Pages that link to "Q28267025"

The following pages link to DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA (Q28267025):

Displaying 50 items.

• A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease (Q24645475) (← links)
• Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease (Q26991754) (← links)
• Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia (Q27315952) (← links)
• Missense mutation in the second RNA binding domain reveals a role for Prkra (PACT/RAX) during skull development (Q28478412) (← links)
• Increased c-fos expression in the central nucleus of the amygdala and enhancement of cued fear memory in Dyt1 DeltaGAG knock-in mice (Q30478968) (← links)
• Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia. (Q30483340) (← links)
• dystonia 16 (Q32038811) (← links)
• Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (Q33936459) (← links)
• Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of type 2 diabetes with cataract (Q33980583) (← links)
• The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. (Q34123651) (← links)
• Towards a complete resolution of the genetic architecture of disease (Q34143189) (← links)
• Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism. (Q34311667) (← links)
• Copy number variants in short children born small for gestational age. (Q34536372) (← links)
• dsRNA binding protein PACT/RAX in gene silencing, development and diseases (Q34788874) (← links)
• A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. (Q34805837) (← links)
• Pre-synaptic release deficits in a DYT1 dystonia mouse model. (Q34965241) (← links)
• Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models (Q35688598) (← links)
• MicroRNAs in Neural Stem Cells and Neurogenesis (Q35819878) (← links)
• Incidental medical information in whole-exome sequencing (Q35996752) (← links)
• Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT. (Q36049945) (← links)
• The protein activator of protein kinase R, PACT/RAX, negatively regulates protein kinase R during mouse anterior pituitary development (Q36469830) (← links)
• Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology (Q36522778) (← links)
• Limited regional cerebellar dysfunction induces focal dystonia in mice (Q36595038) (← links)
• Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias. (Q36634147) (← links)
• THAP1 mutations and dystonia phenotypes: genotype phenotype correlations (Q36876895) (← links)
• The genetics of dystonias (Q36934972) (← links)
• Recent advances in the genetics of dystonia (Q36950726) (← links)
• The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures (Q37215037) (← links)
• Movement disorders: insights into mechanisms and hopes for treatment (Q37350378) (← links)
• Movement disorders in children: recent advances in management (Q37494474) (← links)
• Genetics of primary torsion dystonia (Q37738133) (← links)
• EFNS guidelines on diagnosis and treatment of primary dystonias (Q37756221) (← links)
• Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations (Q37776461) (← links)
• Molecular pathways in dystonia (Q37816579) (← links)
• The Role of Protein Kinase R in the Interferon Response (Q37821934) (← links)
• Milestones in dystonia (Q37882600) (← links)
• Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. (Q37949772) (← links)
• Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease (Q38020089) (← links)
• Review: genetics and neuropathology of primary pure dystonia (Q38035007) (← links)
• Genetic diagnosis of hyperkinetic movement disorders (Q38088410) (← links)
• Diagnostic issues in childhood and adult dystonia. (Q38088762) (← links)
• The genetics of dystonia: new twists in an old tale (Q38115272) (← links)
• Emerging common molecular pathways for primary dystonia. (Q38124786) (← links)
• Parkinsonism and inborn errors of metabolism. (Q38218281) (← links)
• Dissecting the roles of TRBP and PACT in double-stranded RNA recognition and processing of noncoding RNAs (Q38335714) (← links)
• Isolated and combined dystonia syndromes - an update on new genes and their phenotypes (Q38341164) (← links)
• The genetics of the dystonias--a review based on the new classification of the dystonias. (Q38493644) (← links)
• Diagnostic and therapeutic potential of microRNAs in neuropsychiatric disorders: Past, present, and future. (Q38806729) (← links)
• Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force (Q38808532) (← links)
• Understanding dystonia: diagnostic issues and how to overcome them (Q39024386) (← links)