ArticleJournal of neurodevelopmental disorders2011
Genetic approaches to understanding the causes of stuttering.
Article in Journal of neurodevelopmental disorders, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Who cites it
14 citing papers in PubMed, 64 citations in OpenAlex.
- Stuttering: Our Current Knowledge, Research Opportunities, and Ways to Address Critical Gaps.Neurobiology of language (Cambridge, Mass.) · 2025Review
- Communicative practices and perceptions towards stuttering people in South Africa.The South African journal of communication disorders = Die Suid-Afrikaanse tydskrif vir Kommunikasieafwykings · 2024Article
- Dyslexia and Stuttering: An Overview of Processing Deficits and the Relationship Between Them.Cureus · 2023Review
- Stuttering as a spectrum disorder: A hypothesis.Current research in neurobiology · 2023Review
- Speech Fluency Improvement in Developmental Stuttering Using Non-invasive Brain Stimulation: Insights From Available Evidence.Frontiers in human neuroscience · 2021Review
- Article
- Neurofilament-lysosomal genetic intersections in the cortical network of stuttering.Progress in neurobiology · 2020Article
- Trait related sensorimotor deficits in people who stutter: An EEG investigation ofNeuroImage. Clinical · 2018Article
- Childhood Stuttering: Where Are We and Where Are We Going?Seminars in speech and language · 2016Article
- Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.BMC genetics · 2015Article
- Basal ganglia function, stuttering, sequencing, and repair in adult songbirds.Scientific reports · 2014Article
- Prevalence of risk factors for stuttering among boys: analytical cross-sectional study.Sao Paulo medical journal = Revista paulista de medicina · 2014Article
- Neurogenomics of speech and language disorders: the road ahead.Genome biology · 2013Review
- Toward epigenetic and gene regulation models of specific language impairment: looking for links among growth, genes, and impairments.Journal of neurodevelopmental disorders · 2012Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Stuttering is a common but poorly understood speech disorder. Evidence accumulated over the past several decades has indicated that genetic factors are involved, and genetic linkage studies have begun to identify specific chromosomal loci at which causative genes are likely to reside. A detailed investigation of one such region on chromosome 12 has identified mutations in the GNPTAB gene that are associated with stuttering in large families and in the general population. Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes. Mutations in these genes disrupt the lysosomal targeting pathway that generates the Mannose 6-phosphate signal, which directs a diverse group of enzymes to their target location in the lysosome of the cell. While mutations in these three genes can be identified in less than 10% of cases of familial stuttering, this knowledge allows a variety of new studies that can help identify the neuropathology that underlies this disorder.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.