Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 117 Records) |
| Query Trace: Disease and GLA[original query] |
|---|
| Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic. Journal of clinical medicine 2021 8 10 (16): . Reková Petra, Dostálová Gabriela, Kemlink David, Paulasová Schwabová Jaroslava, Dubská Zora, Vaneckova Manuela, Mašek Martin, Kodet Ond?ej, Poup?tová Helena, Mazurová Stella, Rajdova Aneta, Vlckova Eva, Tábo?íková Alena, Fafejtová Št?pánka, Nevsimalova Miroslava, Linhart Aleš, Tomek Al |
| Prevalence and Clinical Characteristics of Fabry Disease in Chinese Patients With Hypertrophic Cardiomyopathy. The American journal of the medical sciences 2021 7 362 (3): 260-267. Xiao Yan, Sun Yang, Tian Tao, Wang Tian-Jie, Zhao Ran-Xu, Zhang Ying, Wang Lin-Ping, Liu Ya-Xin, Lu Chao-Xia, Zhou Xian-Liang, Yang Wei-Xi |
| High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME). Journal of clinical medicine 2021 May 10 (10): . Fan Yiting, Chan Tsz-Ngai, Chow Josie T Y, Kam Kevin K H, Chi Wai-Kin, Chan Joseph Y S, Fung Erik, Tong Mabel M P, Wong Jeffery K T, Choi Paul C L, Chan David K H, Sheng Bun, Lee Alex Pui-W |
| Frequency of Fabry disease in a juvenile idiopathic arthritis cohort. Pediatric rheumatology online journal 2021 6 19 (1): 91. Paim-Marques Luciana, Cavalcante Amanda Virginia, Verçosa Islane, Carneiro Paula, Souto-Maior Marcia, Marques Erlane, Appenzeller Simo |
| Nationwide screening for Fabry disease in unselected stroke patients. PloS one 2021 12 16 (12): e0260601. Tomek Aleš, Petra Reková, Paulasová Schwabová Jaroslava, Olšerová Anna, Škor?a Miroslav, Nevšímalová Miroslava, Šim?nek Libor, Herzig Roman, Fafejtová Št?pánka, Mikulenka Petr, Tábo?íková Alena, Neumann Ji?í, Brzezny Richard, Sobolová Helena, Bartoník Jan, Václavík Daniel, Vachová Marta, Bechyn? Karel, Havlíková Hana, Prax Tomáš, Ša?ák Daniel, ?erníková Irena, Onde?ková Iva, Procházka Petr, Rajner Jan, Škoda Miroslav, Novák Jan, Škoda Ond?ej, Bar Michal, Mikulík Robert, Dostálová Gabriela, Linhart Aleš, |
| Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. ESC heart failure 2022 9 9 (6): 4160-4166. Zemánek David, Januška Jaroslav, Hon?k Tomáš, ?urila Karol, Kubánek Miloš, Šindelá?ová Št?pánka, Zahálková Lucie, Klofá? Petr, Lašt?vková Eliška, Lichnerová Eva, Aiglová Renata, Lhotský Jan, Vondrák Ji?í, Dostálová Gabriela, Táborský Miloš, Kasper David, Linhart Al |
| Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA cardiology 2022 5 7 (7): 723-732. Patel Aniruddh P, Dron Jacqueline S, Wang Minxian, Pirruccello James P, Ng Kenney, Natarajan Pradeep, Lebo Matthew, Ellinor Patrick T, Aragam Krishna G, Khera Amit |
| Genetic Study of Cerebral Small Vessel Disease in Chinese Han Population. Frontiers in neurology 2022 4 13 829438. Wang Yunchao, Shi Changhe, Li Yusheng, Yu Wenkai, Wei Sen, Fan Yu, Mao Chengyuan, Yang Zhihua, Yu Lulu, Zhao Zichen, Li Shanshan, Gao Yuan, Xu Yumi |
| Prevalence of Fabry Disease among Patients with Parkinson's Disease. Parkinson's disease 2022 2022 1014950. Lackova Alexandra, Beetz Christian, Oppermann Sebastian, Bauer Peter, Pavelekova Petra, Lorincova Tatiana, Ostrozovicova Miriam, Kulcsarova Kristina, Cobejova Jana, Cobej Martin, Levicka Petra, Liesenerova Simona, Sendekova Daniela, Sukovska Viktoria, Gdovinova Zuzana, Han Vladimir, Rizig Mie, Houlden Henry, Skorvanek Mat |
| Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants. Journal of neurology 2022 11 . Härtl Johanna, Hartberger Julia, Wunderlich Silke, Cordts Isabell, Bafligil Cemsel, Sturm Marc, , Westphal Dominik, Haack Tobias, Hemmer Bernhard, Ikenberg Benno David, Deschauer Marc |
| Evaluation of demographic, clinical, and aetiological data of patients admitted to cardiology clinics and diagnosed with left ventricular hypertrophy in Turkish population (LVH-TR). Acta cardiologica 2022 10 77 (9): 836-845. Kis Mehmet, Dogan Yasemin, Yildirim Abdullah, Güzel Tuncay, Bekar Lutfu, Akhan Onur, Dogdus Mustafa, Harbal?o?lu Hazar, Karabulut Dilay, Soydan Elton, Zoghi Mehdi, Ergene Oktay, |
| Phenotypes of undiagnosed adults with actionable OTC and GLA variants. HGG advances 2023 8 4 (4): 100226. Jessica I Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, , , Robert C Green, Nina B Go |
| The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
| Population Frequency of Undiagnosed Fabry Disease in the General Population. Kidney international reports 2023 7 8 (7): 1373-1379. Amalia Kermond-Marino, Annie Weng, Selina Kai Xi Zhang, Zac Tran, Mary Huang, Judy Savi |
| Brain MRI correlations with disease burden and biomarkers in Fabry disease. Journal of neurology 2023 6 . Yawen Zhao, Ying Zhu, Fan Li, Yunchuang Sun, Wei Ma, Yuan Wu, Wei Zhang, Zhaoxia Wang, Yun Yuan, Yining Hua |
| 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 |
| Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families. Metabolic brain disease 2023 4 . Vittoria Cianci, Angelo Pascarella, Lucia Manzo, Sara Gasparini, Oreste Marsico, Anna Mammì, Carmelo Massimiliano Rao, Claudio Franzutti, Umberto Aguglia, Edoardo Ferlaz |
| Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis). The international journal of cardiovascular imaging 2023 3 . Güzel Tuncay, Ça?lar Fatma Nihan Turhan, Ekici Berkay, K?? Mehmet, Özta? Selvi, Öz Ahmet, Gök Gülay, Kolak Zeynep, Ak?it Ercan, Sar?ca Süleyman An?l, Bayrak Murat, Birdal O?uzhan, U?uz Berat, Gitmez Mesut, Berk Gül ?layda, O?uz Mustafa, Çal?k Ali Nazmi, K?l?ç Salih, Zoghi Mehdi, Ergene As?m Okt |
| Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo. Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia 2023 2 . Paz Osvaldo Theodoro da, Lacerda Rosiane Cássia Teixeira, de Andrade Luis Gustavo Model |
| Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants. Genes 2023 11 14 (11): . Kirill Savostyanov, Alexander Pushkov, Ilya Zhanin, Natalya Mazanova, Alexander Pakhomov, Elena Trufanova, Alina Alexeeva, Dmitry Sladkov, Ludmila Kuzenkova, Aliy Asanov, Andrey Fisen |
| Matrix Gla Protein and Nitric Oxide Synthase-3 Genetic Variants in Chronic Kidney Disease and Their Relation with Cardiovascular Risk. International journal of nephrology 2024 9 2024 3850055. G Priyadarshini, Sreejith Parameswaran, Jayaprakash Sahoo, Sandhiya Selvarajan, Ananthakrishnan Ramesh, Medha Rajap |
| Prevalence of Fabry Disease in Patients on Dialysis in France. International journal of molecular sciences 2024 9 25 (18): . Florence Sens, Laure Guittard, Bertrand Knebelmann, Olivier Moranne, Gabriel Choukroun, Valérie de Précigout, Cécile Couchoud, Isabelle Deleruyelle, Léa Lancelot, Liên Tran Thi Phuong, Thomas Ghafari, Fabrydial Study Group, Laurent Juillard, Dominique P Germa |
| The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy. International journal of cardiology 2024 9 417 132542. Albert Hagège, Tania Puscas, Mohamed El Hachmi, Alessandro Parodi, Anne Bacher, Benoit Funalot, Karim Wahbi, Xavier Jeunemaître, Thibaud Damy, Clarisse Billon, |
| Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies. European journal of pain (London, England) 2024 8 . Chloé Angelini, Claire Bar, Marie Pierre Baudier, Patricia Fergelot, Gwenaëlle Lancelot, Caroline Rooryck, Dominique P Germain, Firas Jabbour, Anne-Sophie Blanchet, Alexandre Cauchie, Elisabeth Sarrazin, Rémi Bellance, Jean-Pascal Lefaucheur, Julie Bismuth, Stéphanie Ranque-Garnier, Virginie Corand, Isabelle Coupry, Cyril Goizet, |
| The Asian Fabry Cardiomyopathy High-Risk Screening Study 2 (ASIAN-FAME-2): Prevalence of Fabry Disease in Patients with Left Ventricular Hypertrophy. Journal of clinical medicine 2024 7 13 (13): . Sophia Po-Yee Leung, Scott Dougherty, Xiao-Yu Zhang, Kevin K H Kam, Wai-Kin Chi, Joseph Y S Chan, Erik Fung, Jeffrey K T Wong, Paul C L Choi, David K H Chan, Bun Sheng, Alex Pui-Wai L |
| Fabry disease in familial Mediterranean fever according to the severity of the disease. Reumatologia clinica 2024 11 20 (9): 484-489. Sadettin Uslu, Gökhan Kabadayi, Pelin Teke K?sa, Tuba Yüce Inel, Zümrüt Arslan, Nur Arslan, Servet Akar, Fatos Onen, Ismail Sa |
| FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data. Journal of rare diseases (Berlin, Germany) 2024 1 3 (1): 2. Caryn J Lobel, Dawn A Laney, Jingjing Yang, David Jacob, Amy Rickheim, Carol Z Ogg, Diana Clynes, Jessica Dron |
| Matrix Gla protein polymorphism rs1800802 is associated with atheroma plaque progression and with cardiovascular events in a chronic kidney disease cohort. Clinical kidney journal 2024 1 17 (1): sfad257. Serafí Cambray, Marcelino Bermúdez-López, Alicia Garcia-Carrasco, Jose M Valdivielso, |
| 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 |
| Frequency of Fabry disease in chronic kidney disease patients including patients on renal replacement therapy in Korea. Kidney research and clinical practice 2024 1 . Eunjung Cho, Jung Tak Park, Tae-Hyun Yoo, Soo Wan Kim, Cheol Whee Park, Seung Seok Han, Yeong Hoon Kim, Young Joo Kw |
- Page last reviewed:Feb 1, 2024
- Content source: