19 results on '"Sweeney, Mary G"'
Search Results
2. MFN2 deletion of exons 7 and 8: founder mutation in the UK population
3. Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop
4. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia
5. Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
6. COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood
7. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management
8. Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations
9. Toward a mtDNA locus-specific mutation database using the LOVD platform
10. Kearns–Sayre syndrome caused by defective R1/p53R2 assembly
11. An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family
12. An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description
13. Huntingtonʼs disease phenocopies are clinically and genetically heterogeneous
14. Macular Dystrophy Associated With the A3243G Mitochondrial DNA Mutation: Distinct Retinal and Associated Features, Disease Variability, and Characterization of Asymptomatic Family Members
15. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinsonʼs disease: clinical, pathological, olfactory and functional imaging and genetic data
16. Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
17. Parkinsonism and Nigrostriatal Dysfunction Are Associated With Spinocerebellar Ataxia Type 6 (Sca6)
18. Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4) gene
19. Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study
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