39 results on '"Sue, Carolyn M."'
Search Results
2. Outcome measures for hereditary spastic paraplegia clinical trials: Learnings from an Australian HSP center
3. Functional hyperspectral imaging captures subtle details of cell metabolism in olfactory neurosphere cells, disease-specific models of neurodegenerative disorders
4. Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings
5. Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation – A neurophysiological study using excitability techniques
6. Olfactory Impairment in Older Adults Is Associated With Depressive Symptoms and Poorer Quality of Life Scores.
7. The gut microbiota: A novel therapeutic target in Parkinson's disease?
8. 3.: Microtubule dysfunction in whispering dysphonia (DYT4 dystonia).
9. 63.: Cortical dysfunction in hereditary spastic paraparesis patients with the spastin mutation.
10. 43.: Mitochondrial dysfunction in PINK1 mutant human olfactory neurospheres is rescued by overexpression of PGC-1a.
11. New insights into the complex role of mitochondria in Parkinson's disease.
12. 62. Rotenone toxicity in parkin mutated olfactory cell cultures.
13. 55. Mutations in PARK9 (ATP13A2) causing Kufor-Rakeb syndrome, provide insights into cellular dysfunction in Parkinson’s disease.
14. 227. Leber‘s hereditary optic neuropathy associated with multiple sclerosis.
15. 410: Autosomal dominant late-onset Parkinson’s disease due to a novel A1442P mutation in the LRRK2 gene.
16. 642: Population prevalence of patients with Parkinson’s disease in the Australian community.
17. 307: Prevalence of LRRK2 mutations in Australians with Parkinson’s Disease.
18. 70. A case series of intra-arterial embolectomy for acute ischemic stroke.
19. 57. Benign infantile cytochrome c oxidase deficiency myopathy: Reversible or not?
20. 56. Mitochondrial abnormalities in a new cell model of MNGIE syndrome.
21. 222. Mutation Analysis of Spastin (SPG4) in Patients with Hereditary Spastic Paraplegia.
22. 215. Pathogenic effects of novel mutations in ATP13A2 (PARK9) Causing Kufor-Rakeb Syndrome, an Autosomal Recessive Form of Early-onset Parkinsonism.
23. 117. Clinical, neurophysiological and genetic observations in kufor-rakeb syndrome: report of a new kindred with compound heterozygous mutations in the ATP13A2 Gene.
24. 439: Detection of large-scale deletions in mitochondrial DNA using DNA extracted from salivary samples.
25. 422: Abnormalities of gastrointestinal transit in MELAS syndrome.
26. 412: Measurement of clinical severity in patients with mitochondrial disease.
27. 411: Hsp60 gene mutations in patients with hereditary spastic paraplegia: A pilot study.
28. 409: Efficient screening method for PINK1 gene mutations using DHPLC.
29. 634: ATP synthesis and apoptosis in mitochondrial disorders.
30. 625: Mitochondrial DNA A1555G point mutation and age-related hearing loss.
31. 308: Olfactory stem cells can be used as cell model for neurological disease.
32. Beyond what the eye can see.
33. The broadening spectrum of mitochondrial disease: Shifts in the diagnostic paradigm.
34. Mitochondrial disease in adults: recent advances and future promise.
35. Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.
36. Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy.
37. Population prevalence of the MELAS A3243G mutation
38. LARS2 variations can cause lethal infantile multisystem failure.
39. ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome
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