Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Martin Brockington"'
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:
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:
Neurotherapeutics. 5:627-632
In the last few years, muscular dystrophies due to reduced glycosylation of alpha-dystroglycan (ADG) have emerged as a common group of conditions, now referred to as dystroglycanopathies. Mutations in six genes (POMT1, POMT2, POMGnT1, Fukutin, FKRP a
Autor:
Haluk Topaloglu, Lucy Feng, Kate Bushby, Beril Talim, Adnan Y. Manzur, Cecilia Jimenez-Mallebrera, Volker Straub, Emma Clement, Caroline Godfrey, Caroline Sewry, Stephen Abbs, Susan C. Brown, Martin Brockington, R. Mein, Maria Kinali, Kathryn N. North, Ros Quinlivan, Francesco Muntoni, Stephanie Robb, Eugenio Mercuri, Janine Smith, Silvia Torelli
Publikováno v:
Brain. 130:2725-2735
Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions which include a wide spectrum of clinical severity. Reported p
Autor:
Volker Straub, Haiyan Zhou, Thomas Voit, Martin Brockington, Caroline Sewry, Cheryl Longman, B. Halliger-Keller, Clemens R. Müller, Stephanie A. Robb, Heinz Jungbluth, Graeme M. Bydder, Ana Ferreiro, Louise Hartley, Michael Swash, Sonia Messina, Francesco Muntoni
Publikováno v:
Neurology. 65:1930-1935
Background: Minicore myopathy (multi-minicore disease [MmD]) is a congenital myopathy characterized by multifocal areas with loss of oxidative activity on muscle biopsy. MmD is clinically heterogeneous and distinct phenotypes have been associated wit
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.
Autor:
Kate Bushby, Haluk Topaloglu, L. Sagi, C. Longman, Richard S. Houlston, Martin Brockington, Ibrahim Mahjneh, Gabrielle S. Sellick, Francesco Muntoni
Publikováno v:
Human Genetics. 117:207-212
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders, which present within the first 6 months of life with hypotonia, muscle weakness and contractures, associated with dystrophic changes on skeletal mus
Autor:
D Hilton Jones, Cheryl Longman, Y Yuva, Matthew Wright, Francesco Muntoni, AK Lampe, Thomas Voit, Caroline Sewry, Eugenio Mercuri, Volker Straub, Martin Brockington, S Brown, Kate Bushby, Carsten G. Bönnemann, Ingrid Hausser, Maria Kinali
Publikováno v:
Neuropediatrics. 35:224-229
We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (CMD) in association with short stature, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure an
Autor:
Lucy Feng, Caroline Sewry, Colin Kennedy, Susan C. Brown, Ravindra K. Saran, Silvia Torelli, Martin Brockington, Cecilia Jimenez-Mallebrera, Luciano Merlini, Cheryl Longman, Thomas Voit, Nofal Khalil, Francesco Muntoni
Publikováno v:
Human Molecular Genetics. 12:2853-2861
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders. A new pathomechanism has recently been identified in a group of these disorders in which known or putative glycosyltransferases are defective. Commo