Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 43 Records) |
Query Trace: GJB1[original query] |
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[The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease]. Zhonghua nei ke za zhi 2015 Jul 54 (7): 623-7. Liu Xiaoxuan, Fan Dongsheng, Song Shuju |
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences 2015 53 (3): 270-4. Madej-Pilarczyk A, Kotruchow K, Kabzinska D, Cegielska J, Kochanski A, Hausmanowa-Petrusewicz |
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease. Clinica chimica acta; international journal of clinical chemistry 2015 Oct . Wang Rui, He Jin, Li Jing-Jin, Ni Wang, Wu Zhi-Ying, Chen Wan-Jin, Wang |
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 |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clinical genetics 2016 May . Fattahi Zohreh, Kalhor Zahra, Fadaee Mahsa, Vazehan Raheleh, Parsimehr Elham, Abolhassani Ayda, Beheshtian Maryam, Zamani Gholamreza, Nafissi Shahriar, Nilipour Yalda, Akbari Mohammad R, Kahrizi Kimia, Kariminejad Ariana, Najmabadi Hosse |
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? Brain and behavior 2016 Mar e00451. Werheid Friederike, Azzedine Hamid, Zwerenz Eva, Bozkurt Ahmet, Moeller Marcus J, Lin Lilian, Mull Michael, Häusler Martin, Schulz Jörg B, Weis Joachim, Claeys Kristl |
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 |
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 |
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 |
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- |
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 |
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 |
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations. Frontiers in neurology 2020 9 11 690. Liu Xiaoxuan, Duan Xiaohui, Zhang Yingshuang, Sun Aping, Fan Dongshe |
Screening for genetic mutations in patients with neuropathy without definite etiology is useful. Journal of neurology 2020 5 267 (9): 2648-2654. Vogt Braden, Chahin Nizar, Wiszniewski Wojciech, Ragole Thomas, Karam Chaf |
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 |
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 |
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 |
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 |
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022 10 54 (5): 874-883. Liu X X, Duan X H, Zhang S, Sun A P, Zhang Y S, Fan D |
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 |
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 |
Changes in Expression of Key Genes in Alzheimer's Disease: A Specific Brain Tissue Change. The journals of gerontology. Series A, Biological sciences and medical sciences 2024 1 . Lucas Trevizani Rasmussen, Roger Willian de Labio, Mônica Pezenatto Dos Santos, Bruno Mari Fredi, Eduardo Federighi Baisi Chagas, Elizabeth Suchi Chen, Gustavo Turecki, Marília de Arruda Cardoso Smith, Spencer Luiz Marques Pay |
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- Page last updated:Apr 29, 2024
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