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Kate Bushby Selected Research

Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)

1/2018Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
11/2017A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
4/2015Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.
12/2011Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.
2/2011Reverse engineering gene network identifies new dysferlin-interacting proteins.
1/2011A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
9/2010New aspects on patients affected by dysferlin deficient muscular dystrophy.
9/2009Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
12/2008Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
7/2008Caveolinopathy--new mutations and additional symptoms.
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Kate Bushby Research Topics

Disease

26Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
01/2022 - 06/2005
23Muscular Dystrophies (Muscular Dystrophy)
01/2018 - 02/2004
16Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2018 - 02/2004
14Muscular Diseases (Myopathy)
01/2018 - 01/2003
8Rare Diseases (Rare Disease)
01/2017 - 09/2011
7Cardiomyopathies (Cardiomyopathy)
10/2021 - 05/2009
5type 2B Limb-girdle muscular dystrophy
09/2015 - 06/2007
5Miyoshi myopathy
02/2011 - 03/2007
4Distal Myopathies (Distal Muscular Dystrophy)
11/2017 - 07/2008
4Type 2I Limb-Girdle Muscular Dystrophy
01/2014 - 02/2004
3Dysferlinopathy
01/2022 - 06/2005
3Disease Progression
09/2015 - 01/2013
3Myofibrillar Myopathy
03/2014 - 05/2009
3Muscle Weakness
01/2013 - 08/2007
3Scleroatonic muscular dystrophy
01/2013 - 06/2004
3Fibrosis (Cirrhosis)
11/2010 - 05/2009
3Limb-girdle muscular dystrophy type 2A
07/2009 - 02/2005
2Left Ventricular Dysfunction
12/2018 - 05/2009
2Cataract (Cataracts)
03/2017 - 01/2016
2Scoliosis
01/2017 - 01/2014
2Neuromuscular Diseases (Neuromuscular Disease)
04/2015 - 11/2013
2Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
07/2014 - 09/2009
2Contracture
05/2014 - 02/2005
2Bethlem myopathy
05/2014 - 04/2005
2Malignant Hyperthermia
02/2011 - 08/2007
2Central Core Myopathy (Central Core Disease)
02/2011 - 08/2007
2Limb-girdle muscular dystrophy type 2F
11/2010 - 12/2008
2Ophthalmoplegia (External Ophthalmoplegia)
07/2010 - 08/2007
2Nemaline Myopathies (Nemaline Myopathy)
09/2006 - 10/2002
2Spinal muscular atrophy with respiratory distress 1
12/2003 - 05/2002
1Vomiting
01/2022
1Respiratory Tract Infections (Respiratory Tract Infection)
01/2022
1Deglutition Disorders (Dysphagia)
01/2018
1Intellectual Disability (Idiocy)
03/2017
1Cognitive Dysfunction
03/2017
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
09/2015
1Myosin Storage Myopathy
07/2014
1Respiratory Insufficiency (Respiratory Failure)
03/2014
1Hereditary Myopathy with Early Respiratory Failure
03/2014
1X-Linked Genetic Diseases
11/2013
1Walker-Warburg Syndrome
12/2011
1Muscular Atrophy (Muscle Atrophy)
01/2011

Drug/Important Bio-Agent (IBA)

17Proteins (Proteins, Gene)FDA Link
11/2017 - 02/2004
12DysferlinIBA
05/2013 - 06/2005
10DystrophinIBA
12/2021 - 05/2009
8Adrenal Cortex Hormones (Corticosteroids)IBA
01/2022 - 11/2009
6Dystroglycans (Dystroglycan)IBA
01/2018 - 02/2004
5Creatine Kinase (Creatine Phosphokinase)IBA
09/2015 - 01/2005
5CollagenIBA
05/2014 - 06/2004
4Biomarkers (Surrogate Marker)IBA
10/2015 - 01/2013
4Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
06/2012 - 08/2007
3Prednisone (Sone)FDA LinkGeneric
01/2022 - 11/2012
3GlucocorticoidsIBA
12/2021 - 01/2016
3Pharmaceutical PreparationsIBA
10/2021 - 08/2011
3SteroidsIBA
05/2018 - 05/2009
3AntibodiesIBA
07/2014 - 12/2008
3CalciumIBA
02/2011 - 08/2007
3Sarcoglycans (beta Sarcoglycan)IBA
11/2010 - 12/2008
3CalpainIBA
07/2009 - 02/2005
2Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA
12/2018 - 05/2009
2ConnectinIBA
11/2017 - 03/2014
2Crystallins (Crystallin)IBA
01/2016 - 01/2011
2Myosin Light Chains (Myosin Essential Light Chain)IBA
09/2015 - 07/2014
2Phosphotransferases (Kinase)IBA
03/2014 - 01/2003
2eteplirsenIBA
08/2011 - 10/2009
2MorpholinosIBA
08/2011 - 10/2009
2Prednisolone (Predate)FDA LinkGeneric
01/2010 - 05/2009
2CytokinesIBA
06/2009 - 05/2009
2Immunoglobulins (Immunoglobulin)IBA
05/2009 - 12/2003
2Caveolin 3IBA
07/2008 - 03/2008
2nebulinIBA
09/2006 - 10/2002
1Phosphorus (Red Phosphorus)IBA
01/2022
1deflazacortIBA
01/2022
1Epidermal Growth Factor (EGF)IBA
01/2018
1Inositol (Myoinositol)IBA
03/2017
1phosphoinositide 5-phosphataseIBA
03/2017
1Mutant Proteins (Protein, Mutant)IBA
01/2016
1Diphosphonates (Bisphosphonates)IBA
01/2016
1Molecular Chaperones (Chaperone, Molecular)IBA
01/2016
1Heat-Shock Proteins (Heat-Shock Protein)IBA
01/2016
1Testosterone (Sustanon)FDA Link
12/2015
1Fatty Acid Binding Protein 3IBA
09/2015
1Troponin IIBA
09/2015
12,2,2',4'-tetrachloroacetophenoneIBA
04/2015
1Malate Dehydrogenase (Dehydrogenase, Malate)IBA
07/2014
1Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA
07/2014
1Cardiac MyosinsIBA
07/2014
1Carbonic Anhydrase IIIIBA
07/2014
1Fibronectins (Fibronectin)IBA
03/2014
1Phosphocreatine (Neoton)IBA
09/2013
1Adenosine Triphosphate (ATP)IBA
09/2013
1DesminIBA
06/2013
1MicroRNAs (MicroRNA)IBA
01/2013
1Interleukin-6 (Interleukin 6)IBA
02/2011
1Calcium Channels (Calcium Channel)IBA
01/2011
1Streptomycin (Streptomycin Sulfate)FDA Link
01/2011
1Anti-Bacterial Agents (Antibiotics)IBA
01/2011
1Chloride Channels (Chloride Channel)IBA
01/2011

Therapy/Procedure

13Therapeutics
12/2018 - 11/2010
1Enteral Nutrition (Feeding, Tube)
01/2014