@article{08dde018297c475da37d526945012408,
title = "Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis",
abstract = "MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.",
author = "ITALSGEN and Johnson, \{Janel O.\} and Pioro, \{Erik P.\} and Ashley Boehringer and Ruth Chia and Howard Feit and Renton, \{Alan E.\} and Pliner, \{Hannah A.\} and Yevgeniya Abramzon and Giuseppe Marangi and Winborn, \{Brett J.\} and Gibbs, \{J. Raphael\} and Nalls, \{Michael A.\} and Sarah Morgan and Maryam Shoai and John Hardy and Alan Pittman and Orrell, \{Richard W.\} and Andrea Malaspina and Sidle, \{Katie C.\} and Pietro Fratta and Harms, \{Matthew B.\} and Baloh, \{Robert H.\} and Alan Pestronk and Weihl, \{Conrad C.\} and Ekaterina Rogaeva and Lorne Zinman and Drory, \{Vivian E.\} and Giuseppe Borghero and Gabriele Mora and Andrea Calvo and Rothstein, \{Jeffrey D.\} and Carsten Drepper and Michael Sendtner and Singleton, \{Andrew B.\} and Taylor, \{J. Paul\} and Cookson, \{Mark R.\} and Gabriella Restagno and Mario Sabatelli and Robert Bowser and Adriano Chio` and Traynor, \{Bryan J.\} and Cristina Moglia and Stefania Cammarosano and Antonio Canosa and Sara Gallo and Maura Brunetti and Irene Ossola and Kalliopi Marinou and Laura Papetti and Fabrizio Pisano",
year = "2014",
doi = "10.1038/nn.3688",
language = "English",
volume = "17",
pages = "664--666",
journal = "Nature neuroscience",
issn = "1097-6256",
number = "5",
}