Literature DB >> 20530328

Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.

F Boaretto1, A Vettori, A Casarin, G Vazza, M Muglia, M G Rossetto, T Cavallaro, N Rizzuto, V Carelli, L Salviati, M L Mostacciuolo, A Martinuzzi.   

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Year:  2010        PMID： 20530328     DOI： 10.1212/WNL.0b013e3181e240f9

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  11 in total

1.  Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.

Authors:  Christopher J Klein; Grace W Kimmel; Sean J Pittock; JaNean E Engelstad; Julie M Cunningham; Yanhong Wu; Peter J Dyck
Journal:  Arch Neurol       Date:  2011-10

2.  Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration.

Authors:  Lucy Liu; Ke Zhang; Hector Sandoval; Shinya Yamamoto; Manish Jaiswal; Elisenda Sanz; Zhihong Li; Jessica Hui; Brett H Graham; Albert Quintana; Hugo J Bellen
Journal:  Cell       Date:  2015-01-15       Impact factor: 41.582

3.  A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.

Authors:  Su-Yeon Park; So Yeon Kim; Yoon-Ho Hong; Sung Im Cho; Moon-Woo Seong; Sung Sup Park
Journal:  Neurogenetics       Date:  2012-04-20       Impact factor: 2.660

4.  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

Review 5.  Mitochondrial DNA: impacting central and peripheral nervous systems.

Authors:  Valerio Carelli; David C Chan
Journal:  Neuron       Date:  2014-12-17       Impact factor: 17.173

6.  The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

Authors:  Kon-Ping Lin; Bing-Wen Soong; Chih-Chao Yang; Li-Wen Huang; Ming-Hong Chang; I-Hui Lee; Anthony Antonellis; Antony Antonellis; Yi-Chung Lee
Journal:  PLoS One       Date:  2011-12-19       Impact factor: 3.240

7.  Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction.

Authors:  Hideaki Nishihara; Masatoshi Omoto; Masaki Takao; Yujiro Higuchi; Michiaki Koga; Motoharu Kawai; Hiroo Kawano; Eiji Ikeda; Hiroshi Takashima; Takashi Kanda
Journal:  Neurol Genet       Date:  2017-07-27

8.  The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.

Authors:  Małgorzata Beręsewicz; Anna Boratyńska-Jasińska; Łukasz Charzewski; Maria Kawalec; Dagmara Kabzińska; Andrzej Kochański; Krystiana A Krzyśko; Barbara Zabłocka
Journal:  PLoS One       Date:  2017-01-11       Impact factor: 3.240

9.  A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.

Authors:  Katarzyna Kotruchow; Dagmara Kabzińska; Irena Hausmanowa-Petrusewicz; Andrzej Kochański
Journal:  Acta Myol       Date:  2013-12

Review 10.  Mitofusin 2 Dysfunction and Disease in Mice and Men.

Authors:  Gerald W Dorn
Journal:  Front Physiol       Date:  2020-07-09       Impact factor: 4.566
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