Human Genome Epidemiology Literature Finder
|
Records 1 - 19 (of 19 Records) |
| Query Trace: Disease and ARSA[original query] |
|---|
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry. American journal of medical genetics. Part A 2024 10 e63919. Rachel Rabin, Yoel Hirsch, Kevin T A Booth, Patricia L Hall, Naomi Yachelevich, Pramod K Mistry, Josef Ekstein, John Papp |
- Page last reviewed:Feb 1, 2024
- Content source: