Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing

Delays to the diagnosis of cervical dystonia

(2016) Kelly L. Bertram et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Genetics of movement disorders in the next-generation sequencing era

(2016) Simone Olgiati et al.   MOVEMENT DISORDERS

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing

(2016) Aloysius Domingo et al.   MOVEMENT DISORDERS

Cerebral palsy: causes, pathways, and the role of genetic variants

(2015) Alastair H. MacLennan et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Deep anterior cerebellar stimulation reduces symptoms of secondary dystonia in patients with cerebral palsy treated due to spasticity

(2015) Paweł Sokal et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes

(2015) B. Balint et al.   EUROPEAN JOURNAL OF NEUROLOGY

Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

(2015) Julie Jurgens et al.   GENETICS IN MEDICINE

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Diagnostic delay in adult-onset dystonia: Data from an Italian movement disorder center

(2015) A. Macerollo et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Diagnostic Delays in Spasmodic Dysphonia: A Call for Clinician Education

(2015) Francis X. Creighton et al.   JOURNAL OF VOICE

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

(2015) G McMichael et al.   MOLECULAR PSYCHIATRY

Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia

(2015) N. Bruggemann et al.   NEUROLOGY

Brain Stimulation for Torsion Dystonia

(2015) Michael D. Fox et al.   JAMA Neurology

Treatment of Wilson's disease motor complications with deep brain stimulation

(2014) Peter Hedera   Annals of the New York Academy of Sciences

Causes for Treatment Delays in Dystonia and Hemifacial Spasm: A Canadian Survey

(2014) Mandar Jog et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations

(2014) R. Guerreiro et al.   HUMAN MOLECULAR GENETICS

Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm

(2014) Martje E van Egmond et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Pallidal neurostimulation in patients with medication-refractory cervical dystonia: a randomised, sham-controlled trial

(2014) Jens Volkmann et al.   LANCET NEUROLOGY

The phenotypic spectrum of DYT24 due to ANO3 mutations

(2014) Maria Stamelou et al.   MOVEMENT DISORDERS

Deep brain stimulation in the ventrolateral thalamus/subthalamic area in dystonia with head tremor

(2014) K. Amande M. Pauls et al.   MOVEMENT DISORDERS

Reliability of Clinical Diagnosis of Dystonia

(2014) Ettore Beghi et al.   NEUROEPIDEMIOLOGY

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

(2014) A. Meneret et al.   NEUROLOGY

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deep Brain Stimulation of the Thalamic Ventral Lateral Anterior Nucleus for DYT6 Dystonia

(2014) Hideo Mure et al.   STEREOTACTIC AND FUNCTIONAL NEUROSURGERY

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Implementing genomic medicine in the clinic: the future is here

(2013) Teri A. Manolio et al.   GENETICS IN MEDICINE

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

(2013) Lora J.H. Bean et al.   HUMAN MUTATION

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

(2013) Erin Rooney Riggs et al.   HUMAN MUTATION

GENOTYPE SPECIFIC CEREBELLAR INVOLVEMENT IN DYT1 AND DYT6 DYSTONIA?

(2013) Anna Sadnicka et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The treatment of dystonic tremor: a systematic review

(2013) A. Fasano et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

How long does it take to diagnose cervical dystonia?

(2013) Evan Tiderington et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation

(2013) Aikaterina Angeli et al.   MOVEMENT DISORDERS

Primary writing tremor and writer's cramp: Two faces of a same coin?

(2013) Patrícia Pita Lobo et al.   MOVEMENT DISORDERS

Genetics of dystonia: What's known? What's new? What's next?

(2013) Katja Lohmann et al.   MOVEMENT DISORDERS

Phenomenology and classification of dystonia: A consensus update

(2013) Alberto Albanese et al.   MOVEMENT DISORDERS

Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes

(2013) Victor S. C. Fung et al.   MOVEMENT DISORDERS

Emerging concepts in the physiological basis of dystonia

(2013) Angelo Quartarone et al.   MOVEMENT DISORDERS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Bringing genome-wide association findings into clinical use

(2013) Teri A. Manolio   NATURE REVIEWS GENETICS

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia

(2013) G. Charlesworth et al.   NEUROLOGY

Dystonia as a network disorder: What is the role of the cerebellum?

(2013) C.N. Prudente et al.   NEUROSCIENCE

Neuromodulation for Dystonia

(2013) Kelly A. Mills et al.   NEUROSURGERY CLINICS OF NORTH AMERICA

Surgical targets for dystonic tremor: Considerations between the globus pallidus and ventral intermediate thalamic nucleus

(2013) Peter Hedera et al.   PARKINSONISM & RELATED DISORDERS

Tardive dyskinesia syndromes: current concepts

(2013) Camila Catherine H. Aquino et al.   PARKINSONISM & RELATED DISORDERS

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

(2012) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deep brain stimulation for dystonia

(2012) M. Vidailhet et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

(2012) R. Saunders-Pullman et al.   NEUROLOGY

Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases

(2012) Mark S. LeDoux et al.   PARKINSONISM & RELATED DISORDERS

Difficult Diagnoses in Hyperkinetic Disorders – A Focused Review

(2012) Francisco Cardoso   Frontiers in Neurology

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

(2011) Jennifer Friedman et al.   ANNALS OF NEUROLOGY

Factors predicting protracted improvement after pallidal DBS for primary dystonia: the role of age and disease duration

(2011) Ioannis U. Isaias et al.   JOURNAL OF NEUROLOGY

Pallidal deep brain stimulation for DYT6 dystonia

(2011) Fedor Panov et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Inclusion and exclusion criteria for DBS in dystonia

(2011) Helen Bronte-Stewart et al.   MOVEMENT DISORDERS

Arm tremor in cervical dystonia-Is it a manifestation of dystonia or essential tremor?

(2011) Sarah Schiebler et al.   MOVEMENT DISORDERS

Pre-operative evaluations for DBS in dystonia

(2011) Stéphane Thobois et al.   MOVEMENT DISORDERS

The functional neuroanatomy of dystonia

(2011) Vladimir K. Neychev et al.   NEUROBIOLOGY OF DISEASE

Deep brain stimulation for dystonia: patient selection and outcomes

(2010) J. D. Speelman et al.   EUROPEAN JOURNAL OF NEUROLOGY

Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes

(2010) C. Andrews et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The diagnostic challenge of primary dystonia: Evidence from misdiagnosis

(2010) Stefania Lalli et al.   MOVEMENT DISORDERS

DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation

(2010) Justus L. Groen et al.   MOVEMENT DISORDERS

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

(2010) Simone Zittel et al.   MOVEMENT DISORDERS

Genomewide Association Studies and Assessment of the Risk of Disease

(2010) Teri A. Manolio   NEW ENGLAND JOURNAL OF MEDICINE

Should We Consider Vim Thalamic Deep Brain Stimulation for Select Cases of Severe Refractory Dystonic Tremor

(2010) Takashi Morishita et al.   STEREOTACTIC AND FUNCTIONAL NEUROSURGERY

Is this dystonia?

(2009) Alberto Albanese et al.   MOVEMENT DISORDERS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Clinical spectrum of ataxia-telangiectasia in adulthood

(2009) M.M.M. Verhagen et al.   NEUROLOGY

Abnormal structure-function relationships in hereditary dystonia

(2009) M. Carbon et al.   NEUROSCIENCE

Induction of Bradykinesia with Pallidal Deep Brain Stimulation in Patients with Cranial-Cervical Dystonia

(2009) Brian D. Berman et al.   STEREOTACTIC AND FUNCTIONAL NEUROSURGERY

Outcome predictors of pallidal stimulation in patients with primary dystonia: the role of disease duration

(2008) Ioannis U. Isaias et al.   BRAIN

The spectrum of disorders presenting as adult-onset focal lower extremity dystonia

(2008) Andrew McKeon et al.   PARKINSONISM & RELATED DISORDERS