164 results on '"Blakely, Emma"'
Search Results
2. Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease
3. POLRMT mutations impair mitochondrial transcription causing neurological disease
4. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
5. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
6. Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
7. Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness.
8. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency
9. Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy
10. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle
11. Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation
12. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
13. Clinical and Pathological Features of Mitochondrial DNA Deletion Disease Following Antiretroviral Treatment
14. Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
15. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
16. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
17. Disease progression in patients with single, large-scale mitochondrial DNA deletions
18. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies
19. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast
20. Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities
21. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
22. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
23. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
24. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
25. Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome
26. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3
27. Sensory neuronopathy in patients harbouring recessive polymerase γ mutations
28. A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations†
29. Mitochondrial Transfer RNAPhe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity
30. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
31. Isolated Distal Myopathy of the Upper Limbs Associated With Mitochondrial DNA Depletion and Polymerase γ Mutations
32. Pathogenic Mitochondrial tRNA Mutations - Which Mutations Are Inherited and Why?: Mutation in Brief
33. A New Mitochondrial Transfer RNAPro Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features
34. Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation
35. Resistance training in patients with single, large-scale deletions of mitochondrial DNA
36. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
37. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast
38. Childhood neurological presentation of a novel mitochondrial tRNA Val gene mutation
39. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
40. Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0
41. Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells.
42. Albinism and a mitochondrial DNA deletion.
43. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.
44. Recent advances in understanding the molecular genetic basis of mitochondrial disease.
45. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
46. Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
47. A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.
48. NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS--SAYRE SYNDROME.
49. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
50. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.