Gilles de la Tourette syndrome
MM Robertson, V Eapen, HS Singer… - Nature reviews Disease …, 2017 - nature.com
Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental disorder
that is characterized by several motor and phonic tics. Tics usually develop before 10 years …
that is characterized by several motor and phonic tics. Tics usually develop before 10 years …
Neurexins and neuropsychiatric disorders
E Kasem, T Kurihara, K Tabuchi - Neuroscience research, 2018 - Elsevier
Neurexins are a family of presynaptic single-pass transmembrane proteins that act as
synaptic organizers in mammals. The neurexins consist of three genes (NRXN1, NRXN2 …
synaptic organizers in mammals. The neurexins consist of three genes (NRXN1, NRXN2 …
De novo coding variants are strongly associated with Tourette disorder
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful
approach to gene discovery in complex neurodevelopmental disorders. We have completed …
approach to gene discovery in complex neurodevelopmental disorders. We have completed …
Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal
development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly …
development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly …
De novo sequence and copy number variants are strongly associated with Tourette disorder and implicate cell polarity in pathogenesis
We previously established the contribution of de novo damaging sequence variants to
Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence …
Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence …
Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons
Heterozygous NRXN1 deletions constitute the most prevalent currently known single-gene
mutation associated with schizophrenia, and additionally predispose to multiple other …
mutation associated with schizophrenia, and additionally predispose to multiple other …
Tourette syndrome and chronic tic disorders: the clinical spectrum beyond tics
The clinical surveillance and active management of Tourette syndrome (TS) and other
primary chronic tic disorders cannot be limited to tics, as these patients manifest a spectrum …
primary chronic tic disorders cannot be limited to tics, as these patients manifest a spectrum …
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study
Objective Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable
neurodevelopmental disorders with a partially shared genetic etiology. This study represents …
neurodevelopmental disorders with a partially shared genetic etiology. This study represents …
Genetics of obsessive-compulsive disorder and related disorders
Tourette Syndrome (TS), twin and family studies support a significant genetic contribution to
OCD and also to related disorders (eg, Tourette syndrome), including chronic tic disorders …
OCD and also to related disorders (eg, Tourette syndrome), including chronic tic disorders …
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Purpose: The purpose of the current study was to assess the penetrance of NRXN1
deletions. Methods: We compared the prevalence and genomic extent of NRXN1 deletions …
deletions. Methods: We compared the prevalence and genomic extent of NRXN1 deletions …