Isolated inclusion body myopathy caused by a multisystem proteinopathy–linkedhnRNPA1mutation-Reference-Cited by-同舟云学术

Isolated inclusion body myopathy caused by a multisystem proteinopathy–linkedhnRNPA1mutation

Published:2015-09-24 Issue:3 Volume:1 Page:e23
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Izumi Rumiko,Warita Hitoshi,Niihori Tetsuya,Takahashi Toshiaki,Tateyama Maki,Suzuki Naoki,Nishiyama Ayumi,Shirota Matsuyuki,Funayama Ryo,Nakayama Keiko,Mitsuhashi Satomi,Nishino Ichizo,Aoki Yoko,Aoki Masashi

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),Clinical Neurology

Reference37 articles.

1. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

2. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

3. SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles;Bucelli;Neurology,2015

4. Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

5. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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