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Kirsten Harvey Selected Research

DNA (Deoxyribonucleic Acid)

1/2015Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
4/2013Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
8/2012Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
7/2010Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

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Kirsten Harvey Research Topics

Disease

18Parkinson Disease (Parkinson's Disease)
05/2022 - 11/2005
10Hyperekplexia
01/2022 - 07/2003
4Stroke (Strokes)
05/2023 - 04/2020
3Intellectual Disability (Idiocy)
01/2019 - 09/2010
3Epilepsy (Aura)
01/2009 - 01/2004
2Ischemic Stroke
05/2023 - 03/2022
2Atrial Fibrillation
01/2021 - 04/2020
2Alzheimer Disease (Alzheimer's Disease)
01/2019 - 01/2019
2Dystonia (Limb Dystonia)
01/2014 - 09/2008
2Nervous System Diseases (Neurological Disorders)
01/2008 - 07/2006
1COVID-19
05/2024
1Encephalitis (Encephalitis, Rasmussen)
05/2023
1Corneal Injuries
07/2021
1Cicatrix (Scar)
07/2021
1Down Syndrome (Down's Syndrome)
01/2019
1Disease Susceptibility (Diathesis)
01/2016
1Neurodevelopmental Disorders
01/2015
1Movement Disorders (Movement Disorder)
01/2014
1X-Linked Mental Retardation (Mental Retardation, X Linked)
08/2011
1Seizures (Absence Seizure)
09/2010
1Sleep Initiation and Maintenance Disorders (Insomnia)
01/2009
1Nonketotic Hyperglycinemia
01/2008
1Neurodegenerative Diseases (Neurodegenerative Disease)
11/2007
1Mitochondrial Diseases (Mitochondrial Disease)
11/2007
1Inflammation (Inflammations)
05/2004
1Pain (Aches)
05/2004
1Molybdenum cofactor deficiency
07/2003

Drug/Important Bio-Agent (IBA)

12Proteins (Proteins, Gene)FDA Link
05/2023 - 07/2003
12Phosphotransferases (Kinase)IBA
01/2020 - 11/2007
9Leucine (L-Leucine)FDA Link
01/2020 - 01/2011
7Glycine Receptors (Glycine Receptor)IBA
01/2022 - 07/2003
6gephyrinIBA
01/2019 - 07/2003
4DNA (Deoxyribonucleic Acid)IBA
01/2015 - 07/2010
3GABA-A Receptors (GABA(A) Receptor)IBA
08/2011 - 09/2008
2GTP Phosphohydrolases (GTPases)IBA
01/2016 - 01/2014
2Protein Isoforms (Isoforms)IBA
01/2014 - 07/2003
2Glycine (Aminoacetic Acid)FDA LinkGeneric
08/2011 - 01/2008
2Nonsense Codon (Nonsense Mutation)IBA
01/2010 - 07/2006
2Glycine Plasma Membrane Transport ProteinsIBA
09/2008 - 07/2006
1LigandsIBA
05/2023
1Transferrin (beta 2 Transferrin)IBA
05/2022
1IronIBA
05/2022
1Anti-Bacterial Agents (Antibiotics)IBA
07/2021
1Moxifloxacin (Avelox)FDA Link
07/2021
1Ophthalmic Solutions (Eye Drops)IBA
07/2021
1Polylactic Acid-Polyglycolic Acid CopolymerIBA
07/2021
1pirfenidoneIBA
07/2021
1Povidone (Crospovidone)IBA
07/2021
1Biomarkers (Surrogate Marker)IBA
07/2021
1AnticoagulantsIBA
01/2021
1ClathrinIBA
01/2020
1Phosphatidylinositols (Phosphatidylinositol)IBA
01/2019
1RNA (Ribonucleic Acid)IBA
01/2019
1tau Proteins (tau Protein)IBA
01/2019
1CateninsIBA
01/2019
1Proteasome Endopeptidase Complex (Proteasome)IBA
01/2018
1Leucine-Rich Repeat ProteinsIBA
01/2014
1TubulinIBA
01/2014
1EnzymesIBA
01/2014
1Adenosine Triphosphatases (ATPase)IBA
01/2014
1gamma-Aminobutyric Acid (GABA)IBA
09/2010
1Ligand-Gated Ion ChannelsIBA
07/2010
1Mitochondrial Proteins (Mitochondrial Protein)IBA
11/2007
1High-Temperature Requirement A Serine Peptidase 2IBA
11/2007
1PTEN-induced putative kinaseIBA
07/2006
1glycine receptor alpha3 subunitIBA
05/2004
1Dinoprostone (PGE2)FDA Link
05/2004
1Phenytoin (Dilantin)FDA LinkGeneric
01/2004

Therapy/Procedure

4Therapeutics
07/2021 - 05/2004
1Telerehabilitation
05/2024
1Secondary Prevention
03/2022
1Topical Administration
07/2021