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Judith Armstrong Selected Research

Mainzer-Saldino Disease

12/2020IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.

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Judith Armstrong Research Topics

Disease

9Rett Syndrome (Rett's Disorder)
03/2022 - 01/2005
3Neurodevelopmental Disorders
02/2021 - 01/2013
2Gaucher Disease (Gaucher's Disease)
10/2021 - 01/2017
2Brain Diseases (Brain Disorder)
01/2019 - 01/2018
2Coenzyme Q10 Deficiency
01/2015 - 11/2014
2Myofibrillar Myopathy
02/2009 - 06/2007
1Inborn Genetic Diseases (Disease, Hereditary)
06/2022
1Parkinsonian Disorders (Parkinsonism)
10/2021
1Tremor (Tremors)
10/2021
1Neuromuscular Diseases (Neuromuscular Disease)
04/2021
1Lubs X-linked mental retardation syndrome
02/2021
1Disease Progression
02/2021
1Microcephaly
02/2021
1Menkes Kinky Hair Syndrome (Menkes Disease)
01/2021
1Occipital horn syndrome
01/2021
1Mainzer-Saldino Disease
12/2020
1Mood Disorders (Mood Disorder)
01/2019
1Maple Syrup Urine Disease
01/2019
1Inborn Urea Cycle Disorders
01/2019
1Kearns-Sayre Syndrome
11/2018
1Mitochondrial Diseases (Mitochondrial Disease)
11/2018
1Myoclonic Epilepsies (Myoclonic Encephalopathy)
11/2014
1Dysarthria (Spastic Dysarthria)
11/2014
1Ataxia (Dyssynergia)
11/2014
1Allan-Herndon-Dudley syndrome
10/2014
1Muscle Hypotonia (Hypotonia)
10/2014
1Hyperhomocysteinemia
01/2012
1Muscular Diseases (Myopathy)
06/2007
1Intellectual Disability (Idiocy)
01/2005

Drug/Important Bio-Agent (IBA)

3Biomarkers (Surrogate Marker)IBA
03/2022 - 01/2019
3RNA (Ribonucleic Acid)IBA
04/2021 - 08/2019
3Proteins (Proteins, Gene)FDA Link
01/2020 - 01/2005
2Biological ProductsIBA
10/2021 - 04/2021
2Brain-Derived Neurotrophic Factor (BDNF)IBA
11/2020 - 01/2019
2Methyl-CpG-Binding Protein 2IBA
11/2020 - 01/2013
2Serine (L-Serine)FDA Link
01/2019 - 01/2018
2Folic Acid (Vitamin M)FDA LinkGeneric
11/2018 - 01/2012
2coenzyme Q10 (CoQ10)IBA
01/2015 - 11/2014
1Protein SIBA
06/2022
1Circular RNAIBA
03/2022
1Levodopa (L Dopa)FDA LinkGeneric
10/2021
1GlucosidasesIBA
10/2021
1AcidsIBA
10/2021
1Interleukin-1 Receptor-Associated KinasesIBA
02/2021
1MicroRNAs (MicroRNA)IBA
02/2021
1Copper Transport ProteinsIBA
01/2021
1Retinaldehyde (Retinal)IBA
12/2020
1gamma-Aminobutyric Acid (GABA)IBA
01/2020
1Aminobutyrates (Aminobutyric Acid)IBA
01/2020
1Neurotransmitter Agents (Neurotransmitter)IBA
08/2019
1Messenger RNA (mRNA)IBA
01/2019
1Threonine (L-Threonine)FDA Link
01/2019
1Proline (L-Proline)FDA Link
01/2019
1Alanine (L-Alanine)FDA Link
01/2019
1PterinsIBA
11/2018
1Dopamine (Intropin)FDA LinkGeneric
11/2018
1Biogenic Amines (Biogenic Amine)IBA
11/2018
1Mitochondrial DNA (mtDNA)IBA
11/2018
1LipidsIBA
11/2014
1Glucose (Dextrose)FDA LinkGeneric
11/2014
1Hormones (Hormone)IBA
10/2014
1Triiodothyronine (Liothyronine)FDA LinkGeneric
10/2014
1Bumetanide (Bumex)FDA LinkGeneric
01/2013
1CationsIBA
01/2013
1ChloridesIBA
01/2013
1Glycine (Aminoacetic Acid)FDA LinkGeneric
01/2012
1creatine transporterIBA
01/2012
1X-linked Creatine deficiencyIBA
01/2012
1Arginine (L-Arginine)FDA Link
01/2012
1Protein AggregatesIBA
02/2009
1DesminIBA
06/2007
1Carrier Proteins (Binding Protein)IBA
05/2006

Therapy/Procedure

2Therapeutics
01/2017 - 01/2012
1Ketogenic Diet
11/2014