Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 74 Records) |
| Query Trace: Disease and GAA[original query] |
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| Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots. Journal of clinical medicine 2021 9 10 (17): . Thuriot Fanny, Gravel Elaine, Hodson Katherine, Ganopolsky Jorge, Rakic Bojana, Waters Paula J, Gravel Serge, Lévesque Sébasti |
| Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population. Children (Basel, Switzerland) 2021 8 8 (7): . Park Kyung-S |
| Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner. International journal of molecular sciences 2021 7 22 (14): . Nethisinghe Suran, Kesavan Maheswaran, Ging Heather, Labrum Robyn, Polke James M, Islam Saiful, Garcia-Moreno Hector, Callaghan Martina F, Cavalcanti Francesca, Pook Mark A, Giunti Pao |
| Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants. Orphanet journal of rare diseases 2021 5 16 (1): 233. Hernández-Arévalo Paula, Santotoribio José D, Delarosa-Rodríguez Rocío, González-Meneses Antonio, García-Morillo Salvador, Jiménez-Arriscado Pilar, Guerrero Juan M, Macher Hada |
| Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. JIMD reports 2021 May 59 (1): 60-68. Limgala Renuka Pudi, Furtak Vyacheslav, Ivanova Margarita M, Changsila Erk, Wilks Floyd, Fidelia-Lambert Marie N, Goker-Alpan Ozlem, Gondré-Lewis Marjorie |
| Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database. Molecular genetics and metabolism reports 2021 Jun 27 100734. Park Kyung S |
| The impact of interrupting enzyme replacement therapy in late-onset Pompe disease. Journal of neurology 2021 2 268 (8): 2943-2950. Wenninger Stephan, Gutschmidt Kristina, Wirner Corinna, Einvag Krisztina, Montagnese Federica, Schoser Benedi |
| Auditory Phenotypic Variability in Friedreich's Ataxia Patients. Cerebellum (London, England) 2021 Feb . Koohi Nehzat, Thomas-Black Gilbert, Giunti Paola, Bamiou Doris-E |
| A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia. Frontiers in molecular biosciences 2022 9 9 933788. Rodden Layne N, Rummey Christian, Dong Yi Na, Lagedrost Sarah, Regner Sean, Brocht Alicia, Bushara Khalaf, Delatycki Martin B, Gomez Christopher M, Mathews Katherine, Murray Sarah, Perlman Susan, Ravina Bernard, Subramony S H, Wilmot George, Zesiewicz Theresa, Bolotta Alessandra, Domissy Alain, Jespersen Christine, Ji Baohu, Soragni Elisabetta, Gottesfeld Joel M, Lynch David |
| Muscle biochemical and pathological diagnosis in Pompe disease. Journal of neurology, neurosurgery, and psychiatry 2022 4 . Saito Yoshihiko, Nakamura Kimitoshi, Fukuda Tokiko, Sugie Hideo, Hayashi Shinichiro, Noguchi Satoru, Nishino Ichi |
| Prevalence and Genetic Analysis of ?-Thalassemia in the Dali Bai Autonomous Prefecture of the Yunnan Province, China. Genetic testing and molecular biomarkers 2022 3 26 (3): 152-156. Wang Xiao-Xuan, Ma Yu-Yuan, Zhang Wei, Liu Jia-Yao, Su Lan-Ying, Su Hui, Lin Xiao-Yan, Yuan Jin-Ying, Wang Yan, Liu Yun-Chun, Lai Ming-Mi |
| An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. American journal of human genetics 2022 12 110 (1): 105-119. Rafehi Haloom, Read Justin, Szmulewicz David J, Davies Kayli C, Snell Penny, Fearnley Liam G, Scott Liam, Thomsen Mirja, Gillies Greta, Pope Kate, Bennett Mark F, Munro Jacob E, Ngo Kathie J, Chen Luke, Wallis Mathew J, Butler Ernest G, Kumar Kishore R, Wu Kathy Hc, Tomlinson Susan E, Tisch Stephen, Malhotra Abhishek, Lee-Archer Matthew, Dolzhenko Egor, Eberle Michael A, Roberts Leslie J, Fogel Brent L, Brüggemann Norbert, Lohmann Katja, Delatycki Martin B, Bahlo Melanie, Lockhart Paul |
| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England journal of medicine 2022 12 388 (2): 128-141. Pellerin David, Danzi Matt C, Wilke Carlo, Renaud Mathilde, Fazal Sarah, Dicaire Marie-Josée, Scriba Carolin K, Ashton Catherine, Yanick Christopher, Beijer Danique, Rebelo Adriana, Rocca Clarissa, Jaunmuktane Zane, Sonnen Joshua A, Larivière Roxanne, Genís David, Molina Porcel Laura, Choquet Karine, Sakalla Rawan, Provost Sylvie, Robertson Rebecca, Allard-Chamard Xavier, Tétreault Martine, Reiling Sarah J, Nagy Sara, Nishadham Vikas, Purushottam Meera, Vengalil Seena, Bardhan Mainak, Nalini Atchayaram, Chen Zhongbo, Mathieu Jean, Massie Rami, Chalk Colin H, Lafontaine Anne-Louise, Evoy François, Rioux Marie-France, Ragoussis Jiannis, Boycott Kym M, Dubé Marie-Pierre, Duquette Antoine, Houlden Henry, Ravenscroft Gianina, Laing Nigel G, Lamont Phillipa J, Saporta Mario A, Schüle Rebecca, Schöls Ludger, La Piana Roberta, Synofzik Matthis, Zuchner Stephan, Brais Berna |
| Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study. Neurology. Genetics 2022 10 7 (6): e623. Wencel Marie, Shaibani Aziz, Goyal Namita A, Dimachkie Mazen M, Trivedi Jaya, Johnson Nicholas E, Gutmann Laurie, Wicklund Matthew P, Bandyopadhay Sankar, Genge Angela L, Freimer Miriam L, Goyal Neelam, Pestronk Alan, Florence Julaine, Karam Chafic, Ralph Jeffrey W, Rasheed Zinah, Hays Melissa, Hopkins Steve, Mozaffar Tahse |
| Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European journal of neurology 2023 8 . Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albajar, Elisabet Mondragón, Ana Vinagre, Roberto Fernández-Torrón, Fermín Moreno, Jon Equiza, David Campo-Caballero, Juan José Poza, Marta Ruibal, Alessandro Formica, Marie-Josée Dicaire, Matt C Danzi, Stephan Zuchner, Ioana Croitoru, Montserrat Ruiz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munain, Javier Ruiz-Martín |
| Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response. medRxiv : the preprint server for health sciences 2023 8 . David Pellerin, Felix Heindl, Carlo Wilke, Matt C Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M Boycott, Jens Claassen, Dan Rujescu, Annette M Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofz |
| Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. Journal of neurology, neurosurgery, and psychiatry 2023 7 . David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie-Josée Dicaire, Hector Garcia-Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Ludger Schöls, Michael Strupp, Andrea Cortese, Matthis Synofz |
| Genome-wide association study identifies novel susceptibilities to adult moyamoya disease. Journal of human genetics 2023 6 . Jin Pyeong Jeon, Eun Pyo Hong, Eun Jin Ha, Bong Jun Kim, Dong Hyuk Youn, Sungyoung Lee, Hee Chang Lee, Kang Min Kim, Sung Ho Lee, Won-Sang Cho, Hyun-Seung Kang, Jeong Eun K |
| [A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
| Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
| Tumor Necrosis Factor Alpha (TNF?) Gene Promoter Polymorphisms and Haplotypes are Associated with the Febrile Seizure (FS) and TNF? Serum Levels. Iranian journal of child neurology 2023 12 17 (4): 55-69. Bahar Ghanbarzadeh, Elnaz Dadashzadeh, Mojtaba Zare Ebrahimabad Zare Ebrahimabad, Mina Rahmati, Nasser Behnampour, Parniansadat Hosseini, Saeed Mohammadi, Seyed Ahmad Hossei |
| Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
| Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool. Advanced genetics (Hoboken, N.J.) 2023 1 3 (2): 2100078. Sharma Pooja, Sonakar Akhilesh Kumar, Tyagi Nishu, Suroliya Varun, Kumar Manish, Kutum Rintu, Asokchandran Vivekananda, Ambawat Sakshi, Shamim Uzma, Anand Avni, Ahmad Ishtaq, Shakya Sunil, Uppili Bharathram, Mathur Aradhana, Parveen Shaista, Jain Shweta, Singh Jyotsna, Seth Malika, Zahra Sana, Joshi Aditi, Goel Divya, Sahni Shweta, Kamai Asangla, Wadhwa Saruchi, Murali Aparna, Saifi Sheeba, Chowdhury Debashish, Pandey Sanjay, Anand Kuljeet Singh, Narasimhan Ranganathan Lakshmi, Laskar Sanghamitra, Kushwaha Suman, Kumar Mukesh, Shaji Cheruvallill Velayudhan, Srivastava Madakasira Vasantha Padma, Srivastava Achal K, Faruq Mohammed, |
| Coding Variants of the FMO3 Gene Are Associated with the Risk of Chronic Kidney Disease: A Case-Control Study. Reports of biochemistry & molecular biology 2023 1 11 (3): 430-439. Shorudi Dadi Ismail, Saravani Ramin, Khalili Tahereh, Sargazi Saman, Majidpour Mahdi, Sarhadi Mohammad, Mirinejad Shekoufeh, Shahraki Sheida, Alidadi A |
| Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study. International journal of molecular sciences 2024 9 25 (17): . Marta Moschetti, Alessia Lo Curto, Miriam Giacomarra, Daniele Francofonte, Carmela Zizzo, Elisa Messina, Giovanni Duro, Paolo Colom |
| 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 |
| Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. Neurogenetics 2024 7 . Tiyasha De, Pooja Sharma, Bharathram Upilli, A Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Far |
| Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease. Molecular genetics & genomic medicine 2024 7 12 (7): e2480. Valentina Martinez-Montoya, Luz María Sánchez-Sánchez, Roberto Sandoval-Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano-Valdez, Carmen Amor Ávila-Rejón, Pedro Alejandro Aguilar-Juárez, Martín Espino-Pluma, Cruz Antonio González-Santillanes, Rosa Isela Martínez-Segovia, Dorian Olmos-Morfin, Ofelia Padilla-De la Torre, Ishar Solís-Sánchez, Mónica Vázquez-Del Mercado Espinosa, Camilo Ernesto Villarroel-Cortés, Jesús Salvador Velarde-Félix, Jaime López-Valdez, Julio Olaiz-Urbina, Edgar Ricárdez-Marcial, Imelda Vergara-Sánchez, Pablo Radillo-Díaz, Ekaterina Kazakova, Beatriz De la Fuente-Cortez, Luz Del Carmen Marquez-Quiróz, Benjamín Torres-Octavo, Rubicel Diaz-Martin |
| Genome-wide association study of glucocerebrosidase activity modifiers. Research square 2024 6 . Emma N Somerville, Lynne Krohn, Konstanin Senkevich, Eric Yu, Jamil Ahmad, Farnaz Asayesh, Jennifer A Ruskey, Dan Speigelman, Stanley Fahn, Cheryl Waters, S Pablo Sardi, Roy N Alcalay, Ziv Gan- |
| Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis. Frontiers in genetics 2024 12 15 1477291. Jorge Alfredo Bevilacqua, Abdullah Mohammed Al-Salti, Abubaker Al Madani, Armando Alves da Fonseca, Hacer Durmus, Josiah Chai, Ali Alshehri, Márcia Gonçalves Ribeiro, Paulo Sgobbi, Sergey S Nikitin, Steven Vargas, Adriana Furtado, Nathan Thibault, Roberto Araujo, Nadia Da |
- Page last reviewed:Feb 1, 2024
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