Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Susan C. Brown"'
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 79:1257-1264
Mutations in the fukutin-related protein gene, FKRP, are the most frequent single cause of α-dystroglycanopathy. Rare FKRP mutations are clinically not well characterized. Here, we review the phenotype associated with the rare c.919T>A mutation in F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2556b8618dcde6a7731d5fb82099e204
https://doi.org/10.1093/jnen/nlaa120
https://doi.org/10.1093/jnen/nlaa120
Publikováno v:
Neurobiology of Disease, Vol 15, Iss 2, Pp 212-220 (2004)
Following molecular and immunohistochemical analysis of the purinergic P2X4 receptor subunit in dystrophin-deficient muscle we have identified a distinct subpopulation of P2X4-positive cells infiltrating the dystrophic fibres. These cells were absent
Externí odkaz:
https://doaj.org/article/58c7ff1ebde14ff290d5d82ec6866f4f
Autor:
Marta Fernandez-Fuente, Cesare M Terracciano, Pilar Martin-Duque, Susan C Brown, Georges Vassaux, Richard J Piercy
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e105971 (2014)
Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malig
Externí odkaz:
https://doaj.org/article/a4ee4f56c50941afb01288455300929e
Autor:
Martin Brockington, Silvia Torelli, Paul S Sharp, Ke Liu, Sebahattin Cirak, Susan C Brown, Dominic J Wells, Francesco Muntoni
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e14434 (2010)
BACKGROUND:LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of α-dystroglycan. Overexpression of LARGE induces hyperglycosylation of α-dystrogl
Externí odkaz:
https://doaj.org/article/4528d60e38da410791d5874fbea977db
Autor:
Jane Miller, Susan C. Brown
Publikováno v:
Neuromuscular Disorders. 27:98-105
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a74ad552b0a4d3dfa00315760bffc6
https://doi.org/10.1016/j.nmd.2016.12.012
https://doi.org/10.1016/j.nmd.2016.12.012
Publikováno v:
Brain Pathology. 26:465-478
The secondary dystroglycanopathies are characterized by the hypoglycosylation of alpha dystroglycan, and are associated with mutations in at least 18 genes that act on the glycosylation of this cell surface receptor rather than the Dag1 gene itself.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83db7e213b8630dbbc538763be4f7056
https://doi.org/10.1111/bpa.12306
https://doi.org/10.1111/bpa.12306
Autor:
Michel Fardeau, Shari Fallet, Silvia Torelli, Norma B. Romero, C Pollitt, Gillian Storey, Caroline Sewry, Paola Prandini, Rumaisa Bashir, Thomas Voit, Derek J. Blake, Louise V.B. Anderson, Kate Bushby, Susan C. Brown, Volker Straub, Y Yuva, Isabelle Richard, Francesco Muntoni, Ralf Herrmann, Matthew A. Benson, Jean-Marc Burgunder, Martin Brockington
Publikováno v:
Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (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. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few months of life, whereas in LGMD they can occur in lat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8637abdd8a7da6e9a9ecb905ca82f74c
http://doc.rero.ch/record/297949/files/dde309.pdf
http://doc.rero.ch/record/297949/files/dde309.pdf
Publikováno v:
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
Aims The secondary dystroglycanopathies represent a heterogeneous group of congenital muscular dystrophies characterized by the defective glycosylation of alpha dystroglycan. These disorders are associated with mutations in at least 17 genes, includi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ab97d784991969b12ccaca628d8bab
https://researchonline.rvc.ac.uk/id/eprint/10851/1/10851.pdf
https://researchonline.rvc.ac.uk/id/eprint/10851/1/10851.pdf
Autor:
Susan C. Brown, Steve J. Winder, Neil Bevan, Lyndsey Bevan, Sue Brown, Hans van Bokhoven, Kevin Campbell, Sebahattin Cirak, Bulmaro Cisneros, Holly Colognato, Erhard Hohenester, Dirk Lefeber, Monika Liljedahl, Yung-Yao Lin, Qi Lu, Natalie Seta, Dirk J. Lefeber, Erherd Honenester, Halyna Shcherbata, Volker Straub, Steve Winder
Publikováno v:
Neuromuscular Disorders, 27, 387-395
Neuromuscular Disorders, 27, 4, pp. 387-395
Neuromuscular Disorders, 27, 4, pp. 387-395
Highlights • Review of clinical phenotypes associated with the dystroglycanopathies. • Discussion of current animal models and their contribution to understanding the disease process. • New insight into the glycosylation of alpha dystroglycan a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b179b3f8fd17b2629475e27821c6abcf
http://hdl.handle.net/2066/170057
http://hdl.handle.net/2066/170057
Publikováno v:
Brain Pathology. 24:280-284
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1bb2ad9dcc375b9f4927f2436496b39
https://doi.org/10.1111/bpa.12118
https://doi.org/10.1111/bpa.12118