Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Charcot-Marie-Tooth Disease and MFN2[original query] |
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| Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Human genetics 2005 Jan 116 (1-2): 23-7. Kijima Kazuki, Numakura Chikahiko, Izumino Hiroko, Umetsu Kazuo, Nezu Atsuo, Shiiki Toshihide, Ogawa Masafumi, Ishizaki Yoshito, Kitamura Takeshi, Shozawa Yasunobu, Hayasaka Kiyos |
| Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Archives of neurology 2009 Dec 66 (12): 1511-6. Calvo Judith, Funalot Benoît, Ouvrier Robert A, Lazaro Leila, Toutain Annick, De Mas Philippe, Bouche Pierre, Gilbert-Dussardier Brigitte, Arne-Bes Marie-Christine, Carrière Jean-Pierre, Journel Hubert, Minot-Myhie Marie-Christine, Guillou Claire, Ghorab Karima, Magy Laurent, Sturtz Franck, Vallat Jean-Michel, Magdelaine Corin |
| 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 |
| A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. Clinical genetics 2015 Jun 87 (6): 594-8. Choi B-O, Nakhro K, Park H J, Hyun Y S, Lee J H, Kanwal S, Jung S-C, Chung K |
| 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 |
| Copy number variations in a population-based study of Charcot-Marie-Tooth disease. BioMed research international 2015 2015 960404. Høyer Helle, Braathen Geir J, Eek Anette K, Nordang Gry B N, Skjelbred Camilla F, Russell Michael |
| 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 |
| 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 |
| 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 |
| MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients. Journal of the peripheral nervous system : JPNS 2016 Jan . Xie Y Z, Li X B, Liu L, Hu Z M, Huang Shx, Zhan Y J, Zi X H, Xia K, Tang B S, Zhang R |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, |
| [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 |
| 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 |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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