183 results on '"Distelmaier, F"'
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2. Phytanic acid impairs mitochondrial respiration through protonophoric action
3. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
4. Seasonal variation and atypical presentation of idiopathic intracranial hypertension in pre-pubertal children
5. Spezialisierte ambulante Palliativversorgung (SAPV) von Kindern mit schweren, irreversiblen, nicht progredienten Erkrankungen der TfSL (Together for Short Lives) Gruppe 4
6. Paraneoplastic limbic encephalitis with SOX1 and PCA2 antibodies and relapsing neurological symptoms in an adolescent with Hodgkin lymphoma
7. Childhood-onset Leigh syndrome transforming into an episodic weakness phenotype with axonal neuropathy caused by MT-ATP6 mutations
8. Reversible Epileptic Encephalopathy upon Uridine Treatment in Patients with CAD Mutations
9. Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency
10. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
11. Rare Causes of Childhood Stroke: A Single-Center Experience
12. Neuromyelitis optica and pregnancy during therapeutic B cell depletion: infant exposure to anti-AQP4 antibody and prevention of rebound relapses with low-dose rituximab postpartum
13. Cell biological consequences of Leigh disease
14. PP04.10 – 2544: Trichothiodystrophy presenting with cardiomyopathy and recurrent arterial ischemic strokes
15. Life cell quantification of mitochondrial membrane potential at the single organelle level
16. Trichothiodystrophy Presenting with Cardiomyopathy and Recurrent Stroke Episodes
17. Granulocyte Colony Stimulating Factor for Treatment of Neutropenia-associated Infection in Pearson Syndrome
18. Seltene Erkrankungen mit symmetrischer Beteiligung der Basalganglien
19. Neuromyelitis optica and pregnancy during therapeutic B cell depletion: infant exposure to anti-AQP4 antibody and prevention of rebound relapses with low-dose rituximab postpartum
20. A guide to diagnosis and treatment of Leigh syndrome
21. Transient ischemic attack in a 5-year-old girl due to focal vasculitis in neuroborreliosis
22. Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome
23. Recurrent fever episodes after treatment of a subdural empyema: persisting infection or autoimmunological reaction?
24. Pseudotumor Cerebri in Childhood and Adolescence - Results of a Germany-wide ESPED-survey
25. Sudden bilateral sensorineural deafness in a 5 years old girl with blue sclerae, keratoconus, hypermobility of the joints and hyperelasticity of the skin with a mutation in the ZNF469 gene encoding for Brittle-Cornea-Syndrome
26. Sedation of Children during Measurement of CSF Opening Pressure: Lack of Standardisation in German Children with Pseudotumor Cerebri
27. How do we sedate children undergoing CSF opening pressure measurement? Results of a Germany-wide survey
28. Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder
29. Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency☆
30. Probable idiopathic intracranial hypertension in pre-pubertal children
31. Fatal Hypertensive Crisis as Presentation of Mitochondrial Complex I Deficiency
32. Seasonal clustering of prepubertal idiopathic intracranial hypertension
33. Antiepileptic Treatment in Paediatric Oncology - An Interdisciplinary Challenge
34. Isoniazid intoxication clinically mimicking encephalitis with status epilepticus
35. Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
36. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
37. Riboflavin transporter deficiency in young adults unmasked by dietary changes.
38. Genetic landscape of pediatric acute liver failure of indeterminate origin.
39. mtDNA analysis using Mitopore.
40. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
41. Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.
42. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
43. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
44. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
45. Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders.
46. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
47. Neuroimaging in mitochondrial disease.
48. Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
49. Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene.
50. Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially.
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