36 results on '"Sue, Carolyn M."'
Search Results
2. Practical approaches to commencing device‐assisted therapies for Parkinson disease in Australia
3. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force
4. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned
5. Mutations in TUBB4A and spastic paraplegia
6. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy
7. The role of ATP13A2 in Parkinsonʼs disease: Clinical phenotypes and molecular mechanisms
8. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia
9. Expanding the phenotype of GMPPB mutations
10. Parkin western blotting is useful for identification of patients with Parkin-related Parkinsonʼs disease
11. Parkinsonʼs disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction
12. Parkinsonʼs disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes
13. Mutations in GNAL: A Novel Cause of Craniocervical Dystonia
14. Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
15. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
16. Frequency of the D620N Mutation in VPS35 in Parkinson Disease
17. Phenotypic variability of parkin mutations in single kindred
18. The phenotypic spectrum of dystonia in Mohr–Tranebjaerg syndrome
19. Two Faces of the Same Coin: Benign Familial Infantile Seizures and Paroxysmal Kinesigenic Dyskinesia Caused by PRRT2 Mutations
20. “Dancing feet dyskinesias”: A clue to parkin gene mutations
21. The Association Between Olfactory Impairment and Total Mortality in Older Adults
22. The Genetics of Mitochondrial Disease
23. Olfactory Impairment in Older Adults Is Associated With Depressive Symptoms and Poorer Quality of Life Scores
24. AXONAL HYPERPOLARIZATION IN INCLUSION-BODY MYOPATHY, PAGET DISEASE OF THE BONE, AND FRONTOTEMPORAL DEMENTIA (IBMPFD)
25. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, www.hgvs.org a form of early-onset parkinsonism
26. A NOVEL CLCN1 MUTATION (G1652A) CAUSING A MILD PHENOTYPE OF THOMSEN DISEASE
27. Prevalence of Mitochondrial 1555A→G Mutation in Adults of European Descent
28. Mitochondrial DNA haplogroups J and K are not protective for Parkinsonʼs disease in the Australian community
29. Mitochondrial DNA Haplogroups and Age-Related Hearing Loss
30. Mitochondrial DNA Haplogroups and Age-Related Maculopathy
31. Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinsonʼs Disease
32. Aerobic exercise and muscle metabolism in patients with mitochondrial myopathy
33. MITOCHONDRIAL DNA ABNORMALITIES AND AUTISTIC SPECTRUM DISORDERS
34. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
35. Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
36. Infantile encephalopathy associated with the MELAS A3243G mutation
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.