Caroline A. Sewry mainly investigates Muscular dystrophy, Genetics, Pathology, Congenital muscular dystrophy and Skeletal muscle. Her Muscular dystrophy study combines topics in areas such as Endocrinology and Dystroglycan. Her Pathology research integrates issues from Magnetic resonance imaging and Anatomy.
The Congenital muscular dystrophy study combines topics in areas such as Laminin, Rehabilitation, Physical therapy and Fukutin-related protein. Her Skeletal muscle research incorporates themes from Duchenne muscular dystrophy and Muscle weakness. Her Fukutin research includes themes of Fukuyama congenital muscular dystrophy, Cobblestone Lissencephaly and Pikachurin.
Caroline A. Sewry mostly deals with Pathology, Muscular dystrophy, Internal medicine, Congenital muscular dystrophy and Genetics. Her Pathology research includes elements of Muscle contracture, Muscle weakness and Anatomy. She has researched Muscular dystrophy in several fields, including Limb-girdle muscular dystrophy, Emery–Dreifuss muscular dystrophy, Duchenne muscular dystrophy and Skeletal muscle.
Her research combines Endocrinology and Internal medicine. Her research investigates the connection with Congenital muscular dystrophy and areas like Locus which intersect with concerns in Genetic linkage. Her study explores the link between Fukuyama congenital muscular dystrophy and topics such as Walker–Warburg syndrome that cross with problems in Fukutin.
Caroline A. Sewry spends much of her time researching Pathology, Muscle biopsy, Muscular dystrophy, Genetics and Biopsy. In her study, Dystrophy and Oculopharyngeal muscular dystrophy is strongly linked to Bethlem myopathy, which falls under the umbrella field of Pathology. Her Muscle biopsy research entails a greater understanding of Internal medicine.
Her studies deal with areas such as Dermatology, Duchenne muscular dystrophy and Skeletal muscle as well as Muscular dystrophy. Caroline A. Sewry combines subjects such as Physical therapy, Muscle disease, Myotonic dystrophy and Medical diagnosis with her study of Biopsy. Her work carried out in the field of Physical therapy brings together such families of science as Neuromuscular disease and Congenital muscular dystrophy.
The scientist’s investigation covers issues in Muscle biopsy, Pathology, Congenital myopathy, Mutation and Genetics. Her Muscle biopsy research incorporates elements of Visual analogue scale, RYR1 and Myopathy. Her Pathology research is multidisciplinary, relying on both Muscular dystrophy and Myotonic dystrophy.
Her Muscular dystrophy study combines topics from a wide range of disciplines, such as Limb-girdle muscular dystrophy, Dystrophy and Mitochondrial myopathy. Her work deals with themes such as Centronuclear myopathy and Skeletal muscle, which intersect with Congenital myopathy. Her research in Endocrinology focuses on subjects like Internal medicine, which are connected to Histopathology.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Muscle Biopsy: A Practical Approach
Victor Dubowitz;Caroline A. Sewry;Anders Oldfors;Russell J. M. Lane.
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Martin Brockington;Derek J. Blake;Paola Prandini;Susan C. Brown.
American Journal of Human Genetics (2001)
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)
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan
Cheryl Longman;Martin Brockington;Silvia Torelli;Cecilia Jimenez-Mallebrera.
Human Molecular Genetics (2003)
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
Kristen J. Nowak;Kristen J. Nowak;Duangrurdee Wattanasirichaigoon;Hans H. Goebel;Matthew Wilce.
Nature Genetics (1999)
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Caroline Godfrey;Emma Clement;Rachael Mein;Martin Brockington.
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
Gary L. Brodsky;Francesco Muntoni;Snjezana Miocic;Gianfranco Sinagra.
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
Katarina Pelin;Pirta Hilpelä;Kati Donner;Caroline Sewry.
Proceedings of the National Academy of Sciences of the United States of America (1999)
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Clare V Logan;György Szabadkai;György Szabadkai;Jenny A Sharpe;David A Parry.
Nature Genetics (2014)
RYR1 mutations are a common cause of congenital myopathies with central nuclei
J M Wilmshurst;S Lillis;H Zhou;K Pillay.
Annals of Neurology (2010)
If you think any of the details on this page are incorrect, let us know.
We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below: