Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: DYNC1H1[original query] |
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No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2006 Mar 7 (1): 46-56. Shah Paresh R, Ahmad-Annuar Azlina, Ahmadi Kourosh R, Russ Carsten, Sapp Peter C, Horvitz H Robert, Brown Robert H, Goldstein David B, Fisher Elizabeth M |
Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies. Clinical genetics 2015 Dec . Tey Shelisa, Ahmad-Annuar Azlina, Drew Alexander P, Shahrizaila Nortina, Nicholson Garth A, Kennerson Marina |
A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract. Meta gene 2016 Sep 9 124-7. Hertecant Jozef, Komara Makanko, Nagi Aslam, Suleiman Jehan, Al-Gazali Lihadh, Ali Bassam |
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PloS one 2017 8 12 (8): e0181791. Hayashi Shin, Uehara Daniela Tiaki, Tanimoto Kousuke, Mizuno Seiji, Chinen Yasutsugu, Fukumura Shinobu, Takanashi Jun-Ichi, Osaka Hitoshi, Okamoto Nobuhiko, Inazawa Joh |
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Apr . Di Donato Nataliya, Timms Andrew E, Aldinger Kimberly A, Mirzaa Ghayda M, Bennett James T, Collins Sarah, Olds Carissa, Mei Davide, Chiari Sara, Carvill Gemma, Myers Candace T, Rivière Jean-Baptiste, Zaki Maha S, , Gleeson Joseph G, Rump Andreas, Conti Valerio, Parrini Elena, Ross M Elizabeth, Ledbetter David H, Guerrini Renzo, Dobyns William |
Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China. Pediatrics and neonatology 2018 Mar . Wang Rongyue, Lei Tingying, Fu Fang, Li Ru, Jing Xiangyi, Yang Xin, Liu Juan, Li Dongzhi, Liao C |
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. Seizure 2020 6 80 145-152. Accogli Andrea, Severino Mariasavina, Riva Antonella, Madia Francesca, Balagura Ganna, Iacomino Michele, Carlini Barbara, Baldassari Simona, Giacomini Thea, Croci Carolina, Pisciotta Livia, Messana Tullio, Boni Antonella, Russo Angelo, Bilo Leonilda, Tonziello Rosa, Coppola Antonietta, Filla Alessandro, Mecarelli Oriano, Casalone Rosario, Pisani Francesco, Falsaperla Raffaele, Marino Silvia, Parisi Pasquale, Ferretti Alessandro, Elia Maurizio, Luchetti Anna, Milani Donatella, Vanadia Francesca, Silvestri Laura, Rebessi Erika, Parente Eliana, Vatti Giampaolo, Mancardi Maria Margherita, Nobili Lino, Capra Valeria, Salpietro Vincenzo, Striano Pasquale, Zara Federi |
Association of DYNC1H1 gene SNP/CNV with disease susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients. Journal of clinical laboratory analysis 2021 Jul e23892. Huang Shunwei, Zhang Tingyu, Wang Yuhua, Wang Linlin, Yan Ziye, Teng Ying, Li Zhen, Lou Qiuyue, Liu Shuang, Cai Jing, Chen Yangfan, Li Mu, Huang Hailiang, Xu Zhouzhou, Zou Yanfe |
Diverse genetic causes of polymicrogyria with epilepsy. Epilepsia 2021 Apr 62 (4): 973-983. Authors are not available |
DYNC1H1-related epilepsy: Genotype-phenotype correlation. Developmental medicine and child neurology 2022 9 . Liu Wenwei, Cheng Miaomiao, Zhu Ying, Chen Yi, Yang Ying, Chen Hui, Niu Xueyang, Tian Xiaojuan, Yang Xiaoling, Zhang Yueh |
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. bioRxiv : the preprint server for biology 2023 12 . Zinan Zhou, Junho Kim, August Yue Huang, Matthew Nolan, Junseok Park, Ryan Doan, Taehwan Shin, Michael B Miller, Brian Chhouk, Katherine Morillo, Rebecca C Yeh, Connor Kenny, Jennifer E Neil, Chao-Zong Lee, Takuya Ohkubo, John Ravits, Olaf Ansorge, Lyle W Ostrow, Clotilde Lagier-Tourenne, Eunjung Alice Lee, Christopher A Wal |
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- Page last updated:Apr 16, 2024
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