Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
- Author
- NICOLE, Sophie1 ; DAVOINE, Claire-Sophie1 ; SAMSON, Delphine3 ; URTIZBEREA, J. Andoni8 ; LEHMANN-HORN, Franck9 ; WEISSENBACH, Jean3 ; HENTATI, Faycal5 ; FONTAINE, Bertrand1 10 ; TOPALOGLU, Haluk2 ; CATTOLICO, Laurence3 ; BARRAL, Duarte1 ; BEIGHTON, Peter4 ; BEN HAMIDA, Christiane5 ; HAMMOUDA, Hadi6 ; CRUAUD, Corinne3 ; WHITE, Peter S7
[1] INSERM CJF9711, Faculté de Médecine Pitié-Salpêtrière, Paris, France
[2] Department of Paediatric Neurology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
[3] Genoscope, Evry, France
[4] Department of Human Genetics, University of Cape Town, South Africa
[5] Institut National de Neurologie, Tunis, Tunisia
[6] Généthon, Evry, France
[7] Division of Oncology, Children's Hospital, Philadelphia, Pennsylvania, United States
[8] Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
[9] Department of Physiology, University of Ulm, Ulm, Germany
[10] Fédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France - Source
Nature genetics. 2000, Vol 26, Num 4, pp 480-483 ; ref : 27 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Etude familiale Homme Lame basale Mutation Myotonie Ostéochondrodysplasie Protéoglycane Gène HSPG2 Perlécane Schwartz-Jampel syndrome Glycoprotéine Maladie héréditaire Neuromusculaire pathologie Système nerveux pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Family study Human Basement membrane Mutation Myotonia Osteochondrodysplasia Proteoglycan Glycoprotein Genetic disease Neuromuscular diseases Nervous system diseases Diseases of the osteoarticular system
- Keyword (es)
- Estudio familiar Hombre Lámina basal Mutación Miotonía Osteocondrodisplasia Proteoglicano Glicoproteína Enfermedad hereditaria Neuromuscular patología Sistema nervioso patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 857665
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
Access to the document
Install on your browser
DOI
10.1038/82638 
https://dx.doi.org/10.1038/82638
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:13:\"10.1038\/82638\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:9:\"\u0000*\u0000jtitle\";s:15:\"Nature genetics\";s:9:\"\u0000*\u0000stitle\";s:10:\"Nat. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"26\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"480\";s:8:\"\u0000*\u0000epage\";s:3:\"483\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1061-4036\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"NICOLE\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Sophie\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:22:\"DAVOINE, Claire-Sophie\";i:1;s:16:\"SAMSON, Delphine\";i:2;s:21:\"URTIZBEREA, J. Andoni\";i:3;s:20:\"LEHMANN-HORN, Franck\";i:4;s:17:\"WEISSENBACH, Jean\";i:5;s:15:\"HENTATI, Faycal\";i:6;s:18:\"FONTAINE, Bertrand\";i:7;s:16:\"TOPALOGLU, Haluk\";i:8;s:19:\"CATTOLICO, Laurence\";i:9;s:14:\"BARRAL, Duarte\";i:10;s:15:\"BEIGHTON, Peter\";i:11;s:22:\"BEN HAMIDA, Christiane\";i:12;s:14:\"HAMMOUDA, Hadi\";i:13;s:15:\"CRUAUD, Corinne\";i:14;s:14:\"WHITE, Peter S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NGENEC\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:13:\"10.1038\/82638\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:9:\"\u0000*\u0000jtitle\";s:15:\"Nature genetics\";s:9:\"\u0000*\u0000stitle\";s:10:\"Nat. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"26\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"480\";s:8:\"\u0000*\u0000epage\";s:3:\"483\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1061-4036\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"NICOLE\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Sophie\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:22:\"DAVOINE, Claire-Sophie\";i:1;s:16:\"SAMSON, Delphine\";i:2;s:21:\"URTIZBEREA, J. Andoni\";i:3;s:20:\"LEHMANN-HORN, Franck\";i:4;s:17:\"WEISSENBACH, Jean\";i:5;s:15:\"HENTATI, Faycal\";i:6;s:18:\"FONTAINE, Bertrand\";i:7;s:16:\"TOPALOGLU, Haluk\";i:8;s:19:\"CATTOLICO, Laurence\";i:9;s:14:\"BARRAL, Duarte\";i:10;s:15:\"BEIGHTON, Peter\";i:11;s:22:\"BEN HAMIDA, Christiane\";i:12;s:14:\"HAMMOUDA, Hadi\";i:13;s:15:\"CRUAUD, Corinne\";i:14;s:14:\"WHITE, Peter S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NGENEC\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:13:\"10.1038\/82638\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:13:\"10.1038\/82638\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:9:\"\u0000*\u0000jtitle\";s:15:\"Nature genetics\";s:9:\"\u0000*\u0000stitle\";s:10:\"Nat. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"26\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"480\";s:8:\"\u0000*\u0000epage\";s:3:\"483\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1061-4036\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"NICOLE\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Sophie\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:22:\"DAVOINE, Claire-Sophie\";i:1;s:16:\"SAMSON, Delphine\";i:2;s:21:\"URTIZBEREA, J. Andoni\";i:3;s:20:\"LEHMANN-HORN, Franck\";i:4;s:17:\"WEISSENBACH, Jean\";i:5;s:15:\"HENTATI, Faycal\";i:6;s:18:\"FONTAINE, Bertrand\";i:7;s:16:\"TOPALOGLU, Haluk\";i:8;s:19:\"CATTOLICO, Laurence\";i:9;s:14:\"BARRAL, Duarte\";i:10;s:15:\"BEIGHTON, Peter\";i:11;s:22:\"BEN HAMIDA, Christiane\";i:12;s:14:\"HAMMOUDA, Hadi\";i:13;s:15:\"CRUAUD, Corinne\";i:14;s:14:\"WHITE, Peter S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NGENEC\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:13:\"10.1038\/82638\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:9:\"\u0000*\u0000jtitle\";s:15:\"Nature genetics\";s:9:\"\u0000*\u0000stitle\";s:10:\"Nat. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"26\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"480\";s:8:\"\u0000*\u0000epage\";s:3:\"483\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1061-4036\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"NICOLE\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Sophie\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:22:\"DAVOINE, Claire-Sophie\";i:1;s:16:\"SAMSON, Delphine\";i:2;s:21:\"URTIZBEREA, J. Andoni\";i:3;s:20:\"LEHMANN-HORN, Franck\";i:4;s:17:\"WEISSENBACH, Jean\";i:5;s:15:\"HENTATI, Faycal\";i:6;s:18:\"FONTAINE, Bertrand\";i:7;s:16:\"TOPALOGLU, Haluk\";i:8;s:19:\"CATTOLICO, Laurence\";i:9;s:14:\"BARRAL, Duarte\";i:10;s:15:\"BEIGHTON, Peter\";i:11;s:22:\"BEN HAMIDA, Christiane\";i:12;s:14:\"HAMMOUDA, Hadi\";i:13;s:15:\"CRUAUD, Corinne\";i:14;s:14:\"WHITE, Peter S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NGENEC\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:13:\"10.1038\/82638\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:9:\"\u0000*\u0000jtitle\";s:15:\"Nature genetics\";s:9:\"\u0000*\u0000stitle\";s:10:\"Nat. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"26\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"480\";s:8:\"\u0000*\u0000epage\";s:3:\"483\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1061-4036\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"NICOLE\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Sophie\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:15:{i:0;s:22:\"DAVOINE, Claire-Sophie\";i:1;s:16:\"SAMSON, Delphine\";i:2;s:21:\"URTIZBEREA, J. Andoni\";i:3;s:20:\"LEHMANN-HORN, Franck\";i:4;s:17:\"WEISSENBACH, Jean\";i:5;s:15:\"HENTATI, Faycal\";i:6;s:18:\"FONTAINE, Bertrand\";i:7;s:16:\"TOPALOGLU, Haluk\";i:8;s:19:\"CATTOLICO, Laurence\";i:9;s:14:\"BARRAL, Duarte\";i:10;s:15:\"BEIGHTON, Peter\";i:11;s:22:\"BEN HAMIDA, Christiane\";i:12;s:14:\"HAMMOUDA, Hadi\";i:13;s:15:\"CRUAUD, Corinne\";i:14;s:14:\"WHITE, Peter S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"NGENEC\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:137:\"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:23:\"Nature Publishing Group\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
