Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
- Author
- MARX, Frank P1 ; HOLZMANN, Carsten2 ; ENGELENDER, Simone6 ; ROSS, Christopher A7 ; BERGER, Klaus8 ; SCHÖLS, Ludger9 ; SCHULZ, Jörg B1 ; RIESS, Olaf10 ; KRÜGER, Rejko1 ; STRAUSS, Karsten M1 ; LEI LI2 3 ; EBERHARDT, Olaf1 ; GERHARDT, Ellen1 ; COOKSON, Mark R4 ; HERNANDEZ, Dena4 ; FARRER, Matt J5 ; KACHERGUS, Jennifer5
[1] Department of Neurology, Laboratory of Neurodegeneration, University of Tübingen, Tübingen, Germany
[2] Department of Medical Genetics, University of Rostock, Rostock, Germany
[3] Department of Traditional Chinese Medicine, Union Hospital, Tongji Medical University, Wuhan, China
[4] Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, United States
[5] Neurogenetics Laboratory, Mayo Clinic, Jacksonville, United States
[6] Department of Pharmacology, B. Rappaport Faculty of Medicine, Technion-lsrael Institute of Technology, Haifa, Israel
[7] Department of Psychiatry, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, United States
[8] Department of Epidemiology and Social Medicine, University of Münster, Germany
[9] Neurology, University of Bochum, Bochum, Germany
[10] Department of Medical Genetics, University of Tübingen, Tübingen, Germany - Source
Human molecular genetics (Print). 2003, Vol 12, Num 11, pp 1223-1231, 9 p ; ref : 28 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractérisation Gène Identification Mutation Parkinson maladie
- Keyword (en)
- Characterization Gene Identification Mutation Parkinson disease
- Keyword (es)
- Caracterización Gen Identificación Mutación Parkinson enfermedad
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04C Molecular genetics / 002A04C02 Genes. Genome
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14905022
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
10.1093/hmg/ddg134 
https://dx.doi.org/10.1093/hmg/ddg134
"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:18:\"10.1093\/hmg\/ddg134\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2003\";s:9:\"\u0000*\u0000volume\";s:2:\"12\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1223\";s:8:\"\u0000*\u0000epage\";s:4:\"1231\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"MARX\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Frank P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:16:{i:0;s:17:\"HOLZMANN, Carsten\";i:1;s:18:\"ENGELENDER, Simone\";i:2;s:19:\"ROSS, Christopher A\";i:3;s:13:\"BERGER, Klaus\";i:4;s:15:\"SCH\u00d6LS, Ludger\";i:5;s:15:\"SCHULZ, J\u00f6rg B\";i:6;s:11:\"RIESS, Olaf\";i:7;s:14:\"KR\u00dcGER, Rejko\";i:8;s:18:\"STRAUSS, Karsten M\";i:9;s:6:\"LEI LI\";i:10;s:15:\"EBERHARDT, Olaf\";i:11;s:15:\"GERHARDT, Ellen\";i:12;s:15:\"COOKSON, Mark R\";i:13;s:15:\"HERNANDEZ, Dena\";i:14;s:14:\"FARRER, Matt J\";i:15;s:19:\"KACHERGUS, Jennifer\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"9\";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:18:\"10.1093\/hmg\/ddg134\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2003\";s:9:\"\u0000*\u0000volume\";s:2:\"12\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1223\";s:8:\"\u0000*\u0000epage\";s:4:\"1231\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"MARX\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Frank P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:16:{i:0;s:17:\"HOLZMANN, Carsten\";i:1;s:18:\"ENGELENDER, Simone\";i:2;s:19:\"ROSS, Christopher A\";i:3;s:13:\"BERGER, Klaus\";i:4;s:15:\"SCH\u00d6LS, Ludger\";i:5;s:15:\"SCHULZ, J\u00f6rg B\";i:6;s:11:\"RIESS, Olaf\";i:7;s:14:\"KR\u00dcGER, Rejko\";i:8;s:18:\"STRAUSS, Karsten M\";i:9;s:6:\"LEI LI\";i:10;s:15:\"EBERHARDT, Olaf\";i:11;s:15:\"GERHARDT, Ellen\";i:12;s:15:\"COOKSON, Mark R\";i:13;s:15:\"HERNANDEZ, Dena\";i:14;s:14:\"FARRER, Matt J\";i:15;s:19:\"KACHERGUS, Jennifer\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"9\";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:18:\"10.1093\/hmg\/ddg134\";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:18:\"10.1093\/hmg\/ddg134\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2003\";s:9:\"\u0000*\u0000volume\";s:2:\"12\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1223\";s:8:\"\u0000*\u0000epage\";s:4:\"1231\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"MARX\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Frank P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:16:{i:0;s:17:\"HOLZMANN, Carsten\";i:1;s:18:\"ENGELENDER, Simone\";i:2;s:19:\"ROSS, Christopher A\";i:3;s:13:\"BERGER, Klaus\";i:4;s:15:\"SCH\u00d6LS, Ludger\";i:5;s:15:\"SCHULZ, J\u00f6rg B\";i:6;s:11:\"RIESS, Olaf\";i:7;s:14:\"KR\u00dcGER, Rejko\";i:8;s:18:\"STRAUSS, Karsten M\";i:9;s:6:\"LEI LI\";i:10;s:15:\"EBERHARDT, Olaf\";i:11;s:15:\"GERHARDT, Ellen\";i:12;s:15:\"COOKSON, Mark R\";i:13;s:15:\"HERNANDEZ, Dena\";i:14;s:14:\"FARRER, Matt J\";i:15;s:19:\"KACHERGUS, Jennifer\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"9\";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:18:\"10.1093\/hmg\/ddg134\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2003\";s:9:\"\u0000*\u0000volume\";s:2:\"12\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1223\";s:8:\"\u0000*\u0000epage\";s:4:\"1231\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"MARX\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Frank P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:16:{i:0;s:17:\"HOLZMANN, Carsten\";i:1;s:18:\"ENGELENDER, Simone\";i:2;s:19:\"ROSS, Christopher A\";i:3;s:13:\"BERGER, Klaus\";i:4;s:15:\"SCH\u00d6LS, Ludger\";i:5;s:15:\"SCHULZ, J\u00f6rg B\";i:6;s:11:\"RIESS, Olaf\";i:7;s:14:\"KR\u00dcGER, Rejko\";i:8;s:18:\"STRAUSS, Karsten M\";i:9;s:6:\"LEI LI\";i:10;s:15:\"EBERHARDT, Olaf\";i:11;s:15:\"GERHARDT, Ellen\";i:12;s:15:\"COOKSON, Mark R\";i:13;s:15:\"HERNANDEZ, Dena\";i:14;s:14:\"FARRER, Matt J\";i:15;s:19:\"KACHERGUS, Jennifer\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"9\";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:18:\"10.1093\/hmg\/ddg134\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2003\";s:9:\"\u0000*\u0000volume\";s:2:\"12\";s:8:\"\u0000*\u0000issue\";s:2:\"11\";s:8:\"\u0000*\u0000spage\";s:4:\"1223\";s:8:\"\u0000*\u0000epage\";s:4:\"1231\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:4:\"MARX\";s:10:\"\u0000*\u0000aufirst\";s:7:\"Frank P\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:16:{i:0;s:17:\"HOLZMANN, Carsten\";i:1;s:18:\"ENGELENDER, Simone\";i:2;s:19:\"ROSS, Christopher A\";i:3;s:13:\"BERGER, Klaus\";i:4;s:15:\"SCH\u00d6LS, Ludger\";i:5;s:15:\"SCHULZ, J\u00f6rg B\";i:6;s:11:\"RIESS, Olaf\";i:7;s:14:\"KR\u00dcGER, Rejko\";i:8;s:18:\"STRAUSS, Karsten M\";i:9;s:6:\"LEI LI\";i:10;s:15:\"EBERHARDT, Olaf\";i:11;s:15:\"GERHARDT, Ellen\";i:12;s:15:\"COOKSON, Mark R\";i:13;s:15:\"HERNANDEZ, Dena\";i:14;s:14:\"FARRER, Matt J\";i:15;s:19:\"KACHERGUS, Jennifer\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:119:\"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"9\";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
