Kate Bushby mainly focuses on Muscular dystrophy, Genetics, Limb-girdle muscular dystrophy, Pathology and Duchenne muscular dystrophy. The subject of her Muscular dystrophy research is within the realm of Internal medicine. Her Limb-girdle muscular dystrophy study combines topics from a wide range of disciplines, such as Limb girdle, Dysferlin, Dysferlinopathy and Congenital muscular dystrophy.
Kate Bushby combines subjects such as ITGA7 and Cell biology with her study of Dysferlin. Her Pathology research is multidisciplinary, incorporating perspectives in Collagen VI, Dystroglycan, Muscle weakness, Gene mutation and Weakness. The study incorporates disciplines such as Nocturnal and Pediatrics in addition to Duchenne muscular dystrophy.
The scientist’s investigation covers issues in Muscular dystrophy, Duchenne muscular dystrophy, Genetics, Pathology and Limb-girdle muscular dystrophy. Her study explores the link between Muscular dystrophy and topics such as Exon that cross with problems in Molecular biology. Her work on Dystrophin as part of general Duchenne muscular dystrophy research is frequently linked to Exon skipping, thereby connecting diverse disciplines of science.
She works in the field of Pathology, focusing on Muscle biopsy in particular. Her work is dedicated to discovering how Limb-girdle muscular dystrophy, Anatomy are connected with Limb girdle and other disciplines. The concepts of her Internal medicine study are interwoven with issues in Endocrinology, Surgery and Cardiology.
Her primary areas of investigation include Duchenne muscular dystrophy, Internal medicine, Dysferlinopathy, Clinical trial and Disease. Her work carried out in the field of Duchenne muscular dystrophy brings together such families of science as Bisphosphonate, Osteoporosis, Physical therapy, Pediatrics and Cohort. Her biological study spans a wide range of topics, including Surgery and Cardiology.
Her Dysferlinopathy research includes elements of Magnetic resonance imaging, Muscle mri and Natural history study. Kate Bushby has included themes like Limb-girdle muscular dystrophy, Muscular dystrophy and Epidemiology in her Disease study. Her study in Muscular dystrophy is interdisciplinary in nature, drawing from both Sanger sequencing and Centronuclear myopathy.
Duchenne muscular dystrophy, Disease, Clinical trial, Physical therapy and Muscular dystrophy are her primary areas of study. The Duchenne muscular dystrophy study combines topics in areas such as Bone pain, Neuromuscular disease, Bisphosphonate and Intensive care medicine. Her Clinical trial research is multidisciplinary, incorporating elements of Severity of illness, Psychometrics and Physical medicine and rehabilitation.
She interconnects Young adult, Gerontology, Alternative medicine and Pediatrics in the investigation of issues within Physical therapy. Kate Bushby studies Muscular dystrophy, namely Dysferlinopathy. Her Internal medicine study integrates concerns from other disciplines, such as Limb-girdle muscular dystrophy, Genetic heterogeneity, Bethlem myopathy and LMNA.
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Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation.
Michelle Eagle;Simon V Baudouin;Colin Chandler;David R Giddings.
Neuromuscular Disorders (2002)
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.
Sebahattin Cirak;Virginia Arechavala-Gomeza;Michela Guglieri;Lucy Feng.
The Lancet (2011)
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
Maria Kinali;Maria Kinali;Virginia Arechavala-Gomeza;Lucy Feng;Sebahattin Cirak.
Lancet Neurology (2009)
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
R Bashir;S Britton;T Strachan;S Keers.
Nature Genetics (1998)
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
Martin Brockington;Yeliz Yuva;Paola Prandini;Susan C. Brown.
Human Molecular Genetics (2001)
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Bonne G;Mercuri E;Muchir A;Urtizberea A.
Annals of Neurology (2000)
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
Fiona L. M. Norwood;Chris Harling;Patrick F. Chinnery;Michelle Eagle.
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Catherine L. Bladen;David Salgado;Soledad Monges;Maria E. Foncuberta.
Human Mutation (2015)
Collagen VI related muscle disorders
A K Lampe;K M D Bushby.
Journal of Medical Genetics (2005)
Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development
Louise V. B. Anderson;Keith Davison;Jennifer A. Moss;Carol Young.
Human Molecular Genetics (1999)
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