Caroline A. Sewry

Great Ormond Street Hospital — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

88h-index23.4kcitations734works3.02yr avg
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Research Topics

Muscle Physiology and Disorders(263), Cardiomyopathy and Myosin Studies(115), Neurogenetic and Muscular Disorders Research(70), Genetic Neurodegenerative Diseases(69), Nuclear Structure and Function(50)

Publications733 total

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?
Journal of Neuromuscular Diseases·2025Open Access
Deciphering <i>DST</i> -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Brain·2025Open Access
622P An unusual case of double trouble of facioscapulohumeral dystrophy (FSHD) and coexisting congenital myopathy uncovered by whole genome sequencing
Neuromuscular Disorders·2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
Journal of Clinical Investigation·2024· 15 citedOpen Access
25th Meryon Lecture, given at the Annual Meeting of the Meryon Society, St Anne’s College, Oxford, 7th July 2023The motor unit: A chequered history
Neuromuscular Disorders·2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes
2023· 4 citedOpen Access
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial
EBioMedicine·2023· 9 citedOpen Access
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings
Neuromuscular Disorders·2022· 10 cited
Historical aspects of muscle research in the Dubowitz Neuromuscular Centre: the Hammersmith days
Neuromuscular Disorders·2021
CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
Neuromuscular Disorders·2021
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
Journal of Neuropathology & Experimental Neurology·2021· 13 citedOpen Access
Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis
Lara D. Veeken·2021· 14 cited
Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies
Neuromuscular Disorders·2021· 14 cited
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
Neuromuscular Disorders·2021· 1 cited
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy
Acta Neuropathologica Communications·2021· 36 citedOpen Access
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
UNC Libraries·2020· 3 citedOpen Access
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
2020· 1 citedOpen Access
The muscular dystrophies
Gene Therapy·2020
Muscle Biopsy: A Practical Approach
2020· 1.3k citedOpen Access
TRAPPC11-Related Muscular Dystrophy with Hypoglycosylation of Alpha-Dystroglycan in Skeletal Muscle and Brain
2020· 2 citedOpen Access
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Frequent Co-authors

Francesco Muntoni(16), Heinz Jungbluth(15), Francesco Muntoni(12), Silvia Torelli(10), Nigel G. Laing(10), Victor Dubowitz(9), Lucy Feng(8), Stephen Abbs(7), Volker Straub(7), Martin Brockington(7), S. Brown(7), Carina Wallgren‐Pettersson(7), Rosaline C. M. Quinlivan(7), Kathryn N. North(6), Enrico Bertini(6), Adnan Y. Manzur(6), Mark R. Davis(6), S. Robb(6), Sebahattin Çirak(5), Alan H. Beggs(5)