Human Genome Epidemiology Literature Finder
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Records 1 - 17 (of 17 Records) |
| Query Trace: Disease and NEFL[original query] |
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| Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. Journal of human genetics 2011 May 56 (5): 364-8. Abe Akiko, Numakura Chikahiko, Kijima Kazuki, Hayashi Makiko, Hashimoto Taeko, Hayasaka Kiyos |
| Common genetic variants in NEFL influence gene expression and neuroblastoma risk. Cancer research 2014 Dec 74 (23): 6913-24. Capasso Mario, Diskin Sharon, Cimmino Flora, Acierno Giovanni, Totaro Francesca, Petrosino Giuseppe, Pezone Lucia, Diamond Maura, McDaniel Lee, Hakonarson Hakon, Iolascon Achille, Devoto Marcella, Maris John |
| ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain : a journal of neurology 2015 Nov . Montecchiani Celeste, Pedace Lucia, Lo Giudice Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso José L, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, St George-Hyslop Peter H, Barsottini Orlando G P, Kawarai Toshitaka, Orlacchio Anton |
| The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Molecular genetics & genomic medicine 2014 Nov 2 (6): 522-9. DiVincenzo Christina, Elzinga Christopher D, Medeiros Adam C, Karbassi Izabela, Jones Jeremiah R, Evans Matthew C, Braastad Corey D, Bishop Crystal M, Jaremko Malgorzata, Wang Zhenyuan, Liaquat Khalida, Hoffman Carol A, York Michelle D, Batish Sat D, Lupski James R, Higgins Joseph |
| Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. Journal of the peripheral nervous system : JPNS 2016 Nov . Sun Bo, Chen Zhaohui, Ling Li, Yang Fei, Huang Xushe |
| Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth. Chinese medical journal 2018 Jan 131 (2): 151-155. Zhao Xin, Jiang Ming-Ming, Yan Yi-Zhou, Liu Lei, Xie Yong-Zhi, Li Xiao-Bo, Hu Zheng-Mao, Zi Xiao-Hong, Xia Kun, Tang Bei-Sha, Zhang Ru- |
| Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. Neuromolecular medicine 2019 8 22 (1): 68-72. Deng Sheng, Feely Shawna M E, Shi Yong, Zhai Hong, Zhan Luna, Siddique Teepu, Deng Han-Xiang, Shy Michael |
| Proteomics in cerebrospinal fluid and spinal cord suggests UCHL1, MAP2 and GPNMB as biomarkers and underpins importance of transcriptional pathways in amyotrophic lateral sclerosis. Acta neuropathologica 2019 11 139 (1): 119-134. Oeckl Patrick, Weydt Patrick, Thal Dietmar R, Weishaupt Jochen H, Ludolph Albert C, Otto Mark |
| Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. Human genomics 2020 Sep 14 (1): 28. Tsang Mandy H Y, Kwong Anna K Y, Chan Kate L S, Fung Jasmine L F, Yu Mullin H C, Mak Christopher C Y, Yeung Kit-San, Rodenburg Richard J T, Smeitink Jan A M, Chan Rachel, Tsoi Thomas, Hui Joannie, Wong Shelia S N, Tai Shuk-Mui, Chan Victor C M, Ma Che-Kwan, Fung Sharon T H, Wu Shun-Ping, Chak W K, Chung Brian H Y, Fung Cheuk-Wi |
| Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects. BMC medical genomics 2021 Sep 14 (1): 222. Lin Feng, Lin Wanhui, Zhu Chaofeng, Lin Jilan, Zhu Junge, Li Xu-Ying, Wang Zhanjun, Wang Chaodong, Huang Huap |
| Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center. Journal of the peripheral nervous system : JPNS 2021 Jun . Uchôa Cavalcanti Eduardo Boiteux, Santos Savana Camilla de Lima, Martins Carlos Eduardo Speck, de Carvalho Daniel Rocha, Rizzo Isabela Maria Pinto de Oliveira, Freitas Maria Cristina Del Negro Barroso, da Silva Freitas Denise, de Souza Francineide Sadala, Junior Altamir Monteiro, do Nascimento Osvaldo José Morei |
| Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures. Journal of inherited metabolic disease 2021 2 44 (4): 1013-1020. Abdennadher Myriam, Inati Sara, Soldatos Ariane, Norato Gina, Baker Eva H, Thurm Audrey, Bartolini Luca, Masvekar Ruturaj, Theodore William, Bielekova Bibiana, Porter Forbes D, Dang Do An |
| Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis. Journal of clinical medicine 2021 11 10 (21): . Hwang Sungeun, Park Chang-Hyun, Kim Regina Eun-Young, Kim Hyeon Jin, Choi Yun Seo, Kim Sol-Ah, Yoo Jeong Hyun, Chung Ki Wha, Choi Byung-Ok, Lee Hyang Wo |
| Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease. Brain and behavior 2022 8 12 (9): e2744. Nguyen-Le Trung-Hieu, Do Minh Duc, Le Linh Hoang Gia, Nhat Quynh Nhu Nguyen, Hoang Nghia Trong Tien, Van Le Tuan, Mai Thao Phuo |
| Clinical and genetic characterization of NEFL-related neuropathy in Taiwan. Journal of the Formosan Medical Association = Taiwan yi zhi 2022 8 122 (2): 132-138. Chao Hua-Chuan, Hsiao Cheng-Tsung, Lai Kuan-Lin, Tsai Yu-Shuen, Lin Kon-Ping, Liao Yi-Chu, Lee Yi-Chu |
| Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand. Journal of neuromuscular diseases 2023 11 . Pimchanok Kulsirichawaroj, Yanin Suksangkharn, Da Eun Nam, Theeraphong Pho-Iam, Chanin Limwongse, Ki Wha Chung, Oranee Sanmaneechai, Stephan L Zuchner, Byung-Ok Ch |
| Haplotype editing with CRISPR/Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL. bioRxiv : the preprint server for biology 2025 1 . Poorvi H Dua, Bazilco M J Simon, Chiara B E Marley, Carissa M Feliciano, Hannah L Watry, Dylan Steury, Abin Abraham, Erin N Gilbertson, Grace D Ramey, John A Capra, Bruce R Conklin, Luke M Jud |
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