72 results on '"Prokisch, H."'
Search Results
2. 408 Hyperkinetic and hypokinetic movement disorders – in pediatric clinical practice
3. Chapter 1 The Mitochondrial Proteome Database
4. Molecular diagnostics of Mendelian disorders via RNA sequencing
5. Childhood-onset Leigh syndrome transforming into an episodic weakness phenotype with axonal neuropathy caused by MT-ATP6 mutations
6. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
7. Novel GFM2 variants identified in two cases of early-onset mitochondrial disease cause impaired expression of mtDNA encoded OXPHOS subunits
8. A DNA methylation biomarker of alcohol consumption
9. Cofactor deficiency in mitochondrial diseases
10. Paroxysmal Dyskinesia in ECHS1 Defect with Globus Pallidus Lesions
11. Leukodystrophy with Calcifications and Central Nervous System Atrophy: Expansion of the Phenotypic Spectrum Regarding Autosomal Recessive AARS Mutations?
12. PP12.11 – 2550: Atypical forms of 4H leukodystrophy
13. PP03.3 – 2376: A non-classical clinical course of Barth syndrome (BTHS)
14. P149 – 2652: Neuroimaging findings in two common NBIA subtypes, PKAN and MPAN
15. PP03.1 – 3059: Mutations in ECHS1: A defect in a multifunctional enzyme causing a mitochondrial disorder
16. A high-protein diet reduces liver fat content and improves glomerular filtration rate in subjects with type 2 diabetes
17. Effects of an isocaloric high-protein diet on inflammatory status in type 2 diabetes
18. Leigh-Like Course of Progressive Encephalopathy Associated with ECHS1-Mutation— A Case Report
19. A Nonclassical Clinical Course of Barth Syndrome
20. Brown-Vialetto-Van Laere Syndrome: Clinical Course under High-Dose Riboflavin over 2 Years
21. Novel (ovario) leukodystrophy related to AARS2 mutations
22. SFP CO-68 - ACAD9 : rôle dual dans le métabolisme énergétique mitochondrial
23. A common atopy‐associated variant in the Th2 cytokine locus control region impacts transcriptional regulation and alters SMAD3 and SP1 binding
24. Bezafibrate as treatment option in patients with mitochondrial complex I deficiency
25. Thiamine-pyrophosphokinase-deficiency: Clinical and genotypic spectrum in 5 patients
26. Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases
27. Cofactor defects as a cause of mitochondrial encephalomyopathies
28. Sengers syndrome is caused by a deficiency of the acylglycerol kinase
29. O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder
30. Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) - an integrated strategy under FP7 to improve research, treatment, and care in neurodegeneration with brain iron accumulation
31. The German network for mitochondrial disorders (mitoNET)
32. Clinical symptoms of six children with thiamin pyrophosphokinase deficiency
33. Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype
34. Exome sequencing in 30 neurodegeneration with brain iron accumulation patients
35. Band-like calcification with simplified gyration and polymicrogyria: further delineation of phenotype and review of literature
36. Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing
37. Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)
38. Exomdiagnostik verändert die Sicht auf Mitochondriopathien
39. C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
40. Mitochondrial Encephalopathies caused by defective mitochondrial translation
41. Transcriptomics und Typ-2-Diabetes
42. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
43. „Next generation sequencing“
44. Mitochondriopathien
45. Assoziation zwischen der genomweiten Genexpression im humanen Vollblut und Nüchtern- sowie 2-Stunden-Glukose: KORA F4 Studie
46. Large-scale mutation screening in combination with lentiviral complementation of rare variants aid gene identification in mitochondrial disorders
47. Biochemical and genetic testing in a large cohort of patients with suspicion of mitochondriopathy
48. Long-term outcome of children with cytochrome-C-oxidase-deficiency and SURF-1-mutation
49. Mitochondrial complex I deficiency – new diagnostic approaches allow better genetic characterisation of 150 patients
50. Identification of a second major locus for neurodegeneration with brain iron accumulation
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