Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Charcot-Marie-Tooth Disease and GJB1[original query] |
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| Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. Genetics in medicine : official journal of the American College of Medical Genetics 2006 Aug 8 (8): 532-5. Song Shujuan, Zhang Yuanzhi, Chen Biao, Zhang Yuanjin, Wang Manjie, Wang Yueying, Yan Ming, Zou Junhua, Huang Yu, Zhong Nanbe |
| Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clinical chemistry 2007 Feb 53 (2): 349-52. Kennerson ML, Warburton T, Nelis E, Brewer M, Polly P, De Jonghe P, Timmerman V, Nicholson GA |
| Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. Journal of human genetics 2008 53 (6): 529-33. Mandich Paola, Grandis Marina, Geroldi Alessandro, Acquaviva Massimo, Varese Alessandra, Gulli Rossella, Ciotti Paola, Bellone Emil |
| Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. European journal of human genetics : EJHG 2009 Sep 17 (9): 1154-9. Miltenberger-Miltenyi Gabriel, Schwarzbraun Thomas, Löscher Wolfgang N, Wanschitz Julia, Windpassinger Christian, Duba Hans-Christoph, Seidl Rainer, Albrecht Gerhard, Weirich-Schwaiger Helga, Zoller Heinz, Utermann Gerd, Auer-Grumbach Michaela, Janecke Andreas |
| 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 |
| Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy. Journal of the neurological sciences 2013 Sep 332 (1-2): 51-5. Tsai Pei-Chien, Chen Chung-Huang, Liu An-Bon, Chen Yun-Chung, Soong Bing-Wen, Lin Kon-Ping, Yet Shaw-Fang, Lee Yi-Chu |
| Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. Neuromolecular medicine 2014 Sep 16 (3): 540-50. Bergamin Giorgia, Boaretto Francesca, Briani Chiara, Pegoraro Elena, Cacciavillani Mario, Martinuzzi Andrea, Muglia Maria, Vettori Andrea, Vazza Giovanni, Mostacciuolo Maria Lui |
| 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 |
| Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients. Neuromuscular disorders : NMD 2016 10 26 (10): 706-711. Milley Gyorgy Mate, Varga Edina Timea, Grosz Zoltan, Bereznai Benjamin, Aranyi Zsuzsanna, Boczan Judit, Dioszeghy Peter, Kálmán Bernadette, Gal Aniko, Molnar Maria Jud |
| 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 |
| Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2017 Mar . Lorena Lorefice, Rita Murru M, Giancarlo Coghe, Giuseppe Fenu, Daniela Corongiu, Jessica Frau, Stefania Tranquilli, Paolo Tacconi, Alessandro Vannelli, Giovanni Marrosu, Elena Mamusa, Eleonora Cocco, Giovanna Marrosu |
| X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association. Journal of neurology, neurosurgery, and psychiatry 2018 9 90 (2): 187-194. Koutsis Georgios, Breza Marianthi, Velonakis Georgios, Tzartos John, Kasselimis Dimitrios, Kartanou Chrisoula, Karavasilis Efstratios, Tzanetakos Dimitrios, Anagnostouli Maria, Andreadou Elisavet, Evangelopoulos Maria-Eleftheria, Kilidireas Constantinos, Potagas Constantin, Panas Marios, Karadima Georg |
| New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease. Journal of the peripheral nervous system : JPNS 2019 5 24 (2): 207-212. Gouvea Silmara P, Tomaselli Pedro J, Barretto Luiza S, Perina Keity C B, Nyshyama Fulviana S, Nicolau Nilson, Lourenço Charles M, Marques Wils |
| A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree. Molecular genetics & genomic medicine 2020 1 8 (3): e1127. Liu Yingdi, Xue Jinjie, Li Zhuo, Linpeng Siyuan, Tan Hu, Teng Yanling, Liang Desheng, Wu Lingqi |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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