Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Disease and CAPN1[original query] |
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| The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. Neurogenetics 2018 4 19 (2): 111-121. Travaglini Lorena, Aiello Chiara, Stregapede Fabrizia, D'Amico Adele, Alesi Viola, Ciolfi Andrea, Bruselles Alessandro, Catteruccia Michela, Pizzi Simone, Zanni Ginevra, Loddo Sara, Barresi Sabina, Vasco Gessica, Tartaglia Marco, Bertini Enrico, Nicita Frances |
| Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia. Annals of clinical and translational neurology 2020 8 7 (10): 1862-1869. Lai Lu-Lu, Chen Yi-Jun, Li Yun-Lu, Lin Xiao-Hong, Wang Meng-Wen, Dong En-Lin, Wang Ning, Chen Wan-Jin, Lin Xia |
| 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 |
| Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases. Journal of the neurological sciences 2020 Jan 411 116691. Xia Zheng-Cai, Liu Zhen-Hua, Zhou Xiao-Xia, Liu Zhen, Wang Jun-Ling, Hu Zheng-Mao, Tan Jie-Qiong, Shen Lu, Jiang Hong, Tang Bei-Sha, Lei Li-Fa |
| Genetic variants in histone modification regions are associated with the prognosis of lung adenocarcinoma. Scientific reports 2021 Nov 11 (1): 21520. Kang Hyo-Gyoung, Lee Yong Hoon, Lee Shin Yup, Choi Jin Eun, Do Sook Kyung, Hong Mi Jeong, Lee Jang Hyuck, Jeong Ji Yun, Do Young Woo, Lee Eung Bae, Shin Kyung Min, Lee Won Kee, Choi Sun Ha, Seo Hye Won, Yoo Seung Soo, Lee Jaehee, Cha Seung Ick, Kim Chang Ho, Cho Sukki, Jheon Sanghoon, Park Jae Yo |
| Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims. Journal of cardiovascular translational research 2024 6 . Sini Skarp, Anne Doedens, Lauri Holmström, Valerio Izzi, Samu Saarimäki, Eeva Sliz, Johannes Kettunen, Lasse Pakanen, Risto Kerkelä, Katri Pylkäs, Heikki V Huikuri, Robert J Myerburg, Juhani Juntti |
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