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Katrin Õunap Selected Research
Katrin Õunap Research Topics
Disease
12
Intellectual Disability (Idiocy)
01/2021 - 02/2015
6
Neurodevelopmental Disorders
11/2021 - 01/2019
3
Seizures (Absence Seizure)
01/2021 - 11/2018
3
Mitochondrial Diseases (Mitochondrial Disease)
12/2016 - 09/2011
2
Cysts
01/2021 - 10/2016
2
Leukoencephalopathies
01/2021 - 10/2016
2
Dystonia (Limb Dystonia)
01/2021 - 11/2020
2
Muscle Hypotonia (Hypotonia)
01/2021 - 01/2021
2
Phenylketonurias (Phenylketonuria)
01/2020 - 06/2019
2
Brain Diseases (Brain Disorder)
01/2019 - 02/2015
2
Congenital Disorders of Glycosylation
01/2018 - 06/2017
1
Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
10/2022
1
Inborn Genetic Diseases (Disease, Hereditary)
10/2021
1
Trisomy (Trisomies)
10/2021
1
Obesity
01/2021
1
Rare Diseases (Rare Disease)
01/2021
1
Floating-harbor syndrome
01/2021
1
Language Development Disorders (Semantic-Pragmatic Disorder)
01/2021
1
Neurologic Manifestations (Neurological Manifestations)
12/2020
1
Neoplasms (Cancer)
12/2020
1
Neurodegenerative Diseases (Neurodegenerative Disease)
12/2020
1
Carcinogenesis
12/2020
1
Peripheral Nervous System Diseases (PNS Diseases)
01/2020
1
Autism Spectrum Disorder
01/2020
1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2019
1
Autistic Disorder (Autism)
01/2019
1
Hypogonadism (Hypergonadotropic Hypogonadism)
01/2019
1
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
01/2019
1
Microcephaly
01/2019
1
Status Epilepticus (Complex Partial Status Epilepticus)
11/2018
1
Vitamin B 12 Deficiency (Vitamin B12 Deficiency)
06/2018
1
Disease Progression
01/2018
1
Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
01/2018
1
Cytochrome-c Oxidase Deficiency
01/2018
1
Hyperekplexia
11/2017
1
Galactosemias (Galactosemia)
01/2017
1
Infantile Epileptic-Dyskinetic Encephalopathy
12/2016
1
Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
10/2016
1
Cardiomyopathies (Cardiomyopathy)
10/2016
1
Mitochondrial Myopathies (Mitochondrial Myopathy)
10/2016
1
Cerebral Small Vessel Diseases
10/2016
1
Type 2 Episodic Ataxia
01/2016
1
Epilepsy (Aura)
01/2016
1
Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2016
1
Migraine with Aura (Familial Hemiplegic Migraine)
01/2016
1
Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
09/2015
1
Cataract (Cataracts)
02/2015
1
Leukemia
02/2015
1
Atrophy
02/2015
1
Movement Disorders (Movement Disorder)
02/2015
1
Neutropenia
02/2015
Drug/Important Bio-Agent (IBA)
7
Proteins (Proteins, Gene)
FDA Link
01/2021 - 06/2017
2
Kainic Acid Receptors (Kainate Receptor)
IBA
11/2021 - 01/2021
2
Small Nucleolar RNA (snoRNA)
IBA
01/2021 - 10/2016
2
Histones (Histone)
IBA
12/2020 - 01/2019
2
Enzymes
IBA
11/2020 - 05/2015
2
Messenger RNA (mRNA)
IBA
01/2020 - 02/2015
2
Transcription Factors (Transcription Factor)
IBA
01/2020 - 01/2019
2
O-GlcNAc transferase
IBA
01/2020 - 01/2020
2
Chromatin
IBA
12/2019 - 01/2019
2
Phenylalanine (L-Phenylalanine)
FDA Link
06/2019 - 01/2018
2
Biomarkers (Surrogate Marker)
IBA
06/2018 - 09/2011
2
Mitochondrial DNA (mtDNA)
IBA
12/2016 - 10/2016
1
Calpain
IBA
10/2022
1
DNA (Deoxyribonucleic Acid)
IBA
10/2021
1
Calcium
IBA
01/2021
1
Carrier Proteins (Binding Protein)
IBA
01/2021
1
2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridine
IBA
01/2021
1
purine
IBA
11/2020
1
Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)
IBA
01/2020
1
Nucleotides
IBA
01/2020
1
Fatty Acids (Saturated Fatty Acids)
IBA
01/2019
1
Amino Acids
FDA Link
01/2019
1
DNA Primase (Primase)
IBA
01/2019
1
DNA-Directed DNA Polymerase (Polymerases, DNA)
IBA
01/2019
1
phosphomannomutase
IBA
01/2019
1
Anticonvulsants (Antiepileptic Drugs)
IBA
11/2018
1
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
06/2018
1
Acetylcarnitine (Alcar)
IBA
06/2018
1
Palmitoylcarnitine
IBA
06/2018
1
propionylcarnitine
IBA
06/2018
1
Arginine (L-Arginine)
FDA Link
01/2018
1
Creatine
IBA
01/2018
1
Glycine (Aminoacetic Acid)
FDA Link
Generic
01/2018
1
Congenital disorder of glycosylation type 1A
IBA
01/2018
1
Adenosine Triphosphate (ATP)
IBA
01/2018
1
Acids
IBA
11/2017
1
Lipids
IBA
06/2017
1
Galactose (Galactopyranose)
FDA Link
Generic
01/2017
1
Cyclin-Dependent Kinases (cdk Proteins)
IBA
12/2016
1
ATP Translocases Mitochondrial ADP
IBA
10/2016
1
Guanine
IBA
01/2016
1
Nonsense Codon (Nonsense Mutation)
IBA
01/2016
1
Adenine
FDA Link
Generic
01/2016
1
Cytosine
IBA
01/2016
1
Silver
IBA
09/2015
1
3-methylglutaconic acid
IBA
02/2015
Therapy/Procedure
2
Therapeutics
01/2021 - 01/2018
1
Aftercare (After-Treatment)
06/2018
1
Mechanical Ventilators (Ventilator)
10/2016