Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 49 Records) |
| Query Trace: Disease and MFN2[original query] |
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| Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients. Neuromuscular disorders : NMD 2017 11 28 (1): 38-43. Milley György Máté, Varga Edina Timea, Grosz Zoltán, Nemes Csilla, Arányi Zsuzsanna, Boczán Judit, Diószeghy Péter, Molnár Mária Judit, Gál Ani |
| Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain). Journal of the peripheral nervous system : JPNS 2018 12 24 (1): 131-138. Lousa Manuel, Vázquez-Huarte-Mendicoa Carlos, Gutiérrez Antonio J, Saavedra Pedro, Navarro Beatriz, Tugores Anton |
| 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 |
| Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease. Clinical genetics 2019 Aug . Chen Cong-Xin, Dong Hai-Lin, Wei Qiao, Li Li-Xi, Yu Hao, Li Jia-Qi, Liu Gong-Lu, Li Hong-Fu, Bai Ge, Ma Huan, Wu Zhi-Yi |
| Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics. Journal of the neurological sciences 2019 May 402 62-68. Goldstein Orly, Kedmi Merav, Gana-Weisz Mali, Twito Shir, Nefussy Beatrice, Vainer Batel, Fainmesser Yaara, Abraham Alon, Nayshool Omri, Orr-Urtreger Avi, Drory Vivian |
| Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2. Neurogenetics 2019 12 21 (2): 79-86. Lin Shan, Xu Liu-Qing, Xu Guo-Rong, Guo Ling-Ling, Lin Bi-Juan, Chen Wan-Jin, Wang Ning, Lin Yi, He J |
| Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease. Frontiers in neurology 2020 7 11 630. Liu Xiaoxuan, Duan Xiaohui, Zhang Yingshuang, Fan Dongshe |
| Optic Neuropathy in Charcot-Marie-Tooth Disease. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 5 41 (2): 233-238. Hamedani Ali G, Wilson James A, Avery Robert A, Scherer Steven |
| 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 |
| Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants. Frontiers in genetics 2021 8 12 682050. Ferese Rosangela, Campopiano Rosa, Scala Simona, D'Alessio Carmelo, Storto Marianna, Buttari Fabio, Centonze Diego, Logroscino Giancarlo, Zecca Chiara, Zampatti Stefania, Fornai Francesco, Cianci Vittoria, Manfroi Elisabetta, Giardina Emiliano, Magnani Mauro, Suppa Antonio, Novelli Giuseppe, Gambardella Stefa |
| Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease. BMC medical genomics 2021 7 14 (1): 174. Kanwal Sumaira, Choi Yu JIn, Lim Si On, Choi Hee Ji, Park Jin Hee, Nuzhat Rana, Khan Aneela, Perveen Shazia, Choi Byung-Ok, Chung Ki W |
| 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 |
| The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease. Turkish neurosurgery 2021 6 31 (6): 888-895. Yalcintepe Sinem, Gurkan Hakan, Dogan Ipek Gungor, Demir Selma, Sag Sebnem Ozemri, Kabayegit Zehra Manav, Atli Emine Ikbal, Atli Engin, Eker Damla, Temel Sehime Guls |
| Mitochondrial Dynamics Related Genes -MFN1, MFN2 and DRP1 Polymorphisms are Associated with Risk of Lung Cancer. Pharmacogenomics and personalized medicine 2021 6 14 695-703. Liang Xiaohua, Dang Shengqia |
| Rare among Rare: Phenotypes of Uncommon CMT Genotypes. Brain sciences 2021 12 11 (12): . Gentile Luca, Russo Massimo, Taioli Federica, Ferrarini Moreno, Aguennouz M'Hammed, Rodolico Carmelo, Toscano Antonio, Fabrizi Gian Maria, Mazzeo 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 |
| Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain : a journal of neurology 2021 1 143 (12): 3589-3602. Pipis Menelaos, Feely Shawna M E, Polke James M, Skorupinska Mariola, Perez Laura, Shy Rosemary R, Laura Matilde, Morrow Jasper M, Moroni Isabella, Pisciotta Chiara, Taroni Franco, Vujovic Dragan, Lloyd Thomas E, Acsadi Gyula, Yum Sabrina W, Lewis Richard A, Finkel Richard S, Herrmann David N, Day John W, Li Jun, Saporta Mario, Sadjadi Reza, Walk David, Burns Joshua, Muntoni Francesco, Ramchandren Sindhu, Horvath Rita, Johnson Nicholas E, Züchner Stephan, Pareyson Davide, Scherer Steven S, Rossor Alexander M, Shy Michael E, Reilly Mary M, |
| 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 |
| [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]. Zhonghua nei ke za zhi 2022 8 61 (8): 901-907. Sun B, He Z Q, Wang H F, Li Y R, Yang F, Cui F, Chen Z H, Huang X |
| Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted Next-Generation Sequencing: clinical & molecular spectrum delineation. Journal of the peripheral nervous system : JPNS 2023 9 . Zoi Kontogeorgiou, Chrisoula Kartanou, Michail Rentzos, Panagiotis Kokotis, Evangelos Anagnostou, Thomas Zambelis, Elisabeth Chroni, Argyris Dinopoulos, Marios Panas, Georgios Koutsis, Georgia Karadi |
| The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in neurology 2023 9 14 1239725. Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma |
| An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review. Gene 2023 8 883 147684. Yuanzhu Zhang, Daxin Pang, Ziru Wang, Lerong Ma, Yiwu Chen, Lin Yang, Wenyu Xiao, Hongming Yuan, Fei Chang, Hongsheng Ouya |
| Mitofusin-2 gene polymorphisms and metabolic dysfunction associated fatty liver disease: a case-control study in a Chinese population. The Journal of international medical research 2023 7 51 (7): 3000605231187953. Xiwei Yuan, Mengmeng Hou, Yiqi Wang, Siyu Zhang, Lu Li, Yingjun Mi, Huijuan Du, Songhao Yu, Yuemin N |
| Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients. Frontiers in genetics 2023 7 14 1188361. Yan Ma, Xiaohui Duan, Xiaoxuan Liu, Dongsheng F |
| 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 |
| Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W. Cells 2024 9 13 (18): . Bernardo A Bustillos, Liam T Cocker, Mathew A Coban, Caleb A Weber, Jenny M Bredenberg, Paige K Boneski, Joanna Siuda, Jaroslaw Slawek, Andreas Puschmann, Derek P Narendra, Neill R Graff-Radford, Zbigniew K Wszolek, Dennis W Dickson, Owen A Ross, Thomas R Caulfield, Wolfdieter Springer, Fabienne C Fies |
| Genomic Exploration of Essential Hypertension in African-Brazilian Quilombo Populations: A Comprehensive Approach with Pedigree Analysis and Family-Based Association Studies. medRxiv : the preprint server for health sciences 2024 7 . Vinícius Magalhães Borges, Andrea R V R Horimoto, Ellen Marie Wijsman, Lilian Kimura, Kelly Nunes, Alejandro Q Nato, Regina Célia Mingroni-Net |
| The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma. Human molecular genetics 2025 1 . Yiwen Zhou, Youjia Zhang, Qingdan Xu, Xinghuai Sun, Yuhong Ch |
| Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants. European journal of neurology 2025 1 32 (1): e16572. Arman Cakar, Ayse Candayan, Gulandam Bag?rova, Zehra Oya Uyguner, Serdar Ceylaner, Hacer Durmus, Esra Battaloglu, Yesim Parm |
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