Suchergebnisse - "Mitochondrial disease"

PubPharm (3.091)

71

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford : Coordination of Rare Diseases at Sanford

enthalten in: ClinicalTrials.gov | 2024

72

Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation

enthalten in: Brain : a journal of neurology | 2024

von Muñoz-Oreja, M. | Sandoval, A. | Bruland, O. | +23

73

Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics

enthalten in: Journal of mass spectrometry and advances in the clinical lab | 2024

von Kemperman, R. | Ganetzky, R. | Master, S.

74

MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases : Interest of Multi-omics (WES / RNA-Seq) Approach to Fight Against the Diagnostic Deadlock in Mitochondrial Diseases

enthalten in: ClinicalTrials.gov | 2024

75

Functional genomics and small molecules in mitochondrial neurodevelopmental disorders

enthalten in: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | 2024

von Calame, D. | Emrick, L.

76

OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION) : A Phase 2a Safety, Tolerability, and Pharmacodynamic Study of OMT-28 in PMD Patients With Myopathy and/or Cardiomyopathy and Inflammation (PMD-OPTION)

enthalten in: ClinicalTrials.gov | 2024

77

Biomarkers of mitochondrial disorders

enthalten in: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | 2024

von Shayota, B.

78

The genetic landscape of mitochondrial diseases in the next-generation sequencing era : a Portuguese cohort study

enthalten in: Frontiers in cell and developmental biology | 2024

von Nogueira, C. | Pereira, C. | Silva, L. | +20

79

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review

in: BMC Pediatrics | 2024

von Zhenkun Zhang | Xiaofan Bie | Zhehui Chen | +8

80

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

in: Orphanet Journal of Rare Diseases | 2024

von Firas Abu Hanna | Yoav Zehavi | Eran Cohen-Barak | +5