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Refining genotype : phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Author
GODFREY, Caroline1 2 ; CLEMENT, Emma1 ; JIMENEZ -MALLEBRERA, Cecilia1 ; MERCURI, Eugenio1 ; MANZUR, Adnany1 ; KINALI, Maria1 ; TORELLI, Silvia1 ; BROWN, Susan C1 ; SEWRY, Caroline A1 6 ; BUSHBY, Kate5 ; TOPALOGLU, Haluk7 ; NORTH, Kathryn3 ; MEIN, Rachael2 ; ABBS, Stephen2 ; MUNTONI, Francesco1 ; BROCKINGTON, Martin1 ; SMITH, Janine3 ; TALIM, Beril4 ; STRAUB, Volker5 ; ROBB, Stephanie1 ; QUINLIVAN, Ros6 ; FENG, Lucy1
[1] Dubowitz Neuromuscular Unit, Hammersmith Hospital, Imperial College, London, United Kingdom
[2] DNA Laboratory, Genetics Centre, Guy's Hospital, London, United Kingdom
[3] The Institute for Neuromuscular Research, The Children's Hospital at Westmead, University of Sydney, Australia
[4] Department of Paediatric Pathology, Hacettepe Children's Hospital, Ankara, Turkey
[5] Institute of Human Genetics, University of Newcastle uponTyne, International Centre for Life, Newcastle uponTyne, United Kingdom
[6] Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom
[7] Department of Child Neurology, Hacettepe Children's Hospital, Ankara, Turkey
Source

Brain. 2007, Vol 130, pp 2725-2735, 11 p ; 10 ; ref : 3/4 p

ISSN
0006-8950
Scientific domain
Neurology
Publisher
Oxford University Press, Oxford
Publication country
United Kingdom
Document type
Article
Language
English
Author keyword
alpha dystroglycan congenital muscular dystrophy glycosylation glycosyltransferase limb girdle muscular dystrophy
Keyword (fr)
Congénital Dystrophie musculaire progressive ceintures Dystrophie musculaire Glycosyltransferases Génotype Phénotype Système nerveux pathologie Enzyme Maladie héréditaire Neuromusculaire pathologie Transferases
Keyword (en)
Congenital Limb girdle muscular dystrophy Muscular dystrophy Glycosyltransferases Genotype Phenotype Nervous system diseases Enzyme Genetic disease Neuromuscular diseases Transferases
Keyword (es)
Congénito Distrofia muscular progresiva cinturones Distrofia muscular Glycosyltransferases Genotipo Fenotipo Sistema nervioso patología Enzima Enfermedad hereditaria Neuromuscular patología Transferases
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases

Discipline
Neurology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
19168617

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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