Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Disease and PARK7[original query] |
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| Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism. Movement disorders : official journal of the Movement Disorder Society 2004 Sep 19 (9): 1065-9. Lockhart Paul J, Bounds Rebecca, Hulihan Mary, Kachergus Jennifer, Lincoln Sarah, Lin Chin-Hsien, Wu Ruey-Meei, Farrer Matthew |
| Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. Human mutation 2004 May 23 (5): 525. Djarmati A, Hedrich K, Svetel M, Schäfer N, Juric V, Vukosavic S, Hering R, Riess O, Romac S, Klein C, Kostic V |
| DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004 Feb 62 (3): 389-94. Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss P H, Hilker R, Vieregge P, Ozelius L J, Heutink P, Bonifati V, Schwinger E, Lang A E, Noth J, Bressman S B, Pramstaller P P, Riess O, Klein |
| Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population. Human mutation 2009 Jul 30 (7): 1054-61. Nuytemans Karen, Meeus Bram, Crosiers David, Brouwers Nathalie, Goossens Dirk, Engelborghs Sebastiaan, Pals Philippe, Pickut Barbara, Van den Broeck Marleen, Corsmit Ellen, Cras Patrick, De Deyn Peter P, Del-Favero Jurgen, Van Broeckhoven Christine, Theuns Jess |
| Analysis on the susceptibility genes in two chinese pedigrees with familial Parkinson's disease. Neurology research international 2010 12 2010 674740. Xu Changshui, Xu Jun, Zhang Yanmin, Ma Jianjun, Kawakami Hideshi, Maruyama Hirofumi, Kamada Masa |
| DJ-1 Mutations are Rare in a Swedish Parkinson Cohort. The open neurology journal 2011 5 8-11. Anvret Anna, Blackinton Jeff G, Westerlund Marie, Ran Caroline, Sydow Olof, Willows Thomas, Håkansson Anna, Nissbrandt Hans, Belin Andrea Carmi |
| Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society 2012 Oct 27 (12): 1522-9. Kilarski Laura L, Pearson Justin P, Newsway Victoria, Majounie Elisa, Knipe M Duleeka W, Misbahuddin Anjum, Chinnery Patrick F, Burn David J, Clarke Carl E, Marion Marie-Helene, Lewthwaite Alistair J, Nicholl David J, Wood Nicholas W, Morrison Karen E, Williams-Gray Caroline H, Evans Jonathan R, Sawcer Stephen J, Barker Roger A, Wickremaratchi Mirdhu M, Ben-Shlomo Yoav, Williams Nigel M, Morris Huw |
| Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. PloS one 2012 7 (3): e28787. Simón-Sánchez Javier, Kilarski Laura L, Nalls Michael A, Martinez Maria, Schulte Claudia, Holmans Peter, , , Gasser Thomas, Hardy John, Singleton Andrew B, Wood Nicholas W, Brice Alexis, Heutink Peter, Williams Nigel, Morris Huw |
| Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients. Neurologia i neurochirurgia polska 0 47 (4): 319-24. Koziorowski D, Hoffman-Zacharska D, S?awek J, Jamrozik Z, Janik P, Potulska-Chromik A, Roszmann A, Tataj R, Bal J, Friedman |
| Coeliac disease-associated polymorphisms influence thymic gene expression. Genes and immunity 2014 Sep 15 (6): 355-60. Amundsen S S, Viken M K, Sollid L M, Lie B |
| Low prevalence of most frequent pathogenic variants of six PARK genes in sporadic Parkinson's disease. Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences 2014 52 (1): 22-9. García Silvia, López-Hernández Luz Berenice, Suarez-Cuenca Juan Antonio, Solano-Rojas Marlene, Gallegos-Arreola Martha P, Gama-Moreno Olga, Valdez-Anguiano Paulina, Canto Patricia, Dávila-Maldonado Luis, Cuevas-García Carlos F, Coral-Vázquez Ramón Mauric |
| Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels. Molecular diagnosis & therapy 2016 Jun . Gorostidi Ana, Martí-Massó José Félix, Bergareche Alberto, Rodríguez-Oroz Mari Cruz, de Munain Adolfo López, Ruiz-Martínez Javi |
| 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 |
| 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 |
| 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 |
| Fine-mapping within eQTL credible intervals by expression CROP-seq. Biology methods & protocols 2020 7 5 (1): bpaa008. Pan Yidan, Tian Ruoyu, Lee Ciaran, Bao Gang, Gibson Gr |
| 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 |
| Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder. Movement disorders : official journal of the Movement Disorder Society 2020 10 36 (1): 235-240. Mufti Kheireddin, Rudakou Uladzislau, Yu Eric, Krohn Lynne, Ruskey Jennifer A, Asayesh Farnaz, Laurent Sandra B, Spiegelman Dan, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Dauvilliers Yves, Gigli Gian Luigi, Valente Mariarosaria, Janes Francesco, Högl Birgit, Stefani Ambra, Holzknecht Evi, Šonka Karel, Kemlink David, Oertel Wolfgang, Janzen Annette, Plazzi Giuseppe, Antelmi Elena, Figorilli Michela, Puligheddu Monica, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Döring Friederike, Cochen De Cock Valérie, Monaca Christelle Charley, Heidbreder Anna, Ferini-Strambi Luigi, Dijkstra Femke, Viaene Mineke, Abril Beatriz, Boeve Bradley F, Postuma Ronald B, Rouleau Guy A, Gan-Or Z |
| 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 |
| ?-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society 2021 6 36 (10): 2346-2357. Isonaka Risa, Goldstein David S, Zhu William, Yoon Esther, Ehrlich Debra, Schindler Alice B, Kokkinis Angela D, Sabir Marya S, Scholz Sonja W, Bandres-Ciga Sara, Blauwendraat Cornelis, Gonzalez-Alegre Pedro, Lopez Grisel, Sidransky Ellen, Narendra Derek |
| 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 |
| A genetic correlation scan identifies blood proteins associated with bone mineral density. BMC musculoskeletal disorders 2022 6 23 (1): 530. Xu Jiawen, Zhang Shaoyun, Si Haibo, Zeng Yi, Wu Yuangang, Liu Yuan, Li Mingyang, Wu Limin, Shen B |
| Targeted copy number variant identification across the neurodegenerative disease spectrum. Molecular genetics & genomic medicine 2022 Jun e1986. Dilliott Allison A, Zhang Kristina K, Wang Jian, Abrahao Agessandro, Binns Malcolm A, Black Sandra E, Borrie Michael, Dowlatshahi Dar, Finger Elizabeth, Fischer Corinne E, Frank Andrew, Freedman Morris, Grimes David, Hassan Ayman, Jog Mandar, Kumar Sanjeev, Lang Anthony E, Mandzia Jennifer, Masellis Mario, 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 |
| 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 |
| Parkinson's disease-associated 18 bp promoter variant of DJ-1 alters REST binding and regulates its expression. Neuroscience letters 2023 1 795 137051. Pal Prosenjit, Roy Shubhrajit, Chowdhury Abhishek, Chatterjee Raghunath, Ray Kunal, Ray Jhar |
| Genetic and clinical study of PARK7 in Japanese Parkinson's disease. Heliyon 2024 8 10 (15): e35271. Mayu Ishiguro, Manabu Funayama, Taku Hatano, Hiroshi Nishida, Yuko Wada, Kazuyuki Noda, Masahiko Tomiyama, Hiroyo Yoshino, Yuanzhe Li, Stephanie Ong, Ettore Cioffi, Kenya Nishioka, Nobutaka Hatto |
| Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis. European journal of neurology 2024 8 e16441. Xu-Ying Li, Hong Lai, Xian Li, Fanxi Xu, Yang Song, Zhanjun Wang, Qibin Li, Ruichai Lin, Zhiheng Xu, Chaodong Wa |
| 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, |
| 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, |
- Page last reviewed:Feb 1, 2024
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