C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke
ABSTRACT: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor–like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred...
- Autores:
-
Arboleda Velásquez, Joseph Fitzgerald
Lopera Restrepo, Francisco Javier
López Alzate, María Elizabeth
Frosch, Matthew P.
Sepúlveda Falla, Diego
Gutiérrez, Juan E.
Vargas, S.
Álvarez Medina, María de Lourdes
Medina, M.
Martínez de Arrieta, C.
Lebo, R. V.
Slaugenhaupt, S. A.
Betensky, Rebecca A.
Sánchez Villegas, Almudena
Arcos Burgos, Oscar Mauricio
Rivera, D.
Restrepo Medrano, Juan Carlos
Kosik, Kenneth S.
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2002
- Institución:
- Universidad de Antioquia
- Repositorio:
- Repositorio UdeA
- Idioma:
- eng
- OAI Identifier:
- oai:bibliotecadigital.udea.edu.co:10495/24425
- Acceso en línea:
- http://hdl.handle.net/10495/24425
- Palabra clave:
- Receptor Notch3
Receptor, Notch3
CADASIL
Accidente Cerebrovascular
Stroke
- Rights
- openAccess
- License
- http://creativecommons.org/licenses/by-nc-nd/2.5/co/
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| dc.title.spa.fl_str_mv |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke |
| title |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke |
| spellingShingle |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke Receptor Notch3 Receptor, Notch3 CADASIL Accidente Cerebrovascular Stroke |
| title_short |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke |
| title_full |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke |
| title_fullStr |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke |
| title_full_unstemmed |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke |
| title_sort |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke |
| dc.creator.fl_str_mv |
Arboleda Velásquez, Joseph Fitzgerald Lopera Restrepo, Francisco Javier López Alzate, María Elizabeth Frosch, Matthew P. Sepúlveda Falla, Diego Gutiérrez, Juan E. Vargas, S. Álvarez Medina, María de Lourdes Medina, M. Martínez de Arrieta, C. Lebo, R. V. Slaugenhaupt, S. A. Betensky, Rebecca A. Sánchez Villegas, Almudena Arcos Burgos, Oscar Mauricio Rivera, D. Restrepo Medrano, Juan Carlos Kosik, Kenneth S. |
| dc.contributor.author.none.fl_str_mv |
Arboleda Velásquez, Joseph Fitzgerald Lopera Restrepo, Francisco Javier López Alzate, María Elizabeth Frosch, Matthew P. Sepúlveda Falla, Diego Gutiérrez, Juan E. Vargas, S. Álvarez Medina, María de Lourdes Medina, M. Martínez de Arrieta, C. Lebo, R. V. Slaugenhaupt, S. A. Betensky, Rebecca A. Sánchez Villegas, Almudena Arcos Burgos, Oscar Mauricio Rivera, D. Restrepo Medrano, Juan Carlos Kosik, Kenneth S. |
| dc.subject.decs.none.fl_str_mv |
Receptor Notch3 Receptor, Notch3 CADASIL Accidente Cerebrovascular Stroke |
| topic |
Receptor Notch3 Receptor, Notch3 CADASIL Accidente Cerebrovascular Stroke |
| description |
ABSTRACT: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor–like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation. |
| publishDate |
2002 |
| dc.date.issued.none.fl_str_mv |
2002 |
| dc.date.accessioned.none.fl_str_mv |
2021-11-29T16:31:11Z |
| dc.date.available.none.fl_str_mv |
2021-11-29T16:31:11Z |
| dc.type.spa.fl_str_mv |
info:eu-repo/semantics/article |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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info:eu-repo/semantics/publishedVersion |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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https://purl.org/redcol/resource_type/ART |
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Artículo de investigación |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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publishedVersion |
| dc.identifier.citation.spa.fl_str_mv |
Arboleda-Velasquez, J. F., Lopera, F., Lopez, E., Frosch, M. P., Sepulveda-Falla, D., Gutierrez, J. E., Vargas, S., Medina, M., Martinez De Arrieta, C., Lebo, R. V., Slaugenhaupt, S. A., Betensky, R. A., Villegas, A., Arcos-Burgos, M., Rivera, D., Restrepo, J. C., & Kosik, K. S. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology. [Online]. 2002. 59(2), 277–279. Available in: https://n.neurology.org/content/59/2/277 |
| dc.identifier.issn.none.fl_str_mv |
0028-3878 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10495/24425 |
| dc.identifier.doi.none.fl_str_mv |
10.1212/WNL.59.2.277 |
| dc.identifier.eissn.none.fl_str_mv |
1526-632X |
| identifier_str_mv |
Arboleda-Velasquez, J. F., Lopera, F., Lopez, E., Frosch, M. P., Sepulveda-Falla, D., Gutierrez, J. E., Vargas, S., Medina, M., Martinez De Arrieta, C., Lebo, R. V., Slaugenhaupt, S. A., Betensky, R. A., Villegas, A., Arcos-Burgos, M., Rivera, D., Restrepo, J. C., & Kosik, K. S. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology. [Online]. 2002. 59(2), 277–279. Available in: https://n.neurology.org/content/59/2/277 0028-3878 10.1212/WNL.59.2.277 1526-632X |
| url |
http://hdl.handle.net/10495/24425 |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.ispartofjournalabbrev.spa.fl_str_mv |
Neurology |
| dc.rights.spa.fl_str_mv |
info:eu-repo/semantics/openAccess |
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http://creativecommons.org/licenses/by-nc-nd/2.5/co/ |
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https://creativecommons.org/licenses/by-nc-nd/4.0/ |
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openAccess |
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http://creativecommons.org/licenses/by-nc-nd/2.5/co/ http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by-nc-nd/4.0/ |
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3 |
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application/pdf |
| dc.publisher.spa.fl_str_mv |
American Academy of Neurology Lippincott, Williams & Wilkins |
| dc.publisher.group.spa.fl_str_mv |
Emergencias y Desastres Genética Regeneración y Cáncer Grupo de Neurociencias de Antioquia |
| dc.publisher.place.spa.fl_str_mv |
Minneapolis, Estados Unidos |
| institution |
Universidad de Antioquia |
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Arboleda Velásquez, Joseph FitzgeraldLopera Restrepo, Francisco JavierLópez Alzate, María ElizabethFrosch, Matthew P.Sepúlveda Falla, DiegoGutiérrez, Juan E.Vargas, S.Álvarez Medina, María de LourdesMedina, M.Martínez de Arrieta, C.Lebo, R. V.Slaugenhaupt, S. A.Betensky, Rebecca A.Sánchez Villegas, AlmudenaArcos Burgos, Oscar MauricioRivera, D.Restrepo Medrano, Juan CarlosKosik, Kenneth S.2021-11-29T16:31:11Z2021-11-29T16:31:11Z2002Arboleda-Velasquez, J. F., Lopera, F., Lopez, E., Frosch, M. P., Sepulveda-Falla, D., Gutierrez, J. E., Vargas, S., Medina, M., Martinez De Arrieta, C., Lebo, R. V., Slaugenhaupt, S. A., Betensky, R. A., Villegas, A., Arcos-Burgos, M., Rivera, D., Restrepo, J. C., & Kosik, K. S. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology. [Online]. 2002. 59(2), 277–279. Available in: https://n.neurology.org/content/59/2/2770028-3878http://hdl.handle.net/10495/2442510.1212/WNL.59.2.2771526-632XABSTRACT: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor–like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.COL0023804COL0006769COL00107443application/pdfengAmerican Academy of NeurologyLippincott, Williams & WilkinsEmergencias y DesastresGenética Regeneración y CáncerGrupo de Neurociencias de AntioquiaMinneapolis, Estados Unidosinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTArtículo de investigaciónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-nd/4.0/C455R notch3 mutation in a Colombian CADASIL kindred with early onset of strokeReceptor Notch3Receptor, Notch3CADASILAccidente CerebrovascularStrokeNeurologyNeurology277279592ORIGINALRestrepoJuan_2002_C455RNotch3Mutation.pdfRestrepoJuan_2002_C455RNotch3Mutation.pdfArtículo de investigaciónapplication/pdf66661http://bibliotecadigital.udea.edu.co/bitstream/10495/24425/1/RestrepoJuan_2002_C455RNotch3Mutation.pdfef1fc4264b90da59a62abfb2e33bfe0bMD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8823http://bibliotecadigital.udea.edu.co/bitstream/10495/24425/2/license_rdfb88b088d9957e670ce3b3fbe2eedbc13MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81748http://bibliotecadigital.udea.edu.co/bitstream/10495/24425/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD5310495/24425oai:bibliotecadigital.udea.edu.co:10495/244252021-11-29 11:31:12.386Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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 |