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Rachel Thompson Selected Research

Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)

3/2024Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
9/2023Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
3/2019Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.

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Rachel Thompson Research Topics

Disease

9Neoplasms (Cancer)
04/2020 - 12/2010
6Cough
01/2019 - 01/2004
4COVID-19
01/2023 - 09/2022
3Muscular Diseases (Myopathy)
03/2024 - 03/2019
3Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
03/2024 - 03/2019
3Rare Diseases (Rare Disease)
11/2023 - 01/2017
3Stroke (Strokes)
01/2016 - 07/2011
3Myocardial Infarction
01/2016 - 07/2011
3Cardiovascular Diseases (Cardiovascular Disease)
01/2016 - 07/2011
2Hyperglycemia
02/2024 - 01/2013
2Low Back Pain (Lumbago)
11/2023 - 01/2023
2Muscle Weakness
07/2023 - 05/2023
2Pneumonia (Pneumonitis)
06/2023 - 01/2016
2Ulcerative Colitis
08/2021 - 02/2011
2Chronic Cough
01/2019 - 02/2007
2Obesity
06/2013 - 05/2011
2Barrett Esophagus (Barrett's Esophagus)
09/2011 - 12/2010
1Diabetes Mellitus
02/2024
1Back Pain (Backache)
11/2023
1Pain (Aches)
11/2023
1Chest Pain (Chest Pains)
07/2023
1Venous Thrombosis (Deep-Vein Thrombosis)
07/2023
1Dyspnea (Shortness of Breath)
07/2023
1Hemoptysis
07/2023
1Pulmonary Embolism
07/2023
1Morbid Obesity
07/2023
1Exanthema (Rash)
06/2023
1Atrial Fibrillation
06/2023
1Respiratory Insufficiency (Respiratory Failure)
06/2023
1Measles
05/2023
1Glioblastoma (Glioblastoma Multiforme)
01/2023
1Hemolytic-Uremic Syndrome
08/2021
1Alcoholism (Alcohol Abuse)
08/2021
1Thrombotic Microangiopathies
08/2021
1Vomiting
08/2021
1Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
08/2021
1Menorrhagia
01/2021
1Carcinogenesis
04/2020
1Endometriosis
04/2020
1Neuromuscular Diseases (Neuromuscular Disease)
01/2020
1Eye Diseases (Eye Disease)
08/2019
1Inborn Genetic Diseases (Disease, Hereditary)
03/2019
1Channelopathies
03/2019
1Dysgeusia (Parageusia)
01/2019
1Cataract (Cataracts)
05/2017
1Abscess
09/2015
1Scoliosis
01/2014
1Pancreatic Neoplasms (Pancreatic Cancer)
12/2013
1Intestinal Diseases (Diseases, Intestinal)
06/2013

Drug/Important Bio-Agent (IBA)

3Biomarkers (Surrogate Marker)IBA
04/2020 - 12/2013
3Dietary Fats (Dietary Fat)IBA
01/2016 - 07/2011
3CholesterolIBA
01/2016 - 07/2011
3Citric Acid (Citrate)FDA LinkGeneric
05/2008 - 01/2004
2Insulin (Novolin)FDA Link
02/2024 - 01/2013
2Glucose (Dextrose)FDA LinkGeneric
02/2024 - 01/2013
2Proteasome Endopeptidase Complex (Proteasome)IBA
07/2023 - 05/2023
2SDMIBA
01/2023 - 01/2021
2COVID-19 VaccinesIBA
10/2022 - 09/2022
2Proteins (Proteins, Gene)FDA Link
01/2017 - 02/2011
2Coloring Agents (Dyes)IBA
09/2015 - 12/2010
2Capsaicin (Zostrix)FDA Link
12/2014 - 02/2011
2Dextromethorphan (Racemethorphan)FDA LinkGeneric
12/2014 - 05/2008
2Antitussive Agents (Antitussives)FDA Link
05/2008 - 02/2007
1DesminIBA
03/2024
1Hemoglobins (Hemoglobin)IBA
02/2024
1BenzodiazepinesIBA
11/2023
1Opioid Analgesics (Opioids)IBA
11/2023
1Mitogen-Activated Protein KinasesIBA
11/2023
1muskIBA
09/2023
1Cholinesterase Inhibitors (Anticholinesterases)IBA
09/2023
1Adrenergic Agonists (Adrenergic Receptor Agonist)IBA
09/2023
1Oxygen (Dioxygen)IBA
07/2023
1Diltiazem (Cardizem)FDA LinkGeneric
06/2023
1Fibronectins (Fibronectin)IBA
05/2023
1Anion Exchange ResinsIBA
05/2023
1Glycine (Aminoacetic Acid)FDA LinkGeneric
01/2023
1benzoyl L-arginine methyl ester (BAME)IBA
11/2022
1VaccinesIBA
09/2022
1CoffeeFDA Link
08/2021
1Shiga Toxin (Shigella Toxin)IBA
08/2021
1Complement System Proteins (Complement)IBA
12/2020
1ConnectinIBA
01/2020
1Retinaldehyde (Retinal)IBA
08/2019
1VitaminsIBA
03/2019
1EnzymesIBA
03/2019
1GefapixantIBA
01/2019
1Adenosine Triphosphate (ATP)IBA
01/2019
1SilverIBA
09/2015
1butamirateIBA
12/2014
1STAT3 Transcription Factor (Signal Transducer and Activator of Transcription 3)IBA
12/2013
1Anti-Bacterial Agents (Antibiotics)IBA
06/2013

Therapy/Procedure

7Therapeutics
11/2023 - 02/2007
2Length of Stay
02/2024 - 06/2023
1Arthroplasty
07/2023
1Ambulatory Care (Outpatient Care)
01/2023
1Plasmapheresis
08/2021
1Treatment Delay
12/2020
1Noninvasive Ventilation
05/2017
1Catheters
01/2016
1Enteral Nutrition (Feeding, Tube)
01/2014