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American Journal of Human Genetics|April 5, 2016
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyAdriana P Rebelo, Alexander J Abrams, Ellen Cottenie, et al.
Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2024
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disordersCamila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, et al.
Neurology|October 19, 2012
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraineAlice R Gardiner, Kailash P Bhatia, Maria Stamelou, et al.
Biorxiv : the Preprint Server for Biology|July 16, 2025
TDP-43 pathology induces CD8+ T cell activation through cryptic epitope recognitionShahab Chizari, Matteo Zanovello, Steven Kong, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|May 26, 2007
Genetics of epilepsy: epilepsy research foundation workshop reportSanjay Sisodiya, J Helen Cross, Ingmar Blümcke, et al.
Circulation|May 4, 2013
Efficacy and safety of apixaban compared with warfarin at different levels of predicted international normalized ratio control for stroke prevention in atrial fibrillationLars Wallentin, Renato D Lopes, Michael Hanna, et al.
The New England Journal of Medicine|August 30, 2011
Apixaban versus warfarin in patients with atrial fibrillationChristopher B Granger, John H Alexander, John J V McMurray, et al.
Cell Reports|July 27, 2012
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsionsHsien-Yang Lee, Yong Huang, Nadine Bruneau, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
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