Zobrazeno 1 - 10
of 17
pro vyhledávání: '"L. Skordis"'
Autor:
S Patel, Victor Dubowitz, Francesco Muntoni, Kay E. Davies, L Campbell, Judith Melki, Lydia Burglen, Matthew G. Dunckley, Kevin Talbot, L. Skordis
We report two novel mutations in three cases of spinal muscular atrophy (SMA), including two distant cousins who followed an unexpectedly severe course. Diagnosis was confirmed by reduced SMN protein and full-length SMN mRNA levels. Sequencing of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dec4c4e756a6d0133cfd6525edfc81d4
https://ora.ox.ac.uk/objects/uuid:71648c00-963e-4c5b-b64e-0517414adc16
https://ora.ox.ac.uk/objects/uuid:71648c00-963e-4c5b-b64e-0517414adc16
Iron overload in patients with thalassemia major (TM) affects glucose regulation and is mediated by several mechanisms. The pathogenesis of glycaemic abnormalities in TM is complex and multifactorial. It has been predominantly attributed to a combina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::37d61538852404f5b696443ceb81b6cd
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3171641
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3171641
Autor:
M. Fidanboylu, M. Kaluarachchi, M.R. Ackroyd, L. Skordis, J. Godwin, S. Prior, Susan C. Brown, Francesco Muntoni, Richard J. Piercy
Publikováno v:
Brain. 132:439-451
Mutations in fukutin related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms with associated structural brain involvement, including Muscle
Autor:
Ulla M. Wewer, Norma B. Romero, David P.H. Jones, Martin Brockington, Lucy Feng, Ichizo Nishino, N Dolatshad, Susan C. Brown, Luciano Merlini, L. Skordis, C Jimenez, Francesco Muntoni, Caroline Sewry, Satoru Noguchi, Silvia Torelli, Thomas Voit
Publikováno v:
NEUROMUSCULAR DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
MDC1C and LGMD2I are two allelic forms of muscular dystrophies caused by mutations in the gene encoding for fukutin related protein (FKRP). FKRP encodes for a putative glycosyltransferase, the precise function of which is unknown. However, the marked
Autor:
U Wever, L Skordis, Francesco Muntoni, Martin Brockington, Dominic J. Wells, Silvia Torelli, N F Dolatshad, Susan C. Brown
Publikováno v:
Experimental Cell Research. 309:370-378
The mechanism of disease in forms of congenital and limb girdle muscular dystrophy linked to mutations in the gene encoding for Fukutin-related protein (FKRP) has previously been associated with the mis-localisation of FKRP from the Golgi apparatus.
Publikováno v:
Proceedings of the National Academy of Sciences. 100:4114-4119
The multiplicity of proteins compared with genes in mammals owes much to alternative splicing. Splicing signals are so subtle and complex that small perturbations may allow the production of new mRNA variants. However, the flexibility of splicing can
Publikováno v:
Neuromuscular Disorders. 18:738
Autor:
J. Godwin, M.R. Ackroyd, Susan C. Brown, L. Skordis, Francesco Muntoni, Richard J. Piercy, M. Kaluarachchi
Publikováno v:
Neuromuscular Disorders. 17:874
Publikováno v:
Neuromuscular Disorders. 16:679
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