PMC Articles for MedGen (Select 854832) - PMC

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Items: 4

Select item 92474981.

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes

Alayne P. Meyer, Megan E. Forrest, Stefan Nicolau, Wojciech Wiszniewski, Mary Pat Bland, Chang-Yong Tsao, Anthony Antonellis, Nicolas J. Abreu

Hum Mutat. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Hum Mutat. 2022 Jul; 43(7): 869–876. Published online 2022 Apr 21. doi: 10.1002/humu.24372

PMCID:: PMC9247498

Abstract Article PDF–674K

Select item 54153772.

Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes

Kathryn H. Morelli, Kevin L. Seburn, David G. Schroeder, Emily L. Spaulding, Loiuse A. Dionne, Gregory A. Cox, Robert W. Burgess

Cell Rep. Author manuscript; available in PMC 2017 May 3.

Published in final edited form as: Cell Rep. 2017 Mar 28; 18(13): 3178–3191. doi: 10.1016/j.celrep.2017.03.009

PMCID:: PMC5415377

Abstract Article PDF–1.3M

Select item 47543533.

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

Weiwei He, Ge Bai, Huihao Zhou, Na Wei, Nicholas M. White, Janelle Lauer, Huaqing Liu, Yi Shi, Calin Dan Dumitru, Karen Lettieri, Veronica Shubayev, Albena Jordanova, Velina Guergueltcheva, Patrick R. Griffin, Robert W. Burgess, Samuel L. Pfaff, Xiang-Lei Yang

Nature. Author manuscript; available in PMC 2016 Apr 29.

Published in final edited form as: Nature. 2015 Oct 29; 526(7575): 710–714. Published online 2015 Oct 21. doi: 10.1038/nature15510

Correction in:: Nature. 2016 Apr 21; 532(7599): 402.

PMCID:: PMC4754353

Abstract Article PDF–3.9M

Select item 27582164.

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Esther Brusse, Danielle Majoor-Krakauer, Bianca M. de Graaf, Gerhard H. Visser, Sigrid Swagemakers, Agnita J.W. Boon, Ben A. Oostra, Aida M. Bertoli-Avella

Neurogenetics. 2009; 10(4): 289–297. Published online 2009 Apr 24. doi: 10.1007/s10048-009-0193-1