Literature DB >> 23929728

Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2.

Giorgia Bergamin1, Chiara Dalla Torre, Mario Cacciavillani, Marta Lucchetta, Francesca Boaretto, Marta Campagnolo, Maria Luisa Mostacciuolo, Chiara Briani.   

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Year:  2014        PMID： 23929728     DOI： 10.1002/mus.23985

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  4 in total

1.  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 2.  Mitofusin 2: from functions to disease.

Authors:  Riccardo Filadi; Diana Pendin; Paola Pizzo
Journal:  Cell Death Dis       Date:  2018-02-28       Impact factor: 8.469

3.  Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.

Authors:  Elena Abati; Arianna Manini; Daniele Velardo; Roberto Del Bo; Laura Napoli; Federica Rizzo; Maurizio Moggio; Nereo Bresolin; Emilia Bellone; Maria Teresa Bassi; Maria Grazia D'Angelo; Giacomo Pietro Comi; Stefania Corti
Journal:  Sci Rep       Date:  2022-04-13       Impact factor: 4.379

4.  A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2.

Authors:  Yuan Yang; Ling Li
Journal:  Ital J Pediatr       Date:  2016-03-08       Impact factor: 2.638
  4 in total

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