Cornelia Kornblum Selected Research

glycogenin

1/2020	Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
12/2014	A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

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Cornelia Kornblum Research Topics

Disease

8	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 04/2008
4	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2019 - 05/2003
3	Glycogen Storage Disease Type II (Pompe's Disease) 01/2022 - 09/2012
3	Muscular Diseases (Myopathy) 01/2016 - 12/2014
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2023 - 05/2016
2	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 11/2021 - 01/2021
2	Atrophy 01/2021 - 06/2020
2	Cerebellar Ataxia (Dysmetria) 06/2020 - 05/2016
2	Cardiomyopathies (Cardiomyopathy) 01/2020 - 01/2016
2	Body Weight (Weight, Body) 01/2018 - 08/2006
2	Myoclonic Epilepsies (Myoclonic Encephalopathy) 05/2016 - 09/2008
1	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 04/2024
1	Arthrogryposis 10/2023
1	Inclusion Body Myositis 09/2023
1	Stroke (Strokes) 02/2023
1	Ischemic Stroke 02/2023
1	Fatigue 01/2023
1	Distal Myopathies (Distal Muscular Dystrophy) 01/2021
1	Encephalitis (Encephalitis, Rasmussen) 12/2020
1	Neurologic Manifestations (Neurological Manifestations) 12/2020
1	Cerebellar Diseases (Cerebellar Syndrome) 12/2020
1	Breast Neoplasms (Breast Cancer) 06/2020
1	Multiple System Atrophy 06/2020
1	Myotonic Dystrophy (Dystrophia Myotonica) 08/2019
1	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 01/2018
1	Myoclonus (Nocturnal Myoclonus) 05/2016
1	Seizures (Absence Seizure) 05/2016
1	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 05/2016
1	Cytochrome-c Oxidase Deficiency 02/2016
1	Epilepsy (Aura) 02/2016
1	Epidermolysa bullosa simplex and limb girdle muscular dystrophy 01/2016
1	Muscular Dystrophies (Muscular Dystrophy) 01/2016
1	Autosomal Recessive Epidermolysis Bullosa Simplex 01/2016
1	AIDS-Related Complex (ARC) 12/2014
1	Glycogen Storage Disease (Glycogenosis) 12/2014
1	Hereditary Spastic Paraplegia 11/2013
1	1 Rippling muscle disease 03/2011
1	Liver Failure 09/2008
1	Oculopharyngeal Muscular Dystrophy 05/2007

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 09/2023 - 03/2011
7	Mitochondrial DNA (mtDNA)IBA 01/2021 - 05/2003
3	Protein Isoforms (Isoforms)IBA 10/2023 - 03/2011
3	GlycogenIBA 01/2020 - 12/2014
2	Valproic Acid (Depakote)FDA LinkGeneric 04/2024 - 09/2008
2	Cholinergic ReceptorsIBA 10/2023 - 01/2021
2	AntibodiesIBA 10/2023 - 12/2020
2	human GAA protein (Myozyme)FDA Link 01/2022 - 09/2012
2	Messenger RNA (mRNA)IBA 01/2021 - 01/2018
2	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 04/2005
2	Immunoglobulin G (IgG)IBA 12/2020 - 08/2006
2	glycogeninIBA 01/2020 - 12/2014
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2019 - 02/2016
2	Transfer RNA (tRNA)IBA 05/2016 - 04/2008
2	EnzymesIBA 02/2016 - 09/2008
2	Protein AggregatesIBA 01/2016 - 01/2016
2	DesminIBA 01/2016 - 01/2016
1	Topiramate (Topamax)FDA LinkGeneric 04/2024
1	Vigabatrin FDA Link 04/2024
1	Aminobutyrates (Aminobutyric Acid)IBA 04/2024
1	Transaminases (Aminotransferases)IBA 04/2024
1	RNA (Ribonucleic Acid)IBA 09/2023
1	Biomarkers (Surrogate Marker)IBA 02/2023
1	arginyl- 2,'6'- dimethyltyrosyl- lysyl- phenylalaninamideIBA 01/2023
1	Merozoite Surface Protein 1 (MSA1)IBA 01/2023
1	Retinaldehyde (Retinal)IBA 01/2022
1	idebenoneIBA 11/2021
1	Dihydrotachysterol (AT 10)IBA 01/2021
1	Eukaryotic Initiation Factor-2 (EIF 2)IBA 01/2021
1	Membrane Proteins (Integral Membrane Proteins)IBA 01/2021
1	Muscle Proteins (Muscle Protein)IBA 01/2021
1	Phospholipid Transfer ProteinsIBA 01/2021
1	metabotropic glutamate receptor type 1IBA 12/2020
1	N 30IBA 12/2020
1	Metabotropic Glutamate Receptors (Metabotropic Glutamate Receptor)IBA 12/2020
1	anti-amphiphysin autoantibodyIBA 06/2020
1	Hexachlorobenzene (HCB)IBA 06/2020
1	milk-derived factorIBA 08/2019
1	Asn Transfer RNAIBA 01/2019
1	Serum AlbuminIBA 01/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2018
1	Lysine (L-Lysine)FDA Link 05/2016
1	NucleotidesIBA 02/2016
1	PlectinIBA 01/2016
1	Glycogen Synthase (Synthase I)IBA 12/2014
1	polyglucosanIBA 12/2014
1	Phospholipases (Phospholipase)IBA 11/2013
1	CaveolinsIBA 03/2011
1	RNA Splice SitesIBA 03/2011
1	Caveolin 3IBA 03/2011
1	Val Transfer RNAIBA 04/2008
1	Tyr Transfer RNAIBA 04/2008
1	Ile Transfer RNAIBA 04/2008
1	Poly(A)-Binding Protein IIIBA 05/2007
1	Prednisolone (Predate)FDA LinkGeneric 08/2006
1	Intravenous Immunoglobulins (IVIG)FDA Link 08/2006
1	Cyclophosphamide (Cytoxan)FDA LinkGeneric 08/2006

Therapy/Procedure

2	Therapeutics 01/2023 - 01/2021
2	Enzyme Replacement Therapy 01/2022 - 09/2012
1	Thrombectomy 02/2023
1	Denervation 01/2021