Literature DB >> 27154191

MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.

Toshitaka Kawarai1, Kanto Yamasaki2, Atsuko Mori1, Naoko Takamatsu1, Yusuke Osaki1, Chimeglkham Banzrai1, Ryosuke Miyamoto1, Ryosuke Oki1, Lucia Pedace3, Antonio Orlacchio4, Hiroyuki Nodera1, Akihiro Hashiguchi5, Yujiro Higuchi5, Hiroshi Takashima5, Yoshihiko Nishida6, Yuishin Izumi1, Ryuji Kaji1.   

Abstract

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Keywords:  NEUROGENETICS

Mesh：

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Year:  2016        PMID： 27154191     DOI： 10.1136/jnnp-2015-312646

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


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  2 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.  Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.

Authors:  Marta Correa-Vela; Vincenzo Lupo; Marta Montpeyó; Paula Sancho; Anna Marcé-Grau; Jorge Hernández-Vara; Alejandra Darling; Alison Jenkins; Sandra Fernández-Rodríguez; Cristina Tello; Laura Ramírez-Jiménez; Belén Pérez; Ángel Sánchez-Montáñez; Alfons Macaya; María J Sobrido; Marta Martinez-Vicente; Belén Pérez-Dueñas; Carmen Espinós
Journal:  Ann Clin Transl Neurol       Date:  2020-08-06       Impact factor: 4.511
  2 in total

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