Saskia Koene Selected Research

Rare Diseases (Rare Disease)

11/2018

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.

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Saskia Koene Research Topics

Disease

8	Mitochondrial Diseases (Mitochondrial Disease) 01/2019 - 04/2011
2	Intellectual Disability (Idiocy) 11/2022 - 01/2021
2	Brain Diseases (Brain Disorder) 12/2021 - 07/2014
2	Mitochondrial complex I deficiency 01/2016 - 04/2011
1	Autistic Disorder (Autism) 12/2023
1	Hearing Loss (Hearing Impairment) 12/2022
1	Heart Diseases (Heart Disease) 12/2022
1	Clark-Baraitser syndrome 11/2022
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 12/2021
1	Muscular Dystrophies (Muscular Dystrophy) 08/2021
1	merosin negative Muscular dystrophy congenital 08/2021
1	Neurodevelopmental Disorders 01/2021
1	Cerebral Hemorrhage 01/2021
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021
1	Microcephaly 01/2021
1	Facies 01/2021
1	Migraine Disorders (Migraine) 03/2019
1	Rare Diseases (Rare Disease) 11/2018
1	Metabolic Diseases (Metabolic Disease) 03/2016
1	Fatigue 03/2016
1	Disease Progression 07/2014
1	Muscular Diseases (Myopathy) 07/2014

Drug/Important Bio-Agent (IBA)

4	Biomarkers (Surrogate Marker)IBA 11/2022 - 08/2013
2	fibroblast growth factor 21IBA 12/2021 - 07/2014
2	6- hydroxy- 2,5,7,8- tetramethylchroman- 2- carboxylic acid (Trolox)IBA 01/2019 - 10/2017
2	DNA (Deoxyribonucleic Acid)IBA 01/2016 - 04/2011
1	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 12/2023
1	Carrier Proteins (Binding Protein)IBA 12/2022
1	Phosphotransferases (Kinase)IBA 12/2022
1	Thyroid Hormone Receptors (Thyroid Hormone Receptor)IBA 11/2022
1	Laminin (Merosin)IBA 08/2021
1	ChromatinIBA 01/2021
1	CollagenIBA 01/2021
1	Transcription Factors (Transcription Factor)IBA 01/2021
1	Transfer RNA (tRNA)IBA 03/2019
1	Leucine (L-Leucine)FDA Link 03/2019
1	4-amino-4'-hydroxylaminodiphenylsulfone (HADS)IBA 03/2016
1	Mitochondrial DNA (mtDNA)IBA 03/2016
1	CalciumIBA 04/2011
1	Reactive Oxygen Species (Oxygen Radicals)IBA 04/2011

Therapy/Procedure

2	Therapeutics 11/2018 - 04/2011
1	Diet Therapy (Therapy, Diet) 04/2011