Registro completo de metadatos
| Campo DC | Valor | Lengua/Idioma |
|---|---|---|
| dc.creator | Fernández Suarez, M. | - |
| dc.creator | Surace, Ezequiel Ignacio | - |
| dc.creator | Harris, Paula | - |
| dc.creator | Tapajoz Pereira de Sampaio, Fernanda | - |
| dc.creator | Sevlever, Gustavo | - |
| dc.creator | Allegri, Ricardo Francisco | - |
| dc.creator | Russo, G. N. | - |
| dc.date | 2018-06-01T15:58:21Z | - |
| dc.date | 2018-06-01T15:58:21Z | - |
| dc.date | 2016-06 | - |
| dc.date | 2018-05-31T15:03:48Z | - |
| dc.date.accessioned | 2019-04-29T15:40:28Z | - |
| dc.date.available | 2019-04-29T15:40:28Z | - |
| dc.date.issued | 2018-06-01T15:58:21Z | - |
| dc.date.issued | 2018-06-01T15:58:21Z | - |
| dc.date.issued | 2016-06 | - |
| dc.date.issued | 2018-05-31T15:03:48Z | - |
| dc.identifier | Fernández Suarez, M.; Surace, Ezequiel Ignacio; Harris, Paula; Tapajoz Pereira de Sampaio, Fernanda; Sevlever, Gustavo; et al.; C9ORF72 G 4 C 2 -repeat expansion and frontotemporal dementia first reported case in Argentina; Routledge Journals, Taylor & Francis Ltd; Neurocase; 22; 3; 6-2016; 281-284 | - |
| dc.identifier | 1355-4794 | - |
| dc.identifier | http://hdl.handle.net/11336/46979 | - |
| dc.identifier | CONICET Digital | - |
| dc.identifier | CONICET | - |
| dc.identifier.uri | http://rodna.bn.gov.ar:8080/jspui/handle/bnmm/299172 | - |
| dc.description | We present a female patient aged 51 who developed behavioral disorders followed by cognitive impairment over 3 years. Neuropsychological, neuropsychiatric, and radiological features suggested a probable behavioral variant of frontotemporal dementia (bvFTD). A family history of amyotrophic lateral sclerosis and parkinsonism suggested the hexanucleotide repeat expansion G4C2 in C9ORF72 . We set up a two-step genotyping algorithm for the detection of the expansion using fragment-length analysis polymerase chain reaction (PCR) and repeat-primed PCR with fluorescent primers. We confirmed the presence of an expanded G4C2 allele in the patient. This represents the first documented case of bvFTD due to a C9ORF72 expansion in Argentina. | - |
| dc.description | Fil: Fernández Suarez, M.. Sanatorio de los Arcos; Argentina | - |
| dc.description | Fil: Surace, Ezequiel Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina | - |
| dc.description | Fil: Harris, Paula. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina | - |
| dc.description | Fil: Tapajoz Pereira de Sampaio, Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina | - |
| dc.description | Fil: Sevlever, Gustavo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina | - |
| dc.description | Fil: Allegri, Ricardo Francisco. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina | - |
| dc.description | Fil: Russo, G. N.. Sanatorio de los Arcos; Argentina | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| dc.language | eng | - |
| dc.publisher | Routledge Journals, Taylor & Francis Ltd | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1080/13554794.2016.1186700 | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.1080/13554794.2016.1186700 | - |
| dc.rights | info:eu-repo/semantics/restrictedAccess | - |
| dc.rights | https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ | - |
| dc.source | reponame:CONICET Digital (CONICET) | - |
| dc.source | instname:Consejo Nacional de Investigaciones Científicas y Técnicas | - |
| dc.source | instacron:CONICET | - |
| dc.subject | Frontotemporal Dementia | - |
| dc.subject | Motoneuron disease | - |
| dc.subject | C9ORF72 | - |
| dc.subject | Amyotrophic lateral sclerosis | - |
| dc.subject | Medicina Critica y de Emergencia | - |
| dc.subject | Medicina Clínica | - |
| dc.subject | CIENCIAS MÉDICAS Y DE LA SALUD | - |
| dc.title | C9ORF72 G 4 C 2 -repeat expansion and frontotemporal dementia first reported case in Argentina | - |
| dc.type | info:eu-repo/semantics/article | - |
| dc.type | info:eu-repo/semantics/publishedVersion | - |
| dc.type | info:ar-repo/semantics/articulo | - |
| Aparece en las colecciones: | CONICET | |
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