Literature DB >> 17940179

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.

M Muglia, G Vazza, A Patitucci, M Milani, D Pareyson, F Taroni, A Quattrone, M L Mostacciuolo.   

Abstract

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Year:  2007        PMID： 17940179      PMCID： PMC2117589          DOI： 10.1136/jnnp.2007.115774

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

1.  Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Authors:  Stephan Züchner; Irina V Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie Rochelle; Elena L Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg Evgrafov; Peter De Jonghe; Yuji Takahashi; Shoij Tsuji; Margaret A Pericak-Vance; Aldo Quattrone; Esra Battaloglu; Alexander V Polyakov; Vincent Timmerman; J Michael Schröder; Jeffery M Vance; Esra Battologlu
Journal:  Nat Genet       Date:  2004-04-04       Impact factor: 38.330

2.  Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.

Authors:  Victoria H Lawson; Brad V Graham; Kevin M Flanigan
Journal:  Neurology       Date:  2005-07-26       Impact factor: 9.910

3.  Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Authors:  K W Chung; S B Kim; K D Park; K G Choi; J H Lee; H W Eun; J S Suh; J H Hwang; W K Kim; B C Seo; S H Kim; I H Son; S M Kim; I N Sunwoo; B O Choi
Journal:  Brain       Date:  2006-07-10       Impact factor: 13.501

4.  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

5.  Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Authors:  Kathrin Engelfried; Matthias Vorgerd; Michaela Hagedorn; Gerhard Haas; Jürgen Gilles; Jörg T Epplen; Moritz Meins
Journal:  BMC Med Genet       Date:  2006-06-08       Impact factor: 2.103
  5 in total
  5 in total

1.  A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.

Authors:  Jasmine L F Fung; Mullin H C Yu; Shushu Huang; Claudia C Y Chung; Marcus C Y Chan; Sander Pajusalu; Christopher C Y Mak; Vivian C C Hui; Mandy H Y Tsang; Kit San Yeung; Monkol Lek; Brian H Y Chung
Journal:  NPJ Genom Med       Date:  2020-09-10       Impact factor: 8.617

2.  A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Authors:  Lois Dankwa; Jessica Richardson; William W Motley; Mena Scavina; Steve Courel; Tanya Bardakjian; Stephan Züchner; Steven S Scherer
Journal:  Neuromuscul Disord       Date:  2018-12-21       Impact factor: 4.296

3.  Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

Authors:  Giorgia Bergamin; Francesca Boaretto; Chiara Briani; Elena Pegoraro; Mario Cacciavillani; Andrea Martinuzzi; Maria Muglia; Andrea Vettori; Giovanni Vazza; Maria Luisa Mostacciuolo
Journal:  Neuromolecular Med       Date:  2014-05-13       Impact factor: 3.843

4.  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

Review 5.  The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.

Authors:  Mashiat Zaman; Timothy E Shutt
Journal:  Front Cell Dev Biol       Date:  2022-03-24
  5 in total

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