Literature DB >> 29906321

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

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Abstract

Entities:  

Year:  2018        PMID: 29906321      PMCID: PMC6885978          DOI: 10.1111/jns.12263

Source DB:  PubMed          Journal:  J Peripher Nerv Syst        ISSN: 1085-9489            Impact factor:   3.494


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  8 in total

1.  A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.

Authors:  B-O Choi; K Nakhro; H J Park; Y S Hyun; J H Lee; S Kanwal; S-C Jung; K W Chung
Journal:  Clin Genet       Date:  2014-06-18       Impact factor: 4.438

2.  MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Authors:  Kristien Verhoeven; Kristl G Claeys; Stephan Züchner; J Michael Schröder; Joachim Weis; Chantal Ceuterick; Albena Jordanova; Eva Nelis; Els De Vriendt; Matthias Van Hul; Pavel Seeman; Radim Mazanec; Gulam Mustafa Saifi; Kinga Szigeti; Pedro Mancias; Ian J Butler; Andrzej Kochanski; Barbara Ryniewicz; Jan De Bleecker; Peter Van den Bergh; Christine Verellen; Rudy Van Coster; Nathalie Goemans; Michaela Auer-Grumbach; Wim Robberecht; Vedrana Milic Rasic; Yoram Nevo; Ivajlo Tournev; Velina Guergueltcheva; Filip Roelens; Peter Vieregge; Paolo Vinci; Maria Teresa Moreno; H-J Christen; Michael E Shy; James R Lupski; Jeffery M Vance; Peter De Jonghe; Vincent Timmerman
Journal:  Brain       Date:  2006-05-19       Impact factor: 13.501

3.  Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

Authors:  Akiko Abe; Chikahiko Numakura; Kazuki Kijima; Makiko Hayashi; Taeko Hashimoto; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2011-02-17       Impact factor: 3.172

4.  Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

Authors:  Judith Calvo; Benoît Funalot; Robert A Ouvrier; Leila Lazaro; Annick Toutain; Philippe De Mas; Pierre Bouche; Brigitte Gilbert-Dussardier; Marie-Christine Arne-Bes; Jean-Pierre Carrière; Hubert Journel; Marie-Christine Minot-Myhie; Claire Guillou; Karima Ghorab; Laurent Magy; Franck Sturtz; Jean-Michel Vallat; Corinne Magdelaine
Journal:  Arch Neurol       Date:  2009-12

5.  Phenotypic spectrum of MFN2 mutations in the Spanish population.

Authors:  C Casasnovas; I Banchs; J Cassereau; N Gueguen; A Chevrollier; J A Martínez-Matos; D Bonneau; V Volpini
Journal:  J Med Genet       Date:  2009-11-03       Impact factor: 6.318

6.  MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.

Authors:  Yongzhi Xie; Xiaobo Li; Lei Liu; Zhengmao Hu; Shunxiang Huang; Yajin Zhan; Xiaohong Zi; Kun Xia; Beisha Tang; Ruxu Zhang
Journal:  J Peripher Nerv Syst       Date:  2016-03       Impact factor: 3.494

7.  Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Authors:  Kazuki Kijima; Chikahiko Numakura; Hiroko Izumino; Kazuo Umetsu; Atsuo Nezu; Toshihide Shiiki; Masafumi Ogawa; Yoshito Ishizaki; Takeshi Kitamura; Yasunobu Shozawa; Kiyoshi Hayasaka
Journal:  Hum Genet       Date:  2004-11-11       Impact factor: 4.132

8.  Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Authors:  Masahiro Ando; Akihiro Hashiguchi; Yuji Okamoto; Akiko Yoshimura; Yu Hiramatsu; Junhui Yuan; Yujiro Higuchi; Jun Mitsui; Hiroyuki Ishiura; Ayako Umemura; Koichi Maruyama; Takeshi Matsushige; Shinichi Morishita; Masanori Nakagawa; Shoji Tsuji; Hiroshi Takashima
Journal:  J Peripher Nerv Syst       Date:  2017-07-30       Impact factor: 3.494

  8 in total

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