Human Genome Epidemiology Literature Finder
Records 1 - 29 (of 29 Records) |
Query Trace: ARSA[original query] |
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Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. Molecular genetics and metabolism 2005 Nov 86 (3): 353-9. Lugowska Agnieszka, Amaral Olga, Berger Johannes, Berna Linda, Bosshard Nils U, Chabas Amparo, Fensom Anthony, Gieselmann Volkmar, Gorovenko Natalia G, Lissens Willy, Mansson Jan-Eric, Marcao Ana, Michelakakis Helen, Bernheimer Hanno, Ol'khovych Natalia V, Regis Stefano, Sinke Richard, Tylki-Szymanska Anna, Czartoryska Barba |
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? PloS one 2011 6 (6): 6. Lugowska A, Poni?ska J, Krajewski P, Broda G, P?oski R |
Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy. Gene 2013 Sep 526 (2): 176-81. ?ugowska Agnieszka, Musielak Ma?gorzata, Jamroz Ewa, Pyrkosz Antoni, Kmie? Tomasz, Tylki-Szyma?ska Anna, Bednarska-Makaruk Ma?gorza |
Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy. Annals of laboratory medicine 2015 Jul 35 (4): 458-62. Han Minje, Jun Sun-Hee, Lee Yun-Jin, Eun Baik-Lin, Lee Seung Jun, Seong Moon-Woo, Park Sung Sup, Song Sang Hoon, Park Hyung-Doo, Song Jungh |
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. Gene 2015 Aug 568 (1): 69-75. Virgens M Y F, Siebert M, Bock H, Burin M, Giugliani R, Saraiva-Pereira M |
Chromosomal microarray analysis in fetuses with aberrant right subclavian artery. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Apr . Maya Idit, Kahana Sarit, Yeshaya Josepha, Tenne Tamar, Yacobson Shiri, Agmon-Fishman Ifaat, Cohen-Vig Lital, Levi Alex, Reinstein Eyal, Basel-Vanagaite Lina, Sharony Reuv |
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians. Scientific reports 2018 7 8 (1): 10912. Tang Dave, Fakiola Michaela, Syn Genevieve, Anderson Denise, Cordell Heather J, Scaman Elizabeth S H, Davis Elizabeth, Miles Simon J, McLeay Toby, Jamieson Sarra E, Lassmann Timo, Blackwell Jenefer |
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. Dementia and geriatric cognitive disorders 2018 Feb 45 (1): 1-17. Blue Elizabeth E, Bis Joshua C, Dorschner Michael O, Tsuang Debby W, Barral Sandra M, Beecham Gary, Below Jennifer E, Bush William S, Butkiewicz Mariusz, Cruchaga Carlos, DeStefano Anita, Farrer Lindsay A, Goate Alison, Haines Jonathan, Jaworski Jim, Jun Gyungah, Kunkle Brian, Kuzma Amanda, Lee Jenny J, Lunetta Kathryn L, Ma Yiyi, Martin Eden, Naj Adam, Nato Alejandro Q, Navas Patrick, Nguyen Hiep, Reitz Christiane, Reyes Dolly, Salerno William, Schellenberg Gerard D, Seshadri Sudha, Sohi Harkirat, Thornton Timothy A, Valadares Otto, van Duijn Cornelia, Vardarajan Badri N, Wang Li-San, Boerwinkle Eric, Dupuis Josée, Pericak-Vance Margaret A, Mayeux Richard, Wijsman Ellen M, |
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
Circulation 2019 Jan 139 (5): 620-635. Sabater-Lleal Maria, Huffman Jennifer E, de Vries Paul S, Marten Jonathan, Mastrangelo Michael A, Song Ci, Pankratz Nathan, Ward-Caviness Cavin K, Yanek Lisa R, Trompet Stella, Delgado Graciela E, Guo Xiuqing, Bartz Traci M, Martinez-Perez Angel, Germain Marine, de Haan Hugoline G, Ozel Ayse B, Polasek Ozren, Smith Albert V, Eicher John D, Reiner Alex P, Tang Weihong, Davies Neil M, Stott David J, Rotter Jerome I, Tofler Geoffrey H, Boerwinkle Eric, de Maat Moniek P M, Kleber Marcus E, Welsh Paul, Brody Jennifer A, Chen Ming-Huei, Vaidya Dhananjay, Soria José Manuel, Suchon Pierre, van Hylckama Vlieg Astrid, Desch Karl C, Kolcic Ivana, Joshi Peter K, Launer Lenore J, Harris Tamara B, Campbell Harry, Rudan Igor, Becker Diane M, Li Jun Z, Rivadeneira Fernando, Uitterlinden André G, Hofman Albert, Franco Oscar H, Cushman Mary, Psaty Bruce M, Morange Pierre-Emmanuel, McKnight Barbara, Chong Michael R, Fernandez-Cadenas Israel, Rosand Jonathan, Lindgren Arne, , Gudnason Vilmundur, Wilson James F, Hayward Caroline, Ginsburg David, Fornage Myriam, Rosendaal Frits R, Souto Juan Carlos, Becker Lewis C, Jenny Nancy S, März Winfried, Jukema J Wouter, Dehghan Abbas, Trégouët David-Alexandre, Morrison Alanna C, Johnson Andrew D, O'Donnell Christopher J, Strachan David P, Lowenstein Charles J, Smith Nicholas |
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. Cold Spring Harbor molecular case studies 2019 12 5 (6): . Cochran J Nicholas, McKinley Emily C, Cochran Meagan, Amaral Michelle D, Moyers Bryan A, Lasseigne Brittany N, Gray David E, Lawlor James M J, Prokop Jeremy W, Geier Ethan G, Holt James M, Thompson Michelle L, Newberry J Scott, Yokoyama Jennifer S, Worthey Elizabeth A, Geldmacher David S, Love Marissa Natelson, Cooper Gregory M, Myers Richard M, Roberson Erik |
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD). BMC research notes 2019 11 12 (1): 726. Hettiarachchi D, Dissanayake V H |
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy. Journal of human genetics 2019 1 64 (4): 323-331. Narayanan Dhanya Lakshmi, Matta Divya, Gupta Neerja, Kabra Madhulika, Ranganath Prajnya, Aggarwal Shagun, Phadke Shubha R, Datar Chaitanya, Gowrishankar Kalpana, Kamate Mahesh, Jain Jamal Mohammed Nurul, Dalal Ashw |
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients. Neurogenetics 2020 7 21 (4): 289-299. Beerepoot Shanice, van Dooren Silvy J M, Salomons Gajja S, Boelens Jaap Jan, Jacobs Edwin H, van der Knaap Marjo S, van Kuilenburg André B P, Wolf Nicole |
Genetic analysis of arylsulfatase A (ARSA) in Chinese patients with Parkinson's disease. Neuroscience letters 2020 May 135094. Ruan Yang, Zheng Ran, Lin Zhi-Hao, Gao Ting, Xue Nai-Jia, Cao Jin, Tian Jun, Zhang Bao-Rong, Pu Jia- |
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis. Molecular genetics & genomic medicine 2020 5 8 (8): e1305. Juárez-Osuna Jesús A, Mendoza-Ruvalcaba Sandra C, Porras-Dorantes Angela, Da Silva-José Thiago D, García-Ortiz José |
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives. Molecular genetics and metabolism reports 2020 12 25 100688. Pekgül Faruk, Ero?lu-Ertu?rul Nesibe Gevher, Bekircan-Kurt Can Ebru, Erdem-Ozdamar Sevim, Çetinkaya Arda, Tan Ersin, Konu?kan Bahad?r, Karaa?ao?lu Ergun, Topçu Meral, Akarsu Nurten Ay?e, Oguz Kader K, Anlar Banu, Özkara Hatice Asum |
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum. Journal of molecular neuroscience : MN 2020 11 71 (5): 1112-1130. Amr Khalda, Fateen Ekram, Mansour Lobna, Tosson Angie Ms, Zaki Maha S, Salam Ghada Mh Abdel, Mohamed Ahmed Nabil, El-Bassyouni Hala |
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Human molecular genetics 2021 9 31 (4): 625-637. Levy Tess, Foss-Feig Jennifer H, Betancur Catalina, Siper Paige M, Trelles-Thorne Maria Del Pilar, Halpern Danielle, Frank Yitzchak, Lozano Reymundo, Layton Christina, Britvan Bari, Bernstein Jonathan A, Buxbaum Joseph D, Berry-Kravis Elizabeth, Powell Craig M, Srivastava Siddharth, Sahin Mustafa, Soorya Latha, Thurm Audrey, Kolevzon Alexander, |
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. Journal of molecular neuroscience : MN 2021 9 72 (3): 555-564. Abtahi Rezvan, Karimzadeh Parvaneh, Rezayi Alireza, Salehpour Shadab, Akbarzadeh Diba, Tonekaboni Seyed Hassan, Emameh Reza Zolfaghari, Houshmand Masso |
Evaluating the role of ARSA in Chinese patients with Parkinson's disease. Neurobiology of aging 2021 Aug . Pan Hong-Xu, Wang Yi-Ge, Zhao Yu-Wen, Zeng Qian, Wang Zheng, Fang Zheng-Huan, Zhang Yi, Zhou Xun, He Run-Cheng, Xu Qian, Sun Qi-Ying, Tan Jie-Qiong, Yan Xin-Xiang, Li Jin-Chen, Tang Bei-Sha, Guo Ji-Fe |
Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2021 3 73 (10): 1860-1870. Jamieson Sarra E, Fakiola Michaela, Tang Dave, Scaman Elizabeth, Syn Genevieve, Francis Richard W, Coates Harvey L, Anderson Denise, Lassmann Timo, Cordell Heather J, Blackwell Jenefer |
Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity. Clinical neurology and neurosurgery 2020 Dec 201 106448. Mahdieh Nejat, Sharifi Ameneh, Rabbani Ali, Ashrafi Mahmoudreza, Tavasoli Ali Reza, Badv Reza Shervin, Bonkowsky Joshua L, Rabbani Bahar |
Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery. Scientific reports 2022 Sep 12 (1): 15899. Sun Hairui, Han Lu, Hao Xiaoyan, Chen Zhaoyi, Wang Jingyi, Yi Tong, Zhou Xiaoxue, Gu Xiaoyan, Han Jiancheng, Zhang Ye, Sun Lin, Liu Xiaowei, Zhang Siyao, Guo Yong, Zhang Hongjia, He Yih |
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature. JIMD reports 2022 7 63 (4): 292-302. Laugwitz Lucia, Santhanakumaran Vidiyaah, Spieker Mareike, Boehringer Judith, Bender Benjamin, Gieselmann Volkmar, Beck-Woedl Stefanie, Bruchelt Gernot, Harzer Klaus, Kraegeloh-Mann Ingeborg, Groeschel Samu |
Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study. Frontiers in pediatrics 2022 6 10 895562. Cai Meiying, Lin Na, Fan Xiangqun, Chen Xuemei, Xu Shiyi, Fu Xianguo, Xu Liangpu, Huang Hailo |
Association of Rare Variants in ARSA with Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society 2023 6 . Konstantin Senkevich, Mariia Beletskaia, Aliza Dworkind, Eric Yu, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin-Baer, Ilya Nagornov, Alexandr Tyurin, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Jean-François Trempe, Ekaterina Zakharova, Roy N Alcalay, Sofya Pchelina, Ziv Gan- |
Association of rare variants in ARSA with Parkinson's disease. medRxiv : the preprint server for health sciences 2023 3 . Senkevich Konstantin, Beletskaia Mariia, Dworkind Aliza, Yu Eric, Ahmad Jamil, Ruskey Jennifer A, Asayesh Farnaz, Spiegelman Dan, Fahn Stanley, Waters Cheryl, Monchi Oury, Dauvilliers Yves, Dupré Nicolas, Greenbaum Lior, Hassin-Baer Sharon, Nagornov Ilya, Tyurin Alexandr, Miliukhina Irina, Timofeeva Alla, Emelyanov Anton, Zakharova Ekaterina, Alcalay Roy N, Pchelina Sofya, Gan-Or Z |
A Phase I Study of the CDK4/6 Inhibitor, Palbociclib in Combination with Cetuximab and Radiotherapy (IMRT) for Locally Advanced Head and Neck Squamous Cell Carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 11 . Nuttapong Ngamphaiboon, Poompis Pattaranutaporn, Somthawin Lukerak, Teerada Siripoon, Artit Jinawath, Lalida Arsa, Prapimporn Ch Shantavasinkul, Naphat Taonam, Narumol Trachu, Natini Jinawath, Arpakorn Kositwattanarerk, Thiparom Sananmuang, Chuleeporn Jiarpinitn |
Whole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes. Molecular psychiatry 2023 10 . Seonggyun Han, Emily DiBlasi, Eric T Monson, Andrey Shabalin, Elliott Ferris, Danli Chen, Alison Fraser, Zhe Yu, Michael Staley, W Brandon Callor, Erik D Christensen, David K Crockett, Qingqin S Li, Virginia Willour, Amanda V Bakian, Brooks Keeshin, Anna R Docherty, Karen Eilbeck, Hilary Co |
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