177 results on '"Ahting, Uwe"'
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2. Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11
3. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
4. Tom40, the Pore-Forming Component of the Protein-Conducting TOM Channel in the Outer Membrane of Mitochondria
5. The TOM Core Complex: The General Protein Import Pore of the Outer Membrane of Mitochondria
6. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
7. Spectrum of combined respiratory chain defects
8. Erratum: De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy (Brain (2020) 144 (411-419) DOI: 10.1093/brain/awaa410)
9. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
10. Classical MERRF phenotype associated with mitochondrial tRNALeu (m.3243A>G) mutation
11. MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome
12. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
13. Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis
14. Apocytochrome c requires the TOM complex for translocation across the mitochondrial outer membrane
15. Recognition of preproteins by the isolated TOM complex of mitochondria
16. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
17. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
18. Regulatory myeloid cells paralyze T cells through cell–cell transfer of the metabolite methylglyoxal
19. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
20. Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia
21. Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease
22. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
23. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
24. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?
25. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency:is riboflavin supplementation effective?
26. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
27. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
28. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum
29. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA
30. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
31. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
32. Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia
33. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
34. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
35. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
36. COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
37. Case report Adult, isolated respiratory chain complex IV deficiency with minimal manifestations
38. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
39. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
40. Der TOM-Core-Komplex und die kanalbildende Komponente Tom40 der Proteintranslokase der äußeren Mitochondrienmembran von Neurospora crassa
41. Correction: Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis
42. Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis
43. Mitochondrial Depletion Syndromes in Children and Adults
44. Adult mitochondrial DNA depletion syndrome with mild manifestations
45. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes includingNDUFB9
46. Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway
47. Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import
48. Adult, isolated respiratory chain complex IV deficiency with minimal manifestations.
49. Assessing Systems Properties of Yeast Mitochondria through an Interaction Map of the Organelle
50. Proteome analysis of mitochondrial outer membrane from Neurospora crassa
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