Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome
出版年份 2021 全文链接
标题
Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome
作者
关键词
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出版物
Frontiers in Neurology
Volume 11, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2021-01-08
DOI
10.3389/fneur.2020.630391
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Pallidal lead placement in dystonia: leads of non-responders are contained within an anatomical range defined by responders
- (2020) Simone Zittel et al. JOURNAL OF NEUROLOGY
- Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis
- (2020) Carlo Alberto Artusi et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data
- (2020) Xin Wang et al. NEUROSURGICAL REVIEW
- ANO3 Mutations in Chinese Dystonia: A Genetic Screening Study Using Next-Generation Sequencing
- (2020) Shanglin Li et al. Frontiers in Neurology
- Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report
- (2020) Yuri Yamashita et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort
- (2020) Takashi Tsuboi et al. Frontiers in Human Neuroscience
- Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series
- (2020) Ana Luísa de Almeida Marcelino et al. JOURNAL OF NEUROLOGY
- Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants
- (2020) Xin-yao Li et al. PARKINSONISM & RELATED DISORDERS
- Pulse Width and Implantable Pulse Generator Longevity in Pallidal Deep Brain Stimulation for Dystonia: A Population-Based Comparative Effectiveness Study
- (2020) Richard Ågren et al. STEREOTACTIC AND FUNCTIONAL NEUROSURGERY
- Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
- (2020) Dora Steel et al. ANNALS OF NEUROLOGY
- Whispering dysphonia in TUBB4A ‐related disorders responsive to bipallidal deep brain stimulation
- (2020) Cécile Delorme et al. EUROPEAN JOURNAL OF NEUROLOGY
- Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia
- (2020) Chun Seng Phua et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Novel GNAL mutation in an Indian patient with generalized dystonia and response to deep brain stimulation
- (2019) Sanjay Pandey et al. PARKINSONISM & RELATED DISORDERS
- Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation
- (2019) Anna Marcé-Grau et al. PARKINSONISM & RELATED DISORDERS
- Role of ANO3 mutations in dystonia: A large-scale mutational screening study
- (2019) Luisa Olschewski et al. PARKINSONISM & RELATED DISORDERS
- A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism
- (2019) Ana Westenberger et al. ANNALS OF NEUROLOGY
- Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation
- (2019) Alberto Benato et al. JOURNAL OF NEURAL TRANSMISSION
- Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation
- (2019) Hannah F. Jones et al. MOVEMENT DISORDERS
- Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
- (2019) Hormos Salimi Dafsari et al. JOURNAL OF HUMAN GENETICS
- Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study
- (2019) Miryam Carecchio et al. MOVEMENT DISORDERS
- Deep brain stimulation shows high efficacy in two patients with GCH1 variants
- (2019) Kensuke Daida et al. PARKINSONISM & RELATED DISORDERS
- Quality of life outcomes after deep brain stimulation in dystonia: A systematic review
- (2019) Takashi Tsuboi et al. PARKINSONISM & RELATED DISORDERS
- A South African family with myoclonus-dystonia syndrome with a novel mutation in the SGCE gene responding to deep brain stimulation
- (2019) Riaan van Coller et al. PARKINSONISM & RELATED DISORDERS
- Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
- (2019) Kishore R. Kumar et al. PARKINSONISM & RELATED DISORDERS
- Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement
- (2019) Annika Danielsson et al. Journal of Clinical Medicine
- Myoclonus-dystonia
- (2018) Emmanuel Roze et al. CURRENT OPINION IN NEUROLOGY
- Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
- (2018) Inger Marie Skogseid et al. Journal of Neurodevelopmental Disorders
- Phenotype variability and allelic heterogeneity in KMT2B -Associated disease
- (2018) Toshitaka Kawarai et al. PARKINSONISM & RELATED DISORDERS
- Long-term outcomes of pallidal deep brain stimulation in X-linked dystonia parkinsonism (XDP): Up to 84 months follow-up and review of literature
- (2018) Joshua Emmanuel E. Abejero et al. PARKINSONISM & RELATED DISORDERS
- Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment
- (2018) Zuzana Kosutzka et al. MOVEMENT DISORDERS
- Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation
- (2018) Harini Sarva et al. MOVEMENT DISORDERS
- Deep brain stimulation in pediatric dystonia: a systematic review
- (2018) Andrew T. Hale et al. NEUROSURGICAL REVIEW
- Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up
- (2018) Yu-Qing Zhang et al. World Neurosurgery
- Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism
- (2018) Norbert Brüggemann et al. JAMA Neurology
- Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta-analysis
- (2017) E. Moro et al. EUROPEAN JOURNAL OF NEUROLOGY
- Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing
- (2017) H. A. Jinnah et al. JOURNAL OF NEURAL TRANSMISSION
- Failure of pallidal deep brain stimulation in DYT12-ATP1A3 dystonia
- (2017) Alberto Albanese et al. PARKINSONISM & RELATED DISORDERS
- Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon inTAF1
- (2017) D. Cristopher Bragg et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11
- (2017) Jia-Wei Wang et al. Scientific Reports
- Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up
- (2016) G. Fernández-Pajarín et al. ACTA NEUROCHIRURGICA
- Haploinsufficiency of KMT2B , Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
- (2016) Michael Zech et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis
- (2016) Sanem Yilmaz et al. CHILDS NERVOUS SYSTEM
- Early deep brain stimulation in patients with myoclonus-dystonia syndrome
- (2016) Helena Rocha et al. JOURNAL OF CLINICAL NEUROSCIENCE
- PRKRAMutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family
- (2016) Marialuisa Quadri et al. MOVEMENT DISORDERS
- Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up
- (2016) Michael Zech et al. MOVEMENT DISORDERS
- Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
- (2016) Esther Meyer et al. NATURE GENETICS
- Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype
- (2016) Miryam Carecchio et al. PARKINSONISM & RELATED DISORDERS
- Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene
- (2015) Bahattin Tanrıkulu et al. ACTA NEUROCHIRURGICA
- Different clinical course of pallidal deep brain stimulation for phasic- and tonic-type cervical dystonia
- (2015) Moonyoung Chung et al. ACTA NEUROCHIRURGICA
- A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
- (2015) Niccolo E. Mencacci et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation
- (2015) Neil Kulkarni et al. JOURNAL OF CHILD NEUROLOGY
- Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation
- (2015) P. Krause et al. JOURNAL OF NEUROLOGY
- Mosaic dominantTUBB4Amutation in an inbred family with complicated hereditary spastic paraplegia
- (2015) Dahlia Kancheva et al. MOVEMENT DISORDERS
- Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia
- (2015) N. Bruggemann et al. NEUROLOGY
- SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
- (2014) Kathryn J. Peall et al. JOURNAL OF NEUROLOGY
- Pallidal neurostimulation in patients with medication-refractory cervical dystonia: a randomised, sham-controlled trial
- (2014) Jens Volkmann et al. LANCET NEUROLOGY
- NovelGNALmutations in two German patients with sporadic dystonia
- (2014) Julia Ziegan et al. MOVEMENT DISORDERS
- Bilateral Globus Pallidus Interna Deep-Brain Stimulation in a Patient With Myoclonus-Dystonia: A Case Report
- (2014) Ji Hee Kim et al. NEUROMODULATION
- Deep Brain Stimulation of the Thalamic Ventral Lateral Anterior Nucleus for DYT6 Dystonia
- (2014) Hideo Mure et al. STEREOTACTIC AND FUNCTIONAL NEUROSURGERY
- Mutations inGNAL
- (2014) Kishore R. Kumar et al. JAMA Neurology
- A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
- (2013) Cas Simons et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The genetics of dystonia: new twists in an old tale
- (2013) Gavin Charlesworth et al. BRAIN
- Phenomenology and classification of dystonia: A consensus update
- (2013) Alberto Albanese et al. MOVEMENT DISORDERS
- Surgical treatment of myoclonus dystonia syndrome
- (2013) Anand I. Rughani et al. MOVEMENT DISORDERS
- Deep Brain Stimulation in DYT1 Dystonia
- (2013) Fedor Panov et al. NEUROSURGERY
- Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis
- (2012) Gavin Charlesworth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whispering dysphonia (DYT4 dystonia) is caused by a mutation in theTUBB4gene
- (2012) Katja Lohmann et al. ANNALS OF NEUROLOGY
- Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia
- (2012) Joshua Hersheson et al. ANNALS OF NEUROLOGY
- Deep brain stimulation for dystonia
- (2012) M. Vidailhet et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial
- (2012) Jens Volkmann et al. LANCET NEUROLOGY
- Mutations in GNAL cause primary torsion dystonia
- (2012) Tania Fuchs et al. NATURE GENETICS
- Bilateral Deep Brain Stimulation of the Pallidum for Myoclonus-Dystonia Due to ε-Sarcoglycan Mutations
- (2011) Julie Azoulay-Zyss et al. ARCHIVES OF NEUROLOGY
- Effect of Pallidal Deep Brain Stimulation on Psychiatric Symptoms in Myoclonus-Dystonia due to ε-Sarcoglycan Mutations
- (2011) Maria Fiorella Contarino ARCHIVES OF NEUROLOGY
- Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation
- (2011) B. C. Lim et al. EUROPEAN JOURNAL OF NEUROLOGY
- The Promise of Deep Brain Stimulation in X-Linked Dystonia Parkinsonism
- (2011) Jose A. Aguilar et al. INTERNATIONAL JOURNAL OF NEUROSCIENCE
- Mixed results for GPi-DBS in the treatment of cranio-facial and cranio-cervical dystonia symptoms
- (2011) Natlada Limotai et al. JOURNAL OF NEUROLOGY
- Pallidal deep brain stimulation for DYT6 dystonia
- (2011) Fedor Panov et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation
- (2011) Francisco Grandas et al. MOVEMENT DISORDERS
- Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
- (2011) Robert A. Wilcox et al. MOVEMENT DISORDERS
- Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
- (2010) L. Timmermann et al. BRAIN
- 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
- Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study
- (2010) Laura Cif 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
- Pallidal and thalamic deep brain stimulation in myoclonus-dystonia
- (2010) Doreen Gruber et al. MOVEMENT DISORDERS
- THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
- (2010) H. Houlden et al. NEUROLOGY
- Differential Response of Dystonia and Parkinsonism following Globus Pallidus Internus Deep Brain Stimulation in X-Linked Dystonia-Parkinsonism (Lubag)
- (2010) Genko Oyama et al. STEREOTACTIC AND FUNCTIONAL NEUROSURGERY
- Clinical and neurophysiological improvement of SGCE myoclonus–dystonia with GPi deep brain stimulation
- (2009) Monica M. Kurtis et al. CLINICAL NEUROLOGY AND NEUROSURGERY
- Pallidal stimulation in cervical dystonia: clinical implications of acute changes in stimulation parameters
- (2009) E. Moro et al. EUROPEAN JOURNAL OF NEUROLOGY
- Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot study
- (2009) Marie Vidailhet et al. LANCET NEUROLOGY
- Early and marked benefit with GPi DBS for Lubag syndrome presenting with rapidly progressive life-threatening dystonia
- (2009) Irene Martinez-Torres et al. MOVEMENT DISORDERS
- Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
- (2009) Tania Fuchs et al. NATURE GENETICS
- Long-term effects of pallidal deep brain stimulation in tardive dystonia
- (2009) D. Gruber et al. NEUROLOGY
- Outcome predictors of pallidal stimulation in patients with primary dystonia: the role of disease duration
- (2008) Ioannis U. Isaias et al. BRAIN
- Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration
- (2008) Mohamad A. Mikati et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
- (2008) Sarah Camargos et al. LANCET NEUROLOGY
- NOVEL ATP1A3 MUTATION IN A SPORADIC RDP PATIENT WITH MINIMAL BENEFIT FROM DEEP BRAIN STIMULATION
- (2008) C. Kamm et al. NEUROLOGY
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