Literature DB >> 26930221

Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.

Pedro J Tomaselli1, Alexander M Rossor1, James M Polke2, Roy Poh2, Julian Blake1,3, Mary M Reilly1.   

Abstract

Entities:  

Keywords:  Charcot-Marie-Tooth disease; Mitofusin 2; dominant; recessive; semi-dominant

Mesh：

Substances：

Year:  2016        PMID： 26930221     DOI： 10.1111/jns.12155

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


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  4 in total

1.  Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Authors:  Menelaos Pipis; Shawna M E Feely; James M Polke; Mariola Skorupinska; Laura Perez; Rosemary R Shy; Matilde Laura; Jasper M Morrow; Isabella Moroni; Chiara Pisciotta; Franco Taroni; Dragan Vujovic; Thomas E Lloyd; Gyula Acsadi; Sabrina W Yum; Richard A Lewis; Richard S Finkel; David N Herrmann; John W Day; Jun Li; Mario Saporta; Reza Sadjadi; David Walk; Joshua Burns; Francesco Muntoni; Sindhu Ramchandren; Rita Horvath; Nicholas E Johnson; Stephan Züchner; Davide Pareyson; Steven S Scherer; Alexander M Rossor; Michael E Shy; Mary M Reilly
Journal:  Brain       Date:  2020-12-01       Impact factor: 13.501

2.  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

Review 3.  Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders.

Authors:  Mode Al Ojaimi; Azza Salah; Ayman W El-Hattab
Journal:  Membranes (Basel)       Date:  2022-09-16

4.  Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Authors:  Andrea Cortese; Janel E Wilcox; James M Polke; Roy Poh; Mariola Skorupinska; Alexander M Rossor; Matilde Laura; Pedro J Tomaselli; Henry Houlden; Michael E Shy; Mary M Reilly
Journal:  Neurology       Date:  2019-12-11       Impact factor: 9.910
  4 in total

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