Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy
- Author
- PARANO, E1 2 3 ; PAVONE, L1 ; FALSAPERLA, R1 ; TRIFILETTI, R3 ; WANG, C4
[1] Division of Pediatric Neurology, Pediatric Clinic, University of Catania, Catania, Italy
[2] IBFSNC, CNR Catania, Italy
[3] Department of Neurology, Neuroscience and Pediatrics, The New York Hospital-Cornell Medical Center, New York, United States
[4] Department of Neurology and Molecular Genetics Laboratory, College of Physicians and Surgeons at Columbia University and the New York State Psychiatric Institute, New York, NY, United States - Conference title
- National Meeting Child Neurology Society
- Conference name
- National Meeting Child Neurology Society (25 ; Minneapolis, Minnesota 1996-09-26)
- Author (monograph)
- Child Neurology Society, United States (Funder/Sponsor)
- Source
Annals of neurology. 1996, Vol 40, Num 2, pp 247-251 ; ref : 27 ref
- Publisher
- Willey-Liss, Hoboken
- Publication country
- United Kingdom
- Document type
- Conference Paper
- Language
- English
- Keyword (fr)
- Amyotrophie médullaire Biologie moléculaire Etude familiale Fratrie Homme Phénotype Maladie dégénérative Moelle épinière pathologie Neuromusculaire pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Spinal amyotrophy Molecular biology Family study Sibling Human Phenotype Degenerative disease Spinal cord disease Neuromuscular diseases Central nervous system disease Nervous system diseases
- Keyword (es)
- Amiotrofía medular Biología molecular Estudio familiar Hermandad Hombre Fenotipo Enfermedad degenerativa Médula espinal patología Neuromuscular patología Sistema nervosio central patología Sistema nervioso patología
- 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
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3190147
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
10.1002/ana.410400219 
https://dx.doi.org/10.1002/ana.410400219
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:21:\"10.1002\/ana.410400219\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Annals of neurology\";s:9:\"\u0000*\u0000stitle\";s:11:\"Ann. neurol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"40\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"247\";s:8:\"\u0000*\u0000epage\";s:3:\"251\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0364-5134\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"PARANO\";s:10:\"\u0000*\u0000aufirst\";s:1:\"E\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:9:\"PAVONE, L\";i:1;s:13:\"FALSAPERLA, R\";i:2;s:13:\"TRIFILETTI, R\";i:3;s:7:\"WANG, C\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"ANNED3\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:40:\"National Meeting Child Neurology Society\";s:8:\"\u0000*\u0000title\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:8:\"\u0000*\u0000place\";s:7:\"Hoboken\";s:6:\"\u0000*\u0000pub\";s:11:\"Willey-Liss\";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:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:21:\"10.1002\/ana.410400219\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Annals of neurology\";s:9:\"\u0000*\u0000stitle\";s:11:\"Ann. neurol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"40\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"247\";s:8:\"\u0000*\u0000epage\";s:3:\"251\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0364-5134\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"PARANO\";s:10:\"\u0000*\u0000aufirst\";s:1:\"E\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:9:\"PAVONE, L\";i:1;s:13:\"FALSAPERLA, R\";i:2;s:13:\"TRIFILETTI, R\";i:3;s:7:\"WANG, C\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"ANNED3\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:40:\"National Meeting Child Neurology Society\";s:8:\"\u0000*\u0000title\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:8:\"\u0000*\u0000place\";s:7:\"Hoboken\";s:6:\"\u0000*\u0000pub\";s:11:\"Willey-Liss\";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:21:\"10.1002\/ana.410400219\";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:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:21:\"10.1002\/ana.410400219\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Annals of neurology\";s:9:\"\u0000*\u0000stitle\";s:11:\"Ann. neurol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"40\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"247\";s:8:\"\u0000*\u0000epage\";s:3:\"251\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0364-5134\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"PARANO\";s:10:\"\u0000*\u0000aufirst\";s:1:\"E\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:9:\"PAVONE, L\";i:1;s:13:\"FALSAPERLA, R\";i:2;s:13:\"TRIFILETTI, R\";i:3;s:7:\"WANG, C\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"ANNED3\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:40:\"National Meeting Child Neurology Society\";s:8:\"\u0000*\u0000title\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:8:\"\u0000*\u0000place\";s:7:\"Hoboken\";s:6:\"\u0000*\u0000pub\";s:11:\"Willey-Liss\";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:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:21:\"10.1002\/ana.410400219\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Annals of neurology\";s:9:\"\u0000*\u0000stitle\";s:11:\"Ann. neurol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"40\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"247\";s:8:\"\u0000*\u0000epage\";s:3:\"251\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0364-5134\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"PARANO\";s:10:\"\u0000*\u0000aufirst\";s:1:\"E\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:9:\"PAVONE, L\";i:1;s:13:\"FALSAPERLA, R\";i:2;s:13:\"TRIFILETTI, R\";i:3;s:7:\"WANG, C\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"ANNED3\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:40:\"National Meeting Child Neurology Society\";s:8:\"\u0000*\u0000title\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:8:\"\u0000*\u0000place\";s:7:\"Hoboken\";s:6:\"\u0000*\u0000pub\";s:11:\"Willey-Liss\";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:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:21:\"10.1002\/ana.410400219\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Annals of neurology\";s:9:\"\u0000*\u0000stitle\";s:11:\"Ann. neurol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"40\";s:8:\"\u0000*\u0000issue\";s:1:\"2\";s:8:\"\u0000*\u0000spage\";s:3:\"247\";s:8:\"\u0000*\u0000epage\";s:3:\"251\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0364-5134\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"PARANO\";s:10:\"\u0000*\u0000aufirst\";s:1:\"E\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:9:\"PAVONE, L\";i:1;s:13:\"FALSAPERLA, R\";i:2;s:13:\"TRIFILETTI, R\";i:3;s:7:\"WANG, C\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"ANNED3\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:40:\"National Meeting Child Neurology Society\";s:8:\"\u0000*\u0000title\";s:84:\"Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy\";s:8:\"\u0000*\u0000place\";s:7:\"Hoboken\";s:6:\"\u0000*\u0000pub\";s:11:\"Willey-Liss\";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
