Angela Abicht Selected Research

Thiamin Pyrophosphokinase (Thiamine Pyrophosphokinase)

1/2021

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.

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Angela Abicht Research Topics

Disease

12	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 05/2019 - 05/2002
5	Muscle Weakness 01/2020 - 09/2014
4	Mitochondrial Diseases (Mitochondrial Disease) 11/2018 - 02/2011
4	Infections 08/2012 - 11/2004
3	Muscular Diseases (Myopathy) 11/2021 - 09/2017
2	Cytochrome-c Oxidase Deficiency 01/2022 - 11/2010
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2022 - 01/2019
2	Epileptic Syndromes 07/2020 - 08/2012
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 10/2012
2	Liver Failure 01/2016 - 02/2011
2	Liver Diseases (Liver Disease) 01/2016 - 01/2011
2	Respiratory Insufficiency (Respiratory Failure) 10/2006 - 11/2004
1	Aneuploidy (Aneuploid) 01/2022
1	Placental Insufficiency 01/2022
1	Anxiety Disorders (Anxiety Disorder) 01/2021
1	Brain Diseases (Brain Disorder) 01/2021
1	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease) 01/2021
1	Hemiplegia (Spastic Hemiplegia) 07/2020
1	Nicolaides Baraitser syndrome 01/2020
1	Vacuolar myopathy 01/2020
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018
1	Ventricular Premature Complexes (Premature Ventricular Contraction) 09/2017
1	Type 2G Limb-Girdle Muscular Dystrophy 09/2017
1	Cardiomyopathies (Cardiomyopathy) 09/2017
1	Nausea 05/2017
1	Lactic Acidosis 05/2017
1	Stroke (Strokes) 04/2017
1	Neuropathy ataxia and retinitis pigmentosa 01/2016
1	Nervous System Diseases (Neurological Disorders) 10/2015
1	Myotonia Congenita (Thomsen Disease) 06/2015
1	Myotonia 06/2015
1	Distal Myopathies (Distal Muscular Dystrophy) 09/2014
1	Neuromuscular Junction Diseases 09/2014
1	Atrophy 09/2014
1	Type 2 Episodic Ataxia 12/2013
1	Rhabdomyolysis 12/2012
1	Myalgia 12/2012
1	Epilepsy (Aura) 12/2012
1	Glioma (Gliomas) 08/2012
1	Infectious Encephalitis 08/2012
1	Disease Progression 08/2012
1	MELAS Syndrome (Syndrome, MELAS) 05/2012
1	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 05/2012

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 01/2019 - 03/2003
5	Mitochondrial DNA (mtDNA)IBA 11/2018 - 05/2009
4	Cholinergic ReceptorsIBA 07/2013 - 05/2002
3	Cholinesterase Inhibitors (Anticholinesterases)IBA 05/2019 - 11/2004
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2022 - 11/2010
2	Creatine Kinase (Creatine Phosphokinase)IBA 01/2019 - 09/2017
2	EnzymesIBA 06/2015 - 02/2011
2	Choline O-Acetyltransferase (Choline Acetyltransferase)IBA 03/2014 - 03/2003
2	peripheral membrane protein 43KIBA 10/2006 - 11/2004
1	dichlorobis(azomycin)platinum IIIBA 01/2022
1	MetallochaperonesIBA 01/2022
1	PlectinIBA 11/2021
1	nusinersenIBA 01/2021
1	Thiamin Pyrophosphokinase (Thiamine Pyrophosphokinase)IBA 01/2021
1	IronIBA 07/2020
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2020
1	Chloroquine (Aralen)FDA LinkGeneric 01/2020
1	AmifampridineIBA 01/2020
1	Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric 01/2020
1	ElementsIBA 01/2019
1	Peptides (Polypeptides)IBA 01/2019
1	2,2,2',4'-tetrachloroacetophenoneIBA 01/2018
1	Verapamil (Calan)FDA LinkGeneric 09/2017
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 05/2017
1	Adenosine DeaminaseIBA 04/2017
1	Myosins (Myosin)IBA 01/2016
1	Adenosine Triphosphate (ATP)IBA 01/2016
1	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate ElevationIBA 10/2015
1	Transaminases (Aminotransferases)IBA 06/2015
1	MicroRNAs (MicroRNA)IBA 06/2015
1	Sodium Channels (Sodium Channel)IBA 06/2015
1	Chloride Channels (Chloride Channel)IBA 06/2015
1	AgrinIBA 09/2014
1	Proteoglycans (Proteoglycan)IBA 09/2014
1	muskIBA 01/2014
1	Albuterol (Salbutamol)FDA LinkGeneric 01/2014
1	Q-Type Calcium Channels (Q-Type Calcium Channel)IBA 12/2013
1	voltage-dependent calcium channel (P-Q type)IBA 12/2013
1	Quinine (Quinson)FDA Link 07/2013
1	Pharmaceutical PreparationsIBA 10/2012
1	alpha- Amino- 3- hydroxy- 5- methyl- 4- isoxazolepropionic Acid (AMPA)IBA 08/2012
1	AntigensIBA 08/2012
1	AntibodiesIBA 08/2012
1	gamma-Aminobutyric Acid (GABA)IBA 08/2012
1	Glutamate Decarboxylase (Decarboxylase, Glutamate)IBA 08/2012
1	AcidsIBA 08/2012
1	N-Methylaspartate (NMDA)IBA 08/2012
1	Glutamate Receptors (Glutamate Receptor)IBA 08/2012
1	GABA-B ReceptorsIBA 08/2012
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 08/2012
1	AutoantibodiesIBA 08/2012
1	Leu Transfer RNAIBA 05/2012
1	Lys Transfer RNAIBA 05/2012

Therapy/Procedure

5	Therapeutics 01/2020 - 07/2010
1	Injections 01/2021
1	Transplantation 01/2016
1	Immunotherapy 08/2012