The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

(2017) A. Jeremy Willsey et al.   NEURON

Transcriptome Analysis of the Human Striatum in Tourette Syndrome

(2016) Jessica B. Lennington et al.   BIOLOGICAL PSYCHIATRY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The clinical and genetic heterogeneity of paroxysmal dyskinesias

(2015) Alice R. Gardiner et al.   BRAIN

A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland

(2015) Shuli Liang et al.   BRAIN RESEARCH

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): Evidence of mitochondrial dysfunction

(2015) Daniele Ghezzi et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Corticostriatal interactions in the generation of tic-like behaviors after local striatal disinhibition

(2015) Vladimir Pogorelov et al.   EXPERIMENTAL NEUROLOGY

Corticostriatal Divergent Function in Determining the Temporal and Spatial Properties of Motor Tics

(2015) M. Israelashvili et al.   JOURNAL OF NEUROSCIENCE

Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis

(2015) Yiguo Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted ablation of cholinergic interneurons in the dorsolateral striatum produces behavioral manifestations of Tourette syndrome

(2015) Meiyu Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods

(2014) Andrea Dietrich et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Dysregulated intracellular signaling in the striatum in a pathophysiologically grounded model of Tourette syndrome

(2014) Maximiliano Rapanelli et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

(2014) Hao Hu et al.   NATURE BIOTECHNOLOGY

Genetic variability in the regulation of gene expression in ten regions of the human brain

(2014) Adaikalavan Ramasamy et al.   NATURE NEUROSCIENCE

The inheritance of Tourette Disorder: A review

(2014) David L. Pauls et al.   Journal of Obsessive-Compulsive and Related Disorders

Motor Cortical Excitability Assessed by Transcranial Magnetic Stimulation in Psychiatric Disorders: A Systematic Review

(2013) Tilmann Bunse et al.   Brain Stimulation

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

(2012) Hsien-yang Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

Familial paroxysmal nonkinesigenic dyskinesia: Clinical and genetic analysis of a Taiwanese family

(2012) Tu-Hsueh Yeh et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genome-wide association study of Tourette's syndrome

(2012) J M Scharf et al.   MOLECULAR PSYCHIATRY

NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Motor-Cortical Interaction in Gilles de la Tourette Syndrome

(2012) Stephanie Franzkowiak et al.   PLoS One

The Neural Circuits That Generate Tics in Tourette's Syndrome

(2011) Zhishun Wang et al.   AMERICAN JOURNAL OF PSYCHIATRY

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: Report of two Southern European families

(2011) Roser Pons et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

(2011) Yiguo Shen et al.   HUMAN MOLECULAR GENETICS

Abnormal cortical and brain stem plasticity in Gilles de la Tourette syndrome

(2011) Antonio Suppa et al.   MOVEMENT DISORDERS

Induction of human neuronal cells by defined transcription factors

(2011) Zhiping P. Pang et al.   NATURE

Familial Paroxysmal Kinesigenic Choreo-athetosis in a Child with Visual Hallucinations and Obsessive-Compulsive Behaviour

(2010) James E. Jan et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Neurobiological Substrates of Tourette's Disorder

(2010) James F. Leckman et al.   JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY

Altered pattern of motor cortical activation-inhibition during voluntary movements in Tourette syndrome

(2010) Stephanie Franzkowiak et al.   MOVEMENT DISORDERS

Direct conversion of fibroblasts to functional neurons by defined factors

(2010) Thomas Vierbuchen et al.   NATURE

L-Histidine Decarboxylase and Tourette's Syndrome

(2010) A. Gulhan Ercan-Sencicek et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structural changes in the somatosensory system correlate with tic severity in Gilles de la Tourette syndrome

(2009) G. Thomalla et al.   BRAIN

Somatosensory–motor bodily representation cortical thinning in Tourette: Effects of tic severity, age and gender

(2009) Cherine Fahim et al.   CORTEX

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

(2009) Daniele Ghezzi et al.   HUMAN MOLECULAR GENETICS

Decreased number of parvalbumin and cholinergic interneurons in the striatum of individuals with Tourette syndrome

(2009) Yuko Kataoka et al.   JOURNAL OF COMPARATIVE NEUROLOGY

A Family With Paroxysmal Nonkinesigenic Dyskinesia: Genetic and Treatment Issues

(2009) Krzysztof Szczałuba et al.   PEDIATRIC NEUROLOGY

New Jersey Center for Tourette Syndrome Sharing Repository: methods and sample description

(2008) Gary A Heiman et al.   BMC Medical Genomics

Thinning of sensorimotor cortices in children with Tourette syndrome

(2008) Elizabeth R Sowell et al.   NATURE NEUROSCIENCE

Primary motor cortex and movement prevention: Where Stop meets Go

(2008) Cathy M. Stinear et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS