PMC Links for OMIM (Select 606070) - PMC

Select item 40005791.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Janel O. Johnson, Erik P. Pioro, Ashley Boehringer, Ruth Chia, Howard Feit, Alan E. Renton, Hannah A. Pliner, Yevgeniya Abramzon, Giuseppe Marangi, Brett J. Winborn, J Raphael Gibbs, Michael A. Nalls, Sarah Morgan, Maryam Shoai, John Hardy, Alan Pittman, Richard W. Orrell, Andrea Malaspina, Katie C. Sidle, Pietro Fratta, Matthew B. Harms, Robert H. Baloh, Alan Pestronk, Conrad C. Weihl, Ekaterina Rogaeva, Lorne Zinman, Vivian E. Drory, Giuseppe Borghero, Gabriele Mora, Andrea Calvo, Jeffrey D. Rothstein, ITALSGEN, Carsten Drepper, Michael Sendtner, Andrew B. Singleton, J. Paul Taylor, Mark R. Cookson, Gabriella Restagno, Mario Sabatelli, Robert Bowser, Adriano Chiò, Bryan J. Traynor

Nat Neurosci. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Nat Neurosci. 2014 May; 17(5): 664–666. Published online 2014 Mar 30. doi: 10.1038/nn.3688

PMCID:: PMC4000579

Abstract Article PDF–567K

Select item 26679772.

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

Jan Senderek, Sean M. Garvey, Michael Krieger, Velina Guergueltcheva, Andoni Urtizberea, Andreas Roos, Miriam Elbracht, Claudia Stendel, Ivailo Tournev, Violeta Mihailova, Howard Feit, Jeff Tramonte, Peter Hedera, Kristy Crooks, Carsten Bergmann, Sabine Rudnik-Schöneborn, Klaus Zerres, Hanns Lochmüller, Eric Seboun, Joachim Weis, Jacques S. Beckmann, Michael A. Hauser, Charles E. Jackson

Am J Hum Genet. 2009 Apr 10; 84(4): 511–518. doi: 10.1016/j.ajhg.2009.03.006

PMCID:: PMC2667977

Abstract Article PDF–1.0M

Select item 18011493.

Autosomal dominant distal myopathy: linkage to chromosome 14.

N G Laing, B A Laing, C Meredith, S D Wilton, P Robbins, K Honeyman, S Dorosz, H Kozman, F L Mastaglia, B A Kakulas

Am J Hum Genet. 1995 Feb; 56(2): 422–427.

PMCID:: PMC1801149

Summary Page Browse PDF–1.0M

Select item 13776454.

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

H Feit, A Silbergleit, L B Schneider, J A Gutierrez, R P Fitoussi, C Réyès, G A Rouleau, B Brais, C E Jackson, J S Beckmann, E Seboun

Am J Hum Genet. 1998 Dec; 63(6): 1732–1742. doi: 10.1086/302166

PMCID:: PMC1377645

Summary PDF–376K

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