37 results on '"Multhaupt-Buell, Trisha"'
Search Results
2. Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
3. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
4. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1
5. Establishing a natural history of X-linked dystonia parkinsonism
6. Sustained activation in basal ganglia and cerebellum after repetitive movement in a non-task-specific dystonia
7. Myoclonus-Dystonia in an Individual with a Mutation in the GRIN2A Gene
8. Myoclonus-Dystonia in an Individual with a Mutation in the GRIN2A Gene.
9. Additional file 2 of Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
10. Additional file 1 of Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
11. Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
12. The dystonia gene THAP1 controls DNA double-strand break repair choice
13. Isolated Cervical Dystonia: Management and Barriers to Care
14. Mutation in 5′ upstream region of GCHI gene causes familial dopa-responsive dystonia
15. TAF1Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism
16. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations
17. White Matter Changes in Cervical Dystonia Relate to Clinical Effectiveness of Botulinum Toxin Treatment
18. TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism.
19. Disease onset in X-linked Dystonia-Parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1 (S30.005)
20. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
21. Dystonia‐Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia
22. Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias
23. Decreased N-TAF1 expression in X-Linked Dystonia-Parkinsonism patient-specific neural stem cells
24. Mutation in 5’upstream region of GCHI gene causes familial dopa-responsive dystonia
25. Thalamic Volume is Reduced in Multiple Types of Dystonia (S15.003)
26. Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. (P2.139)
27. Abnormal Transcallosal Motor Projections in Cervical Dystonia: An fMRI and Tractographic Analysis (S57.001)
28. Pallidal deep brain stimulation for dystonia: a case series
29. Correction: Dopa-Responsive Dystonia: Functional Analysis of Single Nucleotide Substitutions within the 5’ Untranslated GCH1 Region
30. Dopa-Responsive Dystonia: Functional Analysis of Single Nucleotide Substitutions within the 5’ Untranslated GCH1 Region
31. Evidence for Altered Basal Ganglia-Brainstem Connections in Cervical Dystonia
32. Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
33. Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status
34. Evidence for Altered Basal Ganglia-Brainstem Connections in Cervical Dystonia
35. Dopa-Responsive Dystonia: Functional Analysis of Single Nucleotide Substitutions within the 5’ Untranslated GCH1 Region.
36. Sustained activation in basal ganglia and cerebellum after repetitive movement in a non-task-specific dystonia.
37. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.