Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: GDAP1[original query] |
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[Update on hereditary neuropathy]. Rinsho shinkeigaku = Clinical neurology 2005 1 44 (11): 991-4. Nakagawa Masanori, Takashima Hiros |
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 |
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 |
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 |
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 |
Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study. Neuroepidemiology 2017 8 49 (1-2): 34-39. Marttila Maria, Kytövuori Laura, Helisalmi Seppo, Kallio Mika, Laitinen Marjo, Hiltunen Mikko, Kärppä Mikko, Majamaa Ka |
Clinical and genetic investigation in Chinese patients with demyelinating Charcot-Marie-Tooth disease. Journal of the peripheral nervous system : JPNS 2018 6 23 (4): 216-226. He Jin, Guo Lingling, Xu Guorong, Xu Liuqing, Lin Shan, Chen Wanjin, Wang Ni |
Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations. Journal of neurology 2018 1 265 (3): 637-646. Pakhrin Pukar Singh, Xie Yongzhi, Hu Zhengmao, Li Xiaobo, Liu Lei, Huang Shunxiang, Wang Binghao, Yang Zihan, Zhang Jiejun, Liu Xin, Xia Kun, Tang Beisha, Zhang Ru |
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 |
Association of SNP in JPH1 gene with severity of disease in Charcot Marie Tooth 2K patients. JPMA. The Journal of the Pakistan Medical Association 2019 Feb 69 (2): 241-243. Kanwal Sumaira, Perveen Shaz |
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. Journal of human genetics 2019 12 65 (3): 313-323. Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard A G, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes J P, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot |
Identification of type 2 diabetes loci in 433,540 East Asian individuals.
Nature 2020 06 582 (7811): 240-245. Spracklen Cassandra N, Horikoshi Momoko, Kim Young Jin, Lin Kuang, Bragg Fiona, Moon Sanghoon, Suzuki Ken, Tam Claudia H T, Tabara Yasuharu, Kwak Soo-Heon, Takeuchi Fumihiko, Long Jirong, Lim Victor J Y, Chai Jin-Fang, Chen Chien-Hsiun, Nakatochi Masahiro, Yao Jie, Choi Hyeok Sun, Iyengar Apoorva K, Perrin Hannah J, Brotman Sarah M, van de Bunt Martijn, Gloyn Anna L, Below Jennifer E, Boehnke Michael, Bowden Donald W, Chambers John C, Mahajan Anubha, McCarthy Mark I, Ng Maggie C Y, Petty Lauren E, Zhang Weihua, Morris Andrew P, Adair Linda S, Akiyama Masato, Bian Zheng, Chan Juliana C N, Chang Li-Ching, Chee Miao-Li, Chen Yii-Der Ida, Chen Yuan-Tsong, Chen Zhengming, Chuang Lee-Ming, Du Shufa, Gordon-Larsen Penny, Gross Myron, Guo Xiuqing, Guo Yu, Han Sohee, Howard Annie-Green, Huang Wei, Hung Yi-Jen, Hwang Mi Yeong, Hwu Chii-Min, Ichihara Sahoko, Isono Masato, Jang Hye-Mi, Jiang Guozhi, Jonas Jost B, Kamatani Yoichiro, Katsuya Tomohiro, Kawaguchi Takahisa, Khor Chiea-Chuen, Kohara Katsuhiko, Lee Myung-Shik, Lee Nanette R, Li Liming, Liu Jianjun, Luk Andrea O, Lv Jun, Okada Yukinori, Pereira Mark A, Sabanayagam Charumathi, Shi Jinxiu, Shin Dong Mun, So Wing Yee, Takahashi Atsushi, Tomlinson Brian, Tsai Fuu-Jen, van Dam Rob M, Xiang Yong-Bing, Yamamoto Ken, Yamauchi Toshimasa, Yoon Kyungheon, Yu Canqing, Yuan Jian-Min, Zhang Liang, Zheng Wei, Igase Michiya, Cho Yoon Shin, Rotter Jerome I, Wang Ya-Xing, Sheu Wayne H H, Yokota Mitsuhiro, Wu Jer-Yuarn, Cheng Ching-Yu, Wong Tien-Yin, Shu Xiao-Ou, Kato Norihiro, Park Kyong-Soo, Tai E-Shyong, Matsuda Fumihiko, Koh Woon-Puay, Ma Ronald C W, Maeda Shiro, Millwood Iona Y, Lee Juyoung, Kadowaki Takashi, Walters Robin G, Kim Bong-Jo, Mohlke Karen L, Sim Xueli |
Molecular analysis and clinical diversity of distal hereditary motor neuropathy. European journal of neurology 2020 4 27 (7): 1319-1326. Liu X, Duan X, Zhang Y, Sun A, Fan |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.
Nature genetics 2023 3 55 (3): 423-436. Rahmioglu Nilufer, Mortlock Sally, Ghiasi Marzieh, Møller Peter L, Stefansdottir Lilja, Galarneau Geneviève, Turman Constance, Danning Rebecca, Law Matthew H, Sapkota Yadav, Christofidou Paraskevi, Skarp Sini, Giri Ayush, Banasik Karina, Krassowski Michal, Lepamets Maarja, Marciniak B?a?ej, Nõukas Margit, Perro Danielle, Sliz Eeva, Sobalska-Kwapis Marta, Thorleifsson Gudmar, Topbas-Selcuki Nura F, Vitonis Allison, Westergaard David, Arnadottir Ragnheidur, Burgdorf Kristoffer S, Campbell Archie, Cheuk Cecilia S K, Clementi Caterina, Cook James, De Vivo Immaculata, DiVasta Amy, Dorien O, Donoghue Jacqueline F, Edwards Todd, Fontanillas Pierre, Fung Jenny N, Geirsson Reynir T, Girling Jane E, Harkki Paivi, Harris Holly R, Healey Martin, Heikinheimo Oskari, Holdsworth-Carson Sarah, Hostettler Isabel C, Houlden Henry, Houshdaran Sahar, Irwin Juan C, Jarvelin Marjo-Riitta, Kamatani Yoichiro, Kennedy Stephen H, Kepka Ewa, Kettunen Johannes, Kubo Michiaki, Kulig Bartosz, Kurra Venla, Laivuori Hannele, Laufer Marc R, Lindgren Cecilia M, MacGregor Stuart, Mangino Massimo, Martin Nicholas G, Matalliotaki Charoula, Matalliotakis Michail, Murray Alison D, Ndungu Anne, Nezhat Camran, Olsen Catherine M, Opoku-Anane Jessica, Padmanabhan Sandosh, Paranjpe Manish, Peters Maire, Polak Grzegorz, Porteous David J, Rabban Joseph, Rexrode Kathyrn M, Romanowicz Hanna, Saare Merli, Saavalainen Liisu, Schork Andrew J, Sen Sushmita, Shafrir Amy L, Siewierska-Górska Anna, S?omka Marcin, Smith Blair H, Smolarz Beata, Szaflik Tomasz, Szy??o Krzysztof, Takahashi Atsushi, Terry Kathryn L, Tomassetti Carla, Treloar Susan A, Vanhie Arne, Vincent Katy, Vo Kim C, Werring David J, Zeggini Eleftheria, Zervou Maria I, , , , , , Adachi Sosuke, Buring Julie E, Ridker Paul M, D'Hooghe Thomas, Goulielmos George N, Hapangama Dharani K, Hayward Caroline, Horne Andrew W, Low Siew-Kee, Martikainen Hannu, Chasman Daniel I, Rogers Peter A W, Saunders Philippa T, Sirota Marina, Spector Tim, Strapagiel Dominik, Tung Joyce Y, Whiteman David C, Giudice Linda C, Velez-Edwards Digna R, Uimari Outi, Kraft Peter, Salumets Andres, Nyholt Dale R, Mägi Reedik, Stefansson Kari, Becker Christian M, Yurttas-Beim Piraye, Steinthorsdottir Valgerdur, Nyegaard Mette, Missmer Stacey A, Montgomery Grant W, Morris Andrew P, Zondervan Krina |
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