378 results on '"Alston, Charlotte L"'
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2. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
3. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
4. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
5. Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
6. Three families with ‘de novo’ m.3243A > G mutation
7. Dysferlin mutations and mitochondrial dysfunction
8. Mitochondrial dysfunction in myofibrillar myopathy
9. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
10. De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities
11. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
12. Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder
13. Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms
14. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
15. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease
16. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
17. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
18. Additional file 2 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics
19. De novo mtDNA point mutations are common and have a low recurrence risk
20. The genetics and pathology of mitochondrial disease
21. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency
22. Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy
23. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
24. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
25. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
26. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy
27. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations
28. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions
29. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
30. Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
31. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
32. The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant
33. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
34. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
35. The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines
36. Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy
37. Additional file 4 of Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
38. Additional file 2 of Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
39. Additional file 1 of Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
40. Additional file 3 of Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
41. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
42. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
43. Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNAGlu (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study
44. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
45. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
46. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
47. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
48. The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome
49. A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations†
50. Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I
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