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C. Sewry · SciRah

Researcher profile · Semantic Scholar

C. Sewry

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C. Sewry — researcher profile on SciRah

h-index: 94
Works: 623
Citations: 26K

Most-cited papers

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction
H. Jungbluth, S. Treves, F. Zorzato, A. Sarkozy +5 more
2018Nature Reviews Neurology249 citations Open access
Semantic Scholar
Nemaline myopathies: a current view
C. Sewry, J. Laitila, C. Wallgren-Pettersson
2019Journal of Muscle Research and Cell Motility162 citations Open access
Semantic Scholar
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
S. Byrne, L. Jansen, J. U-King-im, A. Siddiqui +50 more
2016Brain : a journal of neurology137 citations Open access
Semantic Scholar
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
V. Schartner, N. Romero, S. Donkervoort, S. Treves +36 more
2017Acta Neuropathologica108 citations Open access
Semantic Scholar
Muscle Biopsy: A Practical Approach
V. Dubowitz, C. Sewry, A. Oldfors, R. Lane
2020106 citations
Semantic Scholar
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
M. Sframeli, A. Sarkozy, M. Bertoli, G. Astrea +15 more
2017Neuromuscular Disorders99 citations Open access
Semantic Scholar
A chemical chaperone improves muscle function in mice with a RyR1 mutation
Chang Seok Lee, Amy D. Hanna, Hui Wang, A. Dagnino-Acosta +15 more
2017Nature Communications70 citations Open access
Semantic Scholar
Histological and Histochemical Stains and Reactions
V. Dubowitz, C. Sewry
2020Muscle Biopsy69 citations
Semantic Scholar
Myopathology in congenital myopathies
C. Sewry, C. Wallgren-Pettersson
2017Neuropathology and Applied Neurobiology65 citations
Semantic Scholar
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
M. Wiessner, A. Roos, C. Munn, Ranjith Viswanathan +34 more
2017American Journal of Human Genetics64 citations Open access
Semantic Scholar
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
M. Lawlor, A. Beggs, Ana Buj-Bello, M. Childers +7 more
2016Journal of Neuropathology and Experimental Neurology63 citations Open access
Semantic Scholar
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
I. Zaharieva, A. Sarkozy, P. Munot, A. Manzur +31 more
2018Human Mutation53 citations Open access
Semantic Scholar
1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018.
B. Udd, W. Stenzel, A. Oldfors, M. Olivé +6 more
2019Neuromuscular Disorders48 citations Open access
Semantic Scholar
Bi‐allelic mutations in MYL1 cause a severe congenital myopathy
G. Ravenscroft, I. Zaharieva, C. Bortolotti, M. Lambrughi +16 more
2018Human Molecular Genetics43 citations Open access
Semantic Scholar
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies
N. Janghra, J. Morgan, C. Sewry, F. Wilson +3 more
2016PLoS ONE43 citations Open access
Semantic Scholar
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.
K. Kiiski, V. Lehtokari, A. Vihola, J. Laitila +9 more
2019Neuromuscular Disorders40 citations
Semantic Scholar
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy
Dominic Scaglioni, F. Catapano, M. Ellis, S. Torelli +16 more
2021Acta Neuropathologica Communications33 citations Open access
Semantic Scholar
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
G. J. Knuiman, B. Küsters, L. Eshuis, M. Snoeck +16 more
2019Journal of Neurology33 citations Open access
Semantic Scholar
Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody
I. Holt, D. T. Nguyễn, Qiu-Ping Zhang, L. Lam +4 more
2016BMC Cell Biology31 citations Open access
Semantic Scholar
Clinical, histological, and genetic characterization of PYROXD1-related myopathy
X. Lornage, V. Schartner, I. Balbueno, V. Biancalana +11 more
2019Acta Neuropathologica Communications27 citations Open access
Semantic Scholar
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations.
E. Harris, M. McEntagart, A. Topf, Hanns Lochmüller +3 more
2017Neuromuscular Disorders27 citations
Semantic Scholar
Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle
I. Holt, H. Fuller, L. Lam, C. Sewry +4 more
2019Scientific Reports23 citations Open access
Semantic Scholar
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples
V. Sardone, M. Ellis, S. Torelli, Lucy H. Feng +6 more
2018PLoS ONE21 citations Open access
Semantic Scholar
MANGANESE deficiency.
M. Oette, M. Stone, H. Scholl, P. Issa +175 more
2022Journal of the American Veterinary Medical Association20 citations Open access
Semantic Scholar
Golodirsen Induces Exon Skipping Leading to Sarcolemmal Dystrophin Expression in Duchenne Muscular Dystrophy Patients With Mutations Amenable to Exon 53 Skipping (S22.001)
F. Muntoni, D. Frank, V. Sardone, Jennifer E. Morgan +17 more
2018Neurology20 citations
Semantic Scholar
Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature review.
P. Hafner, R. Phadke, A. Manzur, R. Smith +5 more
2019Neuromuscular Disorders19 citations Open access
Semantic Scholar
TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain
P. Munot, N. McCrea, S. Torelli, A. Manzur +16 more
2020Neuropathology and Applied Neurobiology18 citations Open access
Semantic Scholar
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy
A. Sarkozy, S. Torelli, R. Mein, M. Henderson +28 more
2018Journal of Neurology Neurosurgery & Psychiatry18 citations Open access
Semantic Scholar
Recessive MYH7-related myopathy in two families.
S. Beecroft, M. van de Locht, J. D. de Winter, C. Ottenheijm +12 more
2019Neuromuscular Disorders17 citations Open access
Semantic Scholar
Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation
L. Lam, I. Holt, J. Laitila, M. Hanif +4 more
2018Scientific Reports16 citations Open access
Semantic Scholar
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
Gemma L. Walmsley, S. Blot, K. Venner, C. Sewry +8 more
2017American Journal of Pathology16 citations Open access
Semantic Scholar
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
N. Maio, Rotem Orbach, I. Zaharieva, A. Töpf +21 more
2024Journal of Clinical Investigation15 citations Open access
Semantic Scholar
Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.
Italo Marago, M. Roberts, F. Roncaroli, D. Duplessis +10 more
2021Rheumatology15 citations Open access
Semantic Scholar
Immunohistochemistry on a panel of Emery–Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology
Phú Lê Thành, P. Meinke, Nadia Korfali, V. Sršeň +5 more
2017Neuromuscular Disorders15 citations Open access
Semantic Scholar
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures
S. Brady, E. Healy, Q. Gang, M. Parton +9 more
2016Journal of Neuropathology and Experimental Neurology15 citations
Semantic Scholar
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Urielle Ullmann, L. D'Argenzio, Shreya Mathur, T. Whyte +15 more
2018Neuromuscular Disorders14 citations Open access
Semantic Scholar
The Procedure of Muscle Biopsy
V. Dubowitz, C. Sewry
2020Muscle Biopsy13 citations
Semantic Scholar
Rescue of skeletal muscle alpha-actin-null mice by cardiac ( fetal ) alpha-actin
Kristen J. Nowak, G. Ravenscroft, C. Jackaman, A. Filipovska +17 more
201712 citations
Semantic Scholar
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
M. Lawlor, B. Schoser, Marta Margeta, C. Sewry +35 more
2023EBioMedicine11 citations Open access
Semantic Scholar
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
S. Torelli, D. Scaglioni, V. Sardone, M. Ellis +21 more
2021Journal of Neuropathology and Experimental Neurology11 citations Open access
Semantic Scholar
Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies.
C. Sewry, L. Feng, D. Chambers, E. Matthews +1 more
2021Neuromuscular Disorders10 citations
Semantic Scholar
A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies
Dominic Scaglioni, M. Ellis, F. Catapano, S. Torelli +6 more
2020Acta Neuropathologica Communications10 citations Open access
Semantic Scholar
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
J. Laitila, E. McNamara, C. Wingate, H. Goullée +16 more
2020Acta Neuropathologica Communications9 citations Open access
Semantic Scholar
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.
A. Zambon, F. Abel, B. Linnane, D. O'Rourke +5 more
2022Neuromuscular Disorders8 citations
Semantic Scholar
Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging.
C. de Goede, T. Oh, J. Joseph, F. Muntoni +2 more
2016Pediatric Neurology8 citations
Semantic Scholar
CONGENITAL MUSCULAR DYSTROPHIES
P. Munot, N. McCrea, S. Torelli, A. Manzur +16 more
2020Neuromuscular Disorders7 citations
Semantic Scholar
Basics of Skeletal Muscle Function and Normal Physiology
S. Brown, C. Sewry
20177 citations
Semantic Scholar
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes
N. Maio, Rotem Orbach, I. Zaharieva, A. Töpf +21 more
2023medRxiv4 citations Open access
Semantic Scholar
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Maureen Jacob, H. Kölbel, P. Harrer, R. Kopajtich +51 more
2025Brain : a journal of neurology2 citations Open access
Semantic Scholar
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects.
A. Zambon, A. Lemaigre, R. Phadke, S. Grunewald +4 more
2021Neuromuscular Disorders2 citations
Semantic Scholar

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