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Scientific Reports|January 25, 2017
Whole-exome sequencing of 228 patients with sporadic Parkinson's diseaseCynthia Sandor, Frantisek Honti, Wilfried Haerty, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 23, 2019
The relationships between symptoms, disability, perceived health and quality of life in amyotrophic lateral sclerosis/motor neuron diseaseCarolyn Anne Young, John Ealing, Christopher McDermott, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 30, 2017
Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutationsJames N Sleigh, John M Dawes, Steven J West, et al.
Scientific Reports|July 23, 2022
Human iPSC co-culture model to investigate the interaction between microglia and motor neuronsBjörn F Vahsen, Elizabeth Gray, Ana Candalija, et al.
Neurogenetics|April 15, 2010
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishLaura Southgate, Dimitra Dafou, Jacqueline Hoyle, et al.
Brain : a Journal of Neurology|September 26, 2022
The impact of age on genetic testing decisions in amyotrophic lateral sclerosisPuja R Mehta, Alfredo Iacoangeli, Sarah Opie-Martin, et al.
Stem Cells (Dayton, Ohio)|April 21, 2016
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal DementiaRuxandra Dafinca, Jakub Scaber, Nida'a Ababneh, et al.
Ebiomedicine|June 27, 2018
Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral SclerosisMatthew Salter, Emily Corfield, Aroul Ramadass, et al.
Brain : a Journal of Neurology|February 8, 2018
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth diseaseVeronick Benoy, Lawrence Van Helleputte, Robert Prior, et al.
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