Caroline Sewry
Overview
Explore the profile of Caroline Sewry including associated specialties, affiliations and a list of published articles.
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85
Citations
3437
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Recent Articles
1.
Maio N, Orbach R, Zaharieva I, Topf A, Donkervoort S, Munot P, et al.
J Clin Invest
. 2024 Jul;
134(12).
PMID: 38950322
Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA...
2.
Maio N, Orbach R, Zaharieva I, Topf A, Donkervoort S, Munot P, et al.
medRxiv
. 2024 Jan;
PMID: 38196629
Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for cluster acquisition. Here we report that patients with...
3.
Munot P, McCrea N, Torelli S, Manzur A, Sewry C, Chambers D, et al.
Neuropathol Appl Neurobiol
. 2021 Oct;
48(2):e12771.
PMID: 34648194
Aims: TRAPPC11, a subunit of the transport protein particle (TRAPP) complex, is important for complex integrity and anterograde membrane transport from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment....
4.
Marago I, Roberts M, Roncaroli F, DuPlessis D, Sewry C, Nagaraju S, et al.
Rheumatology (Oxford)
. 2021 Jul;
61(4):1645-1650.
PMID: 34264321
Objectives: Diagnosing the idiopathic inflammatory myopathies (IIMs) can be challenging as several conditions, including genetic myopathies such as limb girdle muscular dystrophy type R12 (LGMD 2 l, anoctaminopathy) mimic the...
5.
Zambon A, Lemaigre A, Phadke R, Grunewald S, Sewry C, Sarkozy A, et al.
Neuromuscul Disord
. 2021 Jan;
31(3):212-217.
PMID: 33454187
Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder caused by bi-allelic pathogenic variants in the gene MCOLN1. This encodes for mucolipin-1 (ML1), an endo-lysosomal transmembrane Ca channel...
6.
Scaglioni D, Catapano F, Ellis M, Torelli S, Chambers D, Feng L, et al.
Acta Neuropathol Commun
. 2021 Jan;
9(1):7.
PMID: 33407808
During the last decade, multiple clinical trials for Duchenne muscular dystrophy (DMD) have focused on the induction of dystrophin expression using different strategies. Many of these trials have reported a...
7.
Scaglioni D, Ellis M, Catapano F, Torelli S, Chambers D, Feng L, et al.
Acta Neuropathol Commun
. 2020 Apr;
8(1):53.
PMID: 32303261
The primary molecular endpoint for many Duchenne muscular dystrophy (DMD) clinical trials is the induction, or increase in production, of dystrophin protein in striated muscle. For accurate endpoint analysis, it...
8.
Laitila J, McNamara E, Wingate C, Goullee H, Ross J, Taylor R, et al.
Acta Neuropathol Commun
. 2020 Feb;
8(1):18.
PMID: 32066503
Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden. Most NEB-NM patients...
9.
Lornage X, Schartner V, Balbueno I, Biancalana V, Willis T, Echaniz-Laguna A, et al.
Acta Neuropathol Commun
. 2019 Aug;
7(1):138.
PMID: 31455395
Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb-girdle muscular dystrophy. Here we describe three novel PYROXD1 families at the clinical, histological,...
10.
Udd B, Stenzel W, Oldfors A, Olive M, Romero N, Lammens M, et al.
Neuromuscul Disord
. 2019 May;
29(6):483-485.
PMID: 31101462
No abstract available.