Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: MCOLN1[original query] |
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Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Human mutation 2001 May 17 (5): 397-402. Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach |
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. American journal of human genetics 2002 Apr 70 (4): 1023-7. Edelmann Lisa, Dong Jianli, Desnick Robert J, Kornreich Ru |
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. Human mutation 2005 Dec 26 (6): 591. Bach Gideon, Webb Michael B T, Bargal Ruth, Zeigler Marcia, Ekstein Jose |
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. The Journal of molecular diagnostics : JMD 2006 May 8 (2): 282-7. Hantash Feras M, Olson Susan C, Anderson Ben, Buller Arlene, Chen Rebecca, Crossly Beryl, Sun Weimin, Strom Charles |
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2013 Apr 80 (17): 1606-10. Gan-Or Ziv, Ozelius Laurie J, Bar-Shira Anat, Saunders-Pullman Rachel, Mirelman Anat, Kornreich Ruth, Gana-Weisz Mali, Raymond Deborah, Rozenkrantz Liron, Deik Andres, Gurevich Tanya, Gross Susan J, Schreiber-Agus Nicole, Giladi Nir, Bressman Susan B, Orr-Urtreger A |
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. PloS one 2015 10 (5): e0125204. Clark Lorraine N, Chan Robin, Cheng Rong, Liu Xinmin, Park Naeun, Parmalee Nancy, Kisselev Sergey, Cortes Etty, Torres Paola A, Pastores Gregory M, Vonsattel Jean P, Alcalay Roy, Marder Karen, Honig Lawrence L, Fahn Stanley, Mayeux Richard, Shelanski Michael, Di Paolo Gilbert, Lee Joseph |
Genome-wide scan identifies opioid overdose risk locus close to MCOLN1.
Addiction biology 2019 Jul e12811. Cheng Zhongshan, Yang Bao-Zhu, Zhou Hang, Nunez Yaira, Kranzler Henry R, Gelernter Jo |
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly. Molecular genetics & genomic medicine 2019 10 8 (1): e992. Meloche Jolyane, Brunet Vanessa, Gagnon Pierre-Alexandre, Lavoie Marie-Ève, Bouchard Jean-Benoît, Nadaf Javad, Majewski Jacek, Morin Charles, Laprise Catheri |
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping. European journal of medical genetics 2020 4 63 (7): 103927. Pode-Shakked Ben, Finezilber Yael, Levi Yonit, Liber Shiri, Fleischer Nicole, Greenbaum Lior, Raas-Rothschild Anni |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort. Journal of Parkinson's disease 2021 7 11 (4): 1845-1855. Chen Yong-Ping, Gu Xiao-Jing, Song Wei, Hou Yan-Bing, Ou Ru-Wei, Zhang Ling-Yu, Liu Kun-Cheng, Su Wei-Ming, Cao Bei, Wei Qian-Qian, Zhao Bi, Wu Ying, Shang Hui-Fa |
TRP Family Genes Are Differently Expressed and Correlated with Immune Response in Glioma. Brain sciences 2022 5 12 (5): . Fang Chaoyou, Xu Houshi, Liu Yibo, Huang Chenkai, Wang Xiaoyu, Zhang Zeyu, Xu Yuanzhi, Yuan Ling, Zhang Anke, Shao Anwen, Lou Meiqi |
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- Page last updated:Apr 22, 2024
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