Associated Papers
Iron dysregulation in mice engineered with a mutation associated with stuttering.
Millwater M et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering.
Nandhini Devi G et al.
Annals of Human Genetics, 2025
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering.
Gunasekaran ND et al.
Advanced Genetics (hoboken, N.j.), 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level.
Matos L et al.
Human Gene Therapy, 2020
Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum.
Han TU et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.
Kazemi N et al.
Gene, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
A Mutation Associated with Stuttering Alters Mouse Pup Ultrasonic Vocalizations.
Barnes TD et al.
Current Biology : Cb, 2016
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
Raza MH et al.
European Journal of Human Genetics : Ejhg, 2016
Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls.
Barnes TD et al.
Frontiers in Behavioral Neuroscience, 2016
Insights into the genetic foundations of human communication.
Graham SA et al.
Neuropsychology Review, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction.
Coutinho MF et al.
Molecular Genetics and Metabolism, 2012
Genetic approaches to understanding the causes of stuttering.
Drayna D et al.
Journal of Neurodevelopmental Disorders, 2011
Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.
Fedyna A et al.
Journal of Human Genetics, 2011
Genetic susceptibility to stuttering.
Fisher SE
The New England Journal of Medicine, 2010
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
Kang C et al.
The New England Journal of Medicine, 2010
Recent Advances in the Genetics of Vocal Learning.
Condro MC et al.
Comparative Cognition & Behavior Reviews, 0