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Stephanie Robb Selected Research

Muscle Weakness

8/2007Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

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Stephanie Robb Research Topics

Disease

3Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
12/2015 - 02/2013
3Muscular Diseases (Myopathy)
02/2015 - 08/2007
3Muscular Dystrophies (Muscular Dystrophy)
11/2010 - 10/2007
2Myasthenia Gravis
01/2020 - 06/2011
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
10/2020
1Muscle Hypotonia (Hypotonia)
01/2019
1Disease Progression
10/2015
1Cognitive Dysfunction
03/2015
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
03/2015
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
02/2015
1Hypertrophy
02/2015
1Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton Syndrome)
06/2011
1Epidermolysa bullosa simplex and limb girdle muscular dystrophy
11/2010
1Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara)
11/2010
1Polymicrogyria
11/2008
1Cysts
11/2008
1Muscle Weakness
08/2007
1Central Core Myopathy (Central Core Disease)
08/2007
1Ophthalmoplegia (External Ophthalmoplegia)
08/2007
1Malignant Hyperthermia
08/2007
1Congenital Structural Myopathies (Centronuclear Myopathy)
04/2007

Drug/Important Bio-Agent (IBA)

3Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
06/2012 - 04/2007
2Proteins (Proteins, Gene)FDA Link
12/2015 - 08/2007
2muskIBA
10/2015 - 06/2011
2AntibodiesIBA
02/2015 - 06/2011
2Dystroglycans (Dystroglycan)IBA
11/2008 - 10/2007
1Adrenal Cortex Hormones (Corticosteroids)IBA
10/2020
1Pharmaceutical PreparationsIBA
01/2020
1Fibrillar CollagensIBA
12/2015
1dolichol monophosphate (dolichyl phosphate)IBA
03/2015
1Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric
03/2015
1Cytoplasmic DyneinsIBA
02/2015
1Cholinergic ReceptorsIBA
02/2015
1Albuterol (Salbutamol)FDA LinkGeneric
02/2013
1Rituximab (Mabthera)FDA Link
06/2011
1Protein-Tyrosine Kinases (Tyrosine Kinase)IBA
06/2011
1PlectinIBA
11/2010
1protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
11/2008
1CalciumIBA
08/2007

Therapy/Procedure

1Nutritional Support (Artificial Feeding)
01/2019
1Denervation
02/2015
1Therapeutics
06/2011