Re-evaluation of the phenotype caused by the commonMATR3p.Ser85Cys mutation in a new family

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to aMATR3mutation

(2015) Satoshi Yamashita et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Phenotype of matrin-3-related distal myopathy in 16 German patients

(2014) Tobias J. Müller et al.   ANNALS OF NEUROLOGY

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy

(2014) Senda Ajroud-Driss et al.   NEUROGENETICS

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

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

(2013) Hong Joo Kim et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

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

(2009) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS