214 results on '"Sue, Carolyn M."'
Search Results
2. Genome sequencing reanalysis increases the diagnostic yield in dystonia
3. The pathogenesis of Parkinson's disease
4. Pharmacological rescue of mitochondrial and neuronal defects in SPG7 hereditary spastic paraplegia patient neurons using high throughput assays
5. Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review
6. 2622 Refining a hereditary spastic paraplegia quality of life (HSPQoL) rating scale using consumer consultation
7. 14 Peripheral blood mononuclear cells from patients withSPASThereditary spastic paraplegia (HSP-SPAST) show disease-associated effect of reduced acetylated α-tubulin
8. Genetic Testing in Parkinson's Disease
9. Generation of human-induced pluripotent-stem-cell-derived cortical neurons for high-throughput imaging of neurite morphology and neuron maturation
10. Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
11. SUE, Carolyn: Sydney/Australia
12. Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs
13. NEMoE: a nutrition aware regularized mixture of experts model to identify heterogeneous diet-microbiome-host health interactions
14. Low disease risk and penetrance in Leber hereditary optic neuropathy
15. Mitochondrial diseases
16. Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
17. EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
18. Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
19. The Gut Microbiome in Parkinson’s Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies
20. Nutritional Intake and Gut Microbiome Composition Predict Parkinson’s Disease
21. Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygousYARS2pathogenic variants
22. Strong Predictive Algorithm of Pathogenesis-Based Biomarkers Improves Parkinson’s Disease Diagnosis
23. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
24. PINK1 signalling in neurodegenerative disease
25. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations
26. Cognitive Influences in Parkinson's Disease Patients and Their Caregivers: Perspectives From an Australian Cohort
27. NEMoE: A nutrition aware regularized mixture of experts model addressing diet-cohort heterogeneity of gut microbiota in Parkinson’s disease
28. The commercial genetic testing landscape for Parkinson's disease
29. Mitochondrial donation: is Australia ready?
30. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
31. Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia
32. 037 The gut microbiome in Parkinson’s disease: longitudinal insights into disease progression and the use of device-assisted therapies
33. 015 Gut microbiota and nutritional profiles of Parkinson’s disease patients
34. 091 The impact of device-assisted therapy initiation on the gut microbiome in Parkinson’s disease
35. PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson’s Disease
36. Mitochondrial disease in adults: recent advances and future promise
37. Charcot-Marie-Tooth Disease Type 1
38. Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
39. Neurofibromatosis Type 1
40. Myoclonus Epilepsy and Ragged Red Fiber (MERRF)
41. Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Syndrome
42. Incidental Findings in Genetic Testing
43. Huntington Disease
44. Hereditary Neuropathy with Liability to Pressure Palsies
45. Inherited Prion Diseases
46. Dopa-Responsive Dystonia
47. Coincidental Occurrence of Two Monogenic Disorders
48. The Myotonic Dystrophies
49. Leber Hereditary Optic Neuropathy
50. Sialidosis
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