Miguel A, Macias Daniel, Méndez-Del-Barrio Carlota, Periñán-Tocino Teresa, Tejera-Parrado Cristina, Vargas-González Laura, Diez-Fairen Monica, Alvarez Ignacio, Tartari Juan Pablo, Buongiorno Mariateresa, Aguilar Miquel, Gorostidi Ana, Bergareche Jesús Alberto, Mondragon Elisabet, Vinagre-Aragon Ana, Croitoru Ioana, Ruiz-Martínez Javier, Dols-Icardo Oriol, Kulisevsky Jaime, Marín-Lahoz Juan, Pagonabarraga Javier, Pascual-Sedano Berta, Ezquerra Mario, Cámara Ana, Compta Yaroslau, Fernández Manel, Fernández-Santiago Rubén, Muñoz Esteban, Tolosa Eduard, Valldeoriola Francesc, Gonzalez-Aramburu Isabel, Sanchez Rodriguez Antonio, Sierra María, Menéndez-González Manuel, Blazquez Marta, Garcia Ciara, Suarez-San Martin Esther, García-Ruiz Pedro, Martínez-Castrillo Juan Carlos, Vela-Desojo Lydia, Ruz Clara, Barrero Francisco Javier, Escamilla-Sevilla Francisco, Mínguez-Castellanos Adolfo, Cerdan Debora, Tabernero Cesar, Gomez Heredia Maria Jose, Perez Errazquin Francisco, Romero-Acebal Manolo, Feliz Cici, Lopez-Sendon Jose Luis, Mata Marina, Martínez Torres Irene, Kim Jonggeol Jeffrey, Dalgard Clifton L, , Brooks Janet, Saez-Atienzar Sara, Gibbs J Raphael, Jorda Rafael, Botia Juan A, Bonet-Ponce Luis, Morrison Karen E, Clarke Carl, Tan Manuela, Morris Huw, Edsall Connor, Hernandez Dena, Simon-Sanchez Javier, Nalls Mike A, Scholz Sonja W, Jimenez-Escrig Adriano, Duarte Jacinto, Vives Francisco, Duran Raquel, Hoenicka Janet, Alvarez Victoria, Infante Jon, Marti Maria José, Clarimón Jordi, López de Munain Adolfo, Pastor Pau, Mir Pablo, Singleton Andrew, |
| International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci.
Nature communications 2019 Oct 10 (1): 4558. Nievergelt Caroline M, Maihofer Adam X, Klengel Torsten, Atkinson Elizabeth G, Chen Chia-Yen, Choi Karmel W, Coleman Jonathan R I, Dalvie Shareefa, Duncan Laramie E, Gelernter Joel, Levey Daniel F, Logue Mark W, Polimanti Renato, Provost Allison C, Ratanatharathorn Andrew, Stein Murray B, Torres Katy, Aiello Allison E, Almli Lynn M, Amstadter Ananda B, Andersen Søren B, Andreassen Ole A, Arbisi Paul A, Ashley-Koch Allison E, Austin S Bryn, Avdibegovic Esmina, Babi? Dragan, Bækvad-Hansen Marie, Baker Dewleen G, Beckham Jean C, Bierut Laura J, Bisson Jonathan I, Boks Marco P, Bolger Elizabeth A, Børglum Anders D, Bradley Bekh, Brashear Megan, Breen Gerome, Bryant Richard A, Bustamante Angela C, Bybjerg-Grauholm Jonas, Calabrese Joseph R, Caldas-de-Almeida José M, Dale Anders M, Daly Mark J, Daskalakis Nikolaos P, Deckert Jürgen, Delahanty Douglas L, Dennis Michelle F, Disner Seth G, Domschke Katharina, Dzubur-Kulenovic Alma, Erbes Christopher R, Evans Alexandra, Farrer Lindsay A, Feeny Norah C, Flory Janine D, Forbes David, Franz Carol E, Galea Sandro, Garrett Melanie E, Gelaye Bizu, Geuze Elbert, Gillespie Charles, Uka Aferdita Goci, Gordon Scott D, Guffanti Guia, Hammamieh Rasha, Harnal Supriya, Hauser Michael A, Heath Andrew C, Hemmings Sian M J, Hougaard David Michael, Jakovljevic Miro, Jett Marti, Johnson Eric Otto, Jones Ian, Jovanovic Tanja, Qin Xue-Jun, Junglen Angela G, Karstoft Karen-Inge, Kaufman Milissa L, Kessler Ronald C, Khan Alaptagin, Kimbrel Nathan A, King Anthony P, Koen Nastassja, Kranzler Henry R, Kremen William S, Lawford Bruce R, Lebois Lauren A M, Lewis Catrin E, Linnstaedt Sarah D, Lori Adriana, Lugonja Bozo, Luykx Jurjen J, Lyons Michael J, Maples-Keller Jessica, Marmar Charles, Martin Alicia R, Martin Nicholas G, Maurer Douglas, Mavissakalian Matig R, McFarlane Alexander, McGlinchey Regina E, McLaughlin Katie A, McLean Samuel A, McLeay Sarah, Mehta Divya, Milberg William P, Miller Mark W, Morey Rajendra A, Morris Charles Phillip, Mors Ole, Mortensen Preben B, Neale Benjamin M, Nelson Elliot C, Nordentoft Merete, Norman Sonya B, O'Donnell Meaghan, Orcutt Holly K, Panizzon Matthew S, Peters Edward S, Peterson Alan L, Peverill Matthew, Pietrzak Robert H, Polusny Melissa A, Rice John P, Ripke Stephan, Risbrough Victoria B, Roberts Andrea L, Rothbaum Alex O, Rothbaum Barbara O, Roy-Byrne Peter, Ruggiero Ken, Rung Ariane, Rutten Bart P F, Saccone Nancy L, Sanchez Sixto E, Schijven Dick, Seedat Soraya, Seligowski Antonia V, Seng Julia S, Sheerin Christina M, Silove Derrick, Smith Alicia K, Smoller Jordan W, Sponheim Scott R, Stein Dan J, Stevens Jennifer S, Sumner Jennifer A, Teicher Martin H, Thompson Wesley K, Trapido Edward, Uddin Monica, Ursano Robert J, van den Heuvel Leigh Luella, Van Hooff Miranda, Vermetten Eric, Vinkers Christiaan H, Voisey Joanne, Wang Yunpeng, Wang Zhewu, Werge Thomas, Williams Michelle A, Williamson Douglas E, Winternitz Sherry, Wolf Christiane, Wolf Erika J, Wolff Jonathan D, Yehuda Rachel, Young Ross McD, Young Keith A, Zhao Hongyu, Zoellner Lori A, Liberzon Israel, Ressler Kerry J, Haas Magali, Koenen Karestan |
| MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. PeerJ 2019 6 e6183. Capkova Pavlina, Srovnal Josef, Capkova Zuzana, Staffova Katerina, Becvarova Vera, Trkova Marie, Adamova Katerina, Santava Alena, Curtisova Vaclava, Hajduch Marian, Prochazka Mart |
| A genetic analysis of a Spanish population with early onset Parkinson's disease. PloS one 2020 15 (9): e0238098. Cristina Tejera-Parrado, Pablo Mir, Teresa Periñán María, Lydia Vela-Desojo, Irene Abreu-Rodríguez, Araceli Alonso-Cánovas, Inmaculada Bernal-Bernal, Marta Bonilla-Toribio, Dolores Buiza-Rueda, José Catalán-Alonso María, Rocío García-Ramos, José García-Ruiz Pedro, Ismael Huertas-Fernández, Silvia Jesús, Labrador Miguel A-Espinosa, Lydia López-Manzanares, Carlos Martínez-Castrillo Juan, Posada Ignacio J, Ana Rojo-Sebastián, Cristina Ruiz-Huete, Javier Del Val, Gómez-Garre Pil |
| Mutation Analysis of the Genes Associated with Parkinson's Disease in a Finnish Cohort of Early-Onset Dementia. Journal of Alzheimer's disease : JAD 2020 6 76 (3): 955-965. Luukkainen Laura, Huttula Samuli, Väyrynen Henri, Helisalmi Seppo, Kytövuori Laura, Haapasalo Annakaisa, Hiltunen Mikko, Remes Anne M, Krüger Johan |
| Event-related potential changes due to early-onset Parkinson's disease in parkin (PARK2) gene mutation carriers and non-carriers. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2020 5 131 (7): 1444-1452. Uslu Atilla, Ergen Mehmet, Demirci Hasan, Lohmann Ebba, Hanagasi Hasmet, Demiralp Tam |
| Contribution of rare variant associations to neurodegenerative disease presentation. NPJ genomic medicine 2021 9 6 (1): 80. Dilliott Allison A, Abdelhady Abdalla, Sunderland Kelly M, Farhan Sali M K, Abrahao Agessandro, Binns Malcolm A, Black Sandra E, Borrie Michael, Casaubon Leanne K, Dowlatshahi Dar, Finger Elizabeth, Fischer Corinne E, Frank Andrew, Freedman Morris, Grimes David, Hassan Ayman, Jog Mandar, Kumar Sanjeev, Kwan Donna, Lang Anthony E, Mandzia Jennifer, Masellis Mario, McIntyre Adam D, Pasternak Stephen H, Pollock Bruce G, Rajji Tarek K, Rogaeva Ekaterina, Sahlas Demetrios J, Saposnik Gustavo, Sato Christine, Seitz Dallas, Shoesmith Christen, Steeves Thomas D L, Swartz Richard H, Tan Brian, Tang-Wai David F, Tartaglia Maria C, Turnbull John, Zinman Lorne, , Hegele Robert |
| 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 |
| Analysis of the genomic landscape of yolk sac tumors reveals mechanisms of evolution and chemoresistance. Nature communications 2021 6 12 (1): 3579. Zong Xuan, Zhang Ying, Peng Xinxin, Cao Dongyan, Yu Mei, Wang Jinhui, Li Hongyue, Guo Xuejiao, Liang Han, Yang Jiax |
| The identification of novel gene mutations for degenerative lumbar spinal stenosis using whole-exome sequencing in a Chinese cohort. BMC medical genomics 2021 May 14 (1): 134. Jiang Xin, Chen Do |
| The high frequency of chromosomal copy number variations and candidate genes in epilepsy patients. Clinical neurology and neurosurgery 2021 Jan 202 106487. Albuz Burcu, Ozdemir Ozturk, Silan Fat |
| 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 |
| Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency. Journal of assisted reproduction and genetics 2022 1 39 (3): 695-710. Turkyilmaz Ayberk, Alavanda Ceren, Ates Esra Arslan, Geckinli Bilgen Bilge, Polat Hamza, Gokcu Mehmet, Karakaya Taner, Cebi Alper Han, Soylemez Mehmet Ali, Guney Ahmet ?lter, Ata Pinar, Arman Ahm |
| 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 |
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