Suchergebnisse - "Mitochondrial disease"

PubPharm (3.091)

61

CrCest Study in Primary Mitochondrial Disease : Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

enthalten in: ClinicalTrials.gov | 2024

62

Dystonia in ATP Synthase Defects : Reconnecting Mitochondria and Dopamine

enthalten in: Movement disorders : official journal of the Movement Disorder Society | 2024

von Indelicato, E. | Boesch, S. | Mencacci, N. | +4

63

A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia : case report and literature review

enthalten in: Neurogenetics | 2024

von Kojima, F. | Okamoto, Y. | Ando, M. | +7

64

MSeqDR Quick-Mitome (QM) : Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis

enthalten in: Current protocols | 2024

von Shen, L. | Falk, M. | Gai, X.

65

Mitochondrial Chronic Progressive External Ophthalmoplegia

enthalten in: Brain sciences | 2024

von Ali, A. | Esmaeil, A. | Behbehani, R.

66

A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy : Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy

enthalten in: ClinicalTrials.gov | 2024

67

Dystonia and Parkinsonism in COA7-related disorders : expanding the phenotypic spectrum

enthalten in: Journal of neurology | 2024

von Higuchi, Y. | Ando, M. | Kojima, F. | +13

68

Applications of near-infrared spectroscopy in epilepsy, with a focus on mitochondrial disorders

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

von Khaksari, K. | Chen, W. | Chanvanichtrakool, M. | +3

69

Human mtDNA-Encoded Long ncRNAs : Knotty Molecules and Complex Functions

enthalten in: International journal of molecular sciences | 2024

von Bruni, F.

70

EPI-743 for Mitochondrial Respiratory Chain Diseases : Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care

enthalten in: ClinicalTrials.gov | 2024