253 results on '"Sue, Carolyn M."'
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2. Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
3. NEMoE: a nutrition aware regularized mixture of experts model to identify heterogeneous diet-microbiome-host health interactions
4. The pathogenesis of Parkinson's disease
5. Strong Predictive Algorithm of Pathogenesis-Based Biomarkers Improves Parkinson’s Disease Diagnosis
6. The impact of device-assisted therapies on the gut microbiome in Parkinson’s disease
7. Mitochondrial disease in adults: recent advances and future promise
8. Depression in Parkinson's disease: Perspectives from an Australian cohort
9. Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia
10. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
11. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
12. Gastrointestinal dysfunction in Parkinson’s disease
13. Maximizing benefits of the levodopa/carbidopa intestinal gel: Systematic considerations, challenging convention and individualizing approaches
14. Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
15. High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia
16. Serum FGF-21, GDF-15, and blood mtDNA copy number are not biomarkers of Parkinson disease
17. Movement disorders in mitochondrial disease
18. Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models
19. Functional hyperspectral imaging captures subtle details of cell metabolism in olfactory neurosphere cells, disease-specific models of neurodegenerative disorders
20. Pharmacological rescue of mitochondrial and neuronal defects in SPG7 hereditary spastic paraplegia patient neurons using high throughput assays.
21. Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.
22. Towards the optimal care of Parkinson's disease: A guide for GPs.
23. Genetic Testing in Parkinson's Disease.
24. Systematic review of cardiac electrical disease in Kearns–Sayre syndrome and mitochondrial cytopathy
25. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
26. Practical approaches to commencing device‐assisted therapies for Parkinson disease in Australia
27. Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs.
28. Olfactory impairment in older adults is associated with poorer diet quality over 5 years
29. Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation – A neurophysiological study using excitability techniques
30. Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson’s disease
31. Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia
32. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned
33. Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings
34. The role of ATP13A2 in Parkinsonʼs disease: Clinical phenotypes and molecular mechanisms
35. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia
36. Expanding the phenotype of GMPPB mutations
37. Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.
38. Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
39. Parkin western blotting is useful for identification of patients with Parkin-related Parkinsonʼs disease
40. Parkinsonʼs disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction
41. Parkinsonʼs disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes
42. Mutations in GNAL: A Novel Cause of Craniocervical Dystonia
43. The Gut Microbiome in Parkinson's Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies.
44. Nutritional Intake and Gut Microbiome Composition Predict Parkinson's Disease.
45. Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
46. Supplemental oxygen and muscle metabolism in mitochondrial myopathy patients
47. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
48. Frequency of the D620N Mutation in VPS35 in Parkinson Disease
49. Mitochondrial donation: is Australia ready?
50. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
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