Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q38341164

about

Botulinum toxin type B for cervical dystonia Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management Benign hereditary chorea, not only chorea: a family case presentation Recent developments in dystonia.The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical Dystonia Patterns of Cortical Synchronization in Isolated Dystonia Compared With Parkinson Disease.Therapeutic advances in dystonia.Botulinum toxin type A versus botulinum toxin type B for cervical dystonia.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models Identification of a novel genetic locus underlying tremor and dystonia.Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.The premotor syndrome of cervical dystonia: Disordered processing of salient environmental stimuli.Botulinum toxin type A therapy for cervical dystonia.Rethinking status dystonicus.Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology.Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.Evolving concepts in the pathogenesis of dystonia.A Portuguese rapid-onset dystonia-parkinsonism case with atypical features.Dystonia.KMT2B: A new twist in dystonia genetics.The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).An Elderly Woman with Reversal of Clinical Presentation Mimicking Rapid-Onset Dystonia-Parkinsonism.Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options Youngest presenting patient with dystonia 24 and review of the literature

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

http://www.wikidata.org/entity/Q38341164

description

2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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2015年學術文章

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2015年學術文章

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name

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

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

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

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European Journal of Neurology

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

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B Balint

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K P Bhatia

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Mutations in TITF-1 are associated with benign hereditary chorea

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

The neural substrates of rapid-onset Dystonia-Parkinsonism.

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease

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610-617

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scholarly article

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10.1111/ENE.12650

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4

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22

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2015-01-29T00:00:00Z

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25643588

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