Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Parkinson Disease and PINK1[original query] |
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| Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Archives of neurology 2004 Dec 61 (12): 1898-904. Rogaeva Ekaterina, Johnson Janel, Lang Anthony E, Gulick Cindy, Gwinn-Hardy Katrina, Kawarai Toshitaka, Sato Christine, Morgan Angharad, Werner John, Nussbaum Robert, Petit Agnes, Okun Michael S, McInerney Aideen, Mandel Ronald, Groen Justus L, Fernandez Hubert H, Postuma Ron, Foote Kelly D, Salehi-Rad Shabnam, Liang Yan, Reimsnider Sharon, Tandon Anurag, Hardy John, St George-Hyslop Peter, Singleton Andrew |
| PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology 2004 Oct 63 (8): 1486-8. Healy D G, Abou-Sleiman P M, Gibson J M, Ross O A, Jain S, Gandhi S, Gosal D, Muqit M M K, Wood N W, Lynch |
| LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology 2005 Sep 65 (5): 696-700. Paisán-Ruíz C, Lang A E, Kawarai T, Sato C, Salehi-Rad S, Fisman G K, Al-Khairallah T, St George-Hyslop P, Singleton A, Rogaeva |
| Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. Journal of medical genetics 2008 Jan 45 (1): 43-6. Lesage S, Lohmann E, Tison F, Durif F, Dürr A, Brice A, |
| [PINK1 IVS5-5 G>A polymorphism may contribute to the risk of late onset Parkinson disease in Chinese]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007 Jun 24 (3): 305-9. Wang Feng, Chen Biao, Feng Xiu-li, Zou Hai-qiang, Ma Jing-hong, Dong Xiu-min, Li Yong-j |
| PINK1 mutations and parkinsonism. Neurology 2008 Sep 71 (12): 896-902. Ishihara-Paul L, Hulihan M M, Kachergus J, Upmanyu R, Warren L, Amouri R, Elango R, Prinjha R K, Soto A, Kefi M, Zouari M, Sassi S B, Yahmed S B, El Euch-Fayeche G, Matthews P M, Middleton L T, Gibson R A, Hentati F, Farrer M |
| Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics 2008 Oct 9 (4): 263-9. Choi Jung Mi, Woo Myoung Soo, Ma Hyeo-Il, Kang Suk Yun, Sung Young-Hee, Yong Seok Woo, Chung Sun Ju, Kim Joong-Seok, Shin Hae-won, Lyoo Chul Hyoung, Lee Phil Hyu, Baik Jong Sam, Kim Sang-Jin, Park Mee Young, Sohn Young Ho, Kim Jin-Ho, Kim Jae Woo, Lee Myung Sik, Lee Myoung Chong, Kim Dong-Hyun, Kim Yun Joo |
| PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Human mutation 2008 Apr 29 (4): 565. Marongiu Roberta, Ferraris Alessandro, Ialongo Tàmara, Michiorri Silvia, Soleti Francesco, Ferrari Francesca, Elia Antonio E, Ghezzi Daniele, Albanese Alberto, Altavista Maria Concetta, Antonini Angelo, Barone Paolo, Brusa Livia, Cortelli Pietro, Martinelli Paolo, Pellecchia Maria Teresa, Pezzoli Gianni, Scaglione Cesa, Stanzione Paolo, Tinazzi Michele, Zecchinelli Anna, Zeviani Massimo, Cassetta Emanuele, Garavaglia Barbara, Dallapiccola Bruno, Bentivoglio Anna Rita, Valente Enza Maria, |
| Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype. Neurology 2009 Mar 72 (12): 1041-7. van Nuenen B F L, Weiss M M, Bloem B R, Reetz K, van Eimeren T, Lohmann K, Hagenah J, Pramstaller P P, Binkofski F, Klein C, Siebner H |
| Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC neurology 2008 8 (1): 1. Bras Jose, Guerreiro Rita, Ribeiro Maria, Morgadinho Ana, Januario Cristina, Dias Margarida, Calado Ana, Semedo Cristina, Oliveira Catarina, Hardy John, Singleton Andr |
| 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 |
| Genetic basis of Parkinson disease. Neurosurgical focus 2010 1 28 (1): E7. Xiromerisiou Georgia, Dardiotis Efthimios, Tsimourtou Vaïa, Kountra Persa Maria, Paterakis Konstantinos N, Kapsalaki Eftychia Z, Fountas Kostas N, Hadjigeorgiou Georgios |
| 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 |
| Impulsive-compulsive behaviors in parkin-associated Parkinson disease. Neurology 2016 Sep . Morgante Francesca, Fasano Alfonso, Ginevrino Monia, Petrucci Simona, Ricciardi Lucia, Bove Francesco, Criscuolo Chiara, Moccia Marcello, De Rosa Anna, Sorbera Chiara, Bentivoglio Anna Rita, Barone Paolo, De Michele Giuseppe, Pellecchia Maria Teresa, Valente Enza Mar |
| Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease. PLoS genetics 2017 Nov 13 (11): e1007045. Fernández Maria Victoria, Kim Jong Hun, Budde John P, Black Kathleen, Medvedeva Alexandra, Saef Ben, Deming Yuetiva, Del-Aguila Jorge, Ibañez Laura, Dube Umber, Harari Oscar, Norton Joanne, Chasse Rachel, Morris John C, Goate Alison, , , Cruchaga Carl |
| 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, |
| 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 |
| 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 |
| 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 |
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