Sewry CA - Search Results

1

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.

Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F. Sewry CA, et al. Neuropathol Appl Neurobiol. 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. Neuropathol Appl Neurobiol. 2001. PMID: 11532159

2

Investigating the pathology of Emery-Dreifuss muscular dystrophy.

Brown SC, Piercy RJ, Muntoni F, Sewry CA. Brown SC, et al. Among authors: sewry ca. Biochem Soc Trans. 2008 Dec;36(Pt 6):1335-8. doi: 10.1042/BST0361335. Biochem Soc Trans. 2008. PMID: 19021551 Review.

3

Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).

Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F. Mercuri E, et al. Neurology. 2000 Apr 25;54(8):1704-5. doi: 10.1212/wnl.54.8.1704. Neurology. 2000. PMID: 10762524 No abstract available.

4

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.

Torelli S, Brown SC, Jimenez-Mallebrera C, Feng L, Muntoni F, Sewry CA. Torelli S, et al. Among authors: sewry ca. Neuropathol Appl Neurobiol. 2004 Oct;30(5):540-5. doi: 10.1111/j.1365-2990.2004.00561.x. Neuropathol Appl Neurobiol. 2004. PMID: 15488030

5

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC. Muntoni F, et al. Among authors: sewry ca. Brain. 2006 May;129(Pt 5):1260-8. doi: 10.1093/brain/awl062. Epub 2006 Apr 3. Brain. 2006. PMID: 16585054

6

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

Jiménez-Mallebrera C, Torelli S, Brown SC, Feng L, Brockington M, Sewry CA, Beltrán-Valero De Bernabé D, Muntoni F. Jiménez-Mallebrera C, et al. Among authors: sewry ca. Eur J Paediatr Neurol. 2003;7(3):129-37. doi: 10.1016/s1090-3798(03)00042-4. Eur J Paediatr Neurol. 2003. PMID: 12788039

7

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.

Torelli S, Scaglioni D, Sardone V, Ellis MJ, Domingos J, Jones A, Feng L, Chambers D, Eastwood DM, Leturcq F, Yaou RB, Urtizberea A, Sabouraud P, Barnerias C, Stojkovic T, Ricci E, Beuvin M, Bonne G, Sewry CA, Willis T, Kulshrestha R, Tasca G, Phadke R, Morgan JE, Muntoni F. Torelli S, et al. Among authors: sewry ca. J Neuropathol Exp Neurol. 2021 Oct 26;80(10):955-965. doi: 10.1093/jnen/nlab088. J Neuropathol Exp Neurol. 2021. PMID: 34498054 Free PMC article.

8

The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking.

Tunnah D, Sewry CA, Vaux D, Schirmer EC, Morris GE. Tunnah D, et al. Among authors: sewry ca. J Mol Histol. 2005 Jun;36(5):337-44. doi: 10.1007/s10735-005-9004-7. Epub 2005 Nov 10. J Mol Histol. 2005. PMID: 16283426 Free article.

9

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K. Mercuri E, et al. Arch Neurol. 2004 May;61(5):690-4. doi: 10.1001/archneur.61.5.690. Arch Neurol. 2004. PMID: 15148145

10

Munot P, McCrea N, Torelli S, Manzur A, Sewry C, Chambers D, Feng L, Ala P, Zaharieva I, Ragge N, Roper H, Marton T, Cox P, Milev MP, Liang WC, Maruyama S, Nishino I, Sacher M, Phadke R, Muntoni F. Munot P, et al. Neuropathol Appl Neurobiol. 2022 Feb;48(2):e12771. doi: 10.1111/nan.12771. Epub 2021 Nov 11. Neuropathol Appl Neurobiol. 2022. PMID: 34648194

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