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Your search keyword '"Dystonic Disorders genetics"' showing total 981 results

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981 results on '"Dystonic Disorders genetics"'

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1. Adult-onset focal hand dystonia in aromatic L-amino acid decarboxylase deficiency.

2. Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease.

3. Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models.

4. From writer's cramp to blepharoclonus: An atypical journey with a novel KMT2B variant.

5. Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

6. CACNA1A variant associated with generalized dystonia.

7. Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a 3 tm1Ling/+ and Atp1a3 +/D801Y .

8. ZNF91 is an endogenous repressor of the molecular phenotype associated with X-linked dystonia-parkinsonism (XDP).

9. Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14.

10. Sex Differences in Dystonia.

11. Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.

12. Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.

13. Dopa-responsive dystonia and paroxysmal dystonic attacks associated with ATP1A3 gene variant.

14. Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism.

15. Genome sequencing reanalysis increases the diagnostic yield in dystonia.

17. Adult-onset YY1-associated combined dystonia syndrome with infantile nystagmus as a diagnostic clue.

18. Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.

19. Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

20. Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.

21. Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes.

22. Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications.

23. Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.

24. Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations.

25. Deep brain stimulation for pediatric pantothenate kinase-associated neurodegeneration with status dystonicus: A case report and literature review.

27. Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.

28. [Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].

30. Three-Dimensional Gait Analysis as a Biomarker for GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia.

31. Gender Differences in Task Specific Dystonia: What Can we Learn from Musician's Dystonia?

32. Disturbed brain energy metabolism in a rodent model of DYT-TOR1A dystonia.

33. Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.

34. Neuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers.

35. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.

36. Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.

37. The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis.

38. De novo p.Glu61Ter mutation in GCH1 in a Moroccan patient with dopa-responsive dystonia: a case report.

40. Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy.

41. Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model.

42. Recurrent MECR R258W causes adult-onset optic atrophy: A case report.

43. Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis.

44. Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.

46. Oral diadochokinetic markers of X-linked dystonia-parkinsonism.

47. Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India.

49. Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.

50. The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.

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