Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 115 Records) |
| Query Trace: Charcot-marie-tooth Disease[original query] |
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| Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center. Annals of clinical and translational neurology 2021 7 8 (9): 1809-1816. Argente-Escrig Herminia, Frasquet Marina, Vázquez-Costa Juan Francisco, Millet-Sancho Elvira, Pitarch Inmaculada, Tomás-Vila Miguel, Espinós Carmen, Lupo Vincenzo, Sevilla Tere |
| Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China. European journal of neurology 2021 7 28 (11): 3774-3783. Xie Yongzhi, Lin Zhiqiang, Liu Lei, Li Xiaobo, Huang Shunxiang, Zhao Huadong, Wang Binghao, Zeng Sen, Cao Wanqian, Li Lu, Zhu Xiying, Huang Siwei, Yang Honglan, Wang Mengli, Hu Zhengmao, Wang Junling, Guo Jifeng, Shen Lu, Jiang Hong, Zuchner Stephan, Tang Beisha, Zhang Ru |
| 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 |
| Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations. Life (Basel, Switzerland) 2021 6 11 (6): . Kwon Hye Mi, Kim Hyun Su, Kim Sang Beom, Park Jae Hong, Nam Da Eun, Lee Ah Jin, Nam Soo Hyun, Hwang Soohyun, Chung Ki Wha, Choi Byung- |
| Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study. European journal of neurology 2021 6 28 (9): 2846-2854. Hauw Fabien, Fargeot Guillaume, Adams David, Attarian Shahram, Cauquil Cécile, Chanson Jean-Baptiste, Créange Alain, Gendre Thierry, Deiva Kumaran, Delmont Emilien, Francou Bruno, Genestet Steeve, Kuntzer Thierry, Latour Philippe, Le Masson Gwendal, Magy Laurent, Nardin Clotilde, Ochsner François, Sole Guilhem, Stojkovic Tanya, Maisonobe Thierry, Tard Céline, Van den Berghe Peter, Echaniz-Laguna Ando |
| GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease. Neuromuscular disorders : NMD 2021 Mar . Figueiredo Fernanda Barbosa, Silva Wilson Araújo, Giuliatti Silvana, Tomaselli Pedro José, Lourenço Charles Marques, Gouvêa Silmara de Paula, Covaleski Anna Paula Paranhos Miranda, Hallak Jaime E, Marques Wils |
| Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C. Frontiers in neurology 2021 3 12 598168. Duan Xiaohui, Ma Yan, Fan Dongsheng, Liu Xiaoxu |
| Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. Acta neurologica Belgica 2021 2 122 (5): 1169-1175. Sun Bo, He Zheng-Qing, Li Yan-Ran, Bai Jiong-Ming, Wang Hao-Ran, Wang Hong-Fen, Cui Fang, Yang Fei, Huang Xu-She |
| 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 |
| 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 |
| Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation. Genes & genomics 2022 5 44 (8): 1007-1016. Park Jaehong, Kim Hyun Su, Kwon Hye Mi, Kim Jiah, Nam Soo Hyun, Jung Na Young, Lee Ah Jin, Jung Young Hee, Kim Sang Beom, Chung Ki Wha, Choi Byung- |
| Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan. Annals of clinical and translational neurology 2022 4 9 (5): 747-755. Ando Masahiro, Higuchi Yujiro, Yuan Jun-Hui, Yoshimura Akiko, Kitao Ruriko, Morimoto Takehiko, Taniguchi Takaki, Takeuchi Mika, Takei Jun, Hiramatsu Yu, Sakiyama Yusuke, Hashiguchi Akihiro, Okamoto Yuji, Mitsui Jun, Ishiura Hiroyuki, Tsuji Shoji, Takashima Hiros |
| A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans. Orphanet journal of rare diseases 2022 3 17 (1): 133. Mahungu Amokelani C, Monnakgotla Nomakhosazana, Nel Melissa, Heckmann Jeannine |
| Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes. Journal of neurology 2022 3 269 (8): 4129-4140. Hiramatsu Yu, Okamoto Yuji, Yoshimura Akiko, Yuan Jun-Hui, Ando Masahiro, Higuchi Yujiro, Hashiguchi Akihiro, Matsuura Eiji, Nozaki Fumihito, Kumada Tomohiro, Murayama Kei, Suzuki Mikiya, Yamamoto Yuki, Matsui Naoko, Miyazaki Yoshimichi, Yamaguchi Masamitsu, Suzuki Youji, Mitsui Jun, Ishiura Hiroyuki, Tanaka Masaki, Morishita Shinichi, Nishino Ichizo, Tsuji Shoji, Takashima Hiros |
| No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort. Journal of clinical medicine 2022 11 11 (22): . Yilihamu Mubalake, He Ji, Tang Lu, Chen Yong, Liu Xiaoxuan, Fan Dongshe |
| Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments. Journal of human genetics 2022 1 67 (6): 353-362. Taniguchi Takaki, Ando Masahiro, Okamoto Yuji, Yoshimura Akiko, Higuchi Yujiro, Hashiguchi Akihiro, Matsuda Nozomu, Yamamoto Mamoru, Dohi Eisuke, Takahashi Makoto, Yoshino Masanao, Nomura Taichi, Matsushima Masaaki, Yabe Ichiro, Sanpei Yui, Ishiura Hiroyuki, Mitsui Jun, Nakagawa Masanori, Tsuji Shoji, Takashima Hiros |
| 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 |
| Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement. Journal of the peripheral nervous system : JPNS 2023 8 . Lu Li, Yongzhi Xie, Sen Zeng, Xiaobo Li, Zhiqiang Lin, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Jun Liu, Pengfei Rong, Ruxu Zha |
| 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 |
| Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases. Genes 2023 2 14 (2): . Zaman Qaiser, Khan Muhammad Abbas, Sahar Kalsoom, Rehman Gauhar, Khan Hamza, Rehman Mehwish, Najumuddin , Ahmad Ilyas, Tariq Muhmmad, Muthaffar Osama Yousef, Abdulkareem Angham Abdulrhman, Bibi Fehmida, Naseer Muhammad Imran, Faisal Muhammad Shah, Wasif Naveed, Jelani Musharr |
| 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 |
| Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients. European journal of neurology 2023 1 30 (4): 1069-1079. Lei Liu, Xiaobo Li, Zhiqiang Lin, Yongzhi Xie, Shunxiang Huang, Huadong Zhao, Beisha Tang, Ruxu Zha |
| SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause. Journal of neurogenetics 2024 7 1-6. Annabelle Arlt, Esra Akova-Öztürk, Anja Schirmacher, Bernhard Schlüter, Stephan Rust, Gerd Meyer Zu Hörste, Heinz Wiendl, Sarah Wietho |
| Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease. Frontiers in genetics 2024 6 15 1381915. Olga Shchagina, Aysylu Murtazina, Polina Chausova, Mariya Orlova, Elena Dadali, Sergei Kurbatov, Sergey Kutsev, Aleksander Polyak |
| Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation. Journal of the peripheral nervous system : JPNS 2024 5 . Zhongzheng Li, Sen Zeng, Yongzhi Xie, Xiaobo Li, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Mengli Wang, Qiaoyu Gong, Jun Liu, Pengfei Rong, Ruxu Zha |
| CMT2 and distal hereditary motor neuropathy associated with VRK1 variants: Case series. Neuromuscular disorders : NMD 2024 12 47 105254. Sasha A Živkovi?, Richard J Nowak, Daniel DiCap |
| 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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