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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Disease and MCOLN1[original query]
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
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
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
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