Please use this identifier to cite or link to this item:
http://sgc.anlis.gob.ar/handle/123456789/2399| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Gisatulin, Maria | es |
| dc.contributor.author | Rossi, Malco | es |
| dc.contributor.author | Perandones, Claudia | es |
| dc.contributor.author | Klein, Christine | es |
| dc.contributor.author | Lohmann, Katja | es |
| dc.contributor.author | Merello, Marcelo | es |
| dc.date.accessioned | 2021-11-11T14:56:09Z | - |
| dc.date.available | 2021-11-11T14:56:09Z | - |
| dc.date.issued | 2021-08 | - |
| dc.identifier.uri | http://sgc.anlis.gob.ar/handle/123456789/2399 | - |
| dc.description | Fil. Gisatulin, María. Instituto de Neurogenética, Universidad de Lübeck, Lübeck, Alemania. | es |
| dc.description | Fil. Rossi, Malco. Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina. Consejo Nacional de Investigaciones Científicas y Tecnológicas de Argentina (CONICET), Argentina. | es |
| dc.description | Fil. Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Unidad Ejecutora de Formación y Educación Superior; Argentina. | es |
| dc.description | Fil. Klein, Christine. Instituto de Neurogenética, Universidad de Lübeck, Lübeck, Alemania. | es |
| dc.description | Fil. Lohmann, Katja. Instituto de Neurogenética, Universidad de Lübeck, Lübeck, Alemania. | es |
| dc.description | Fil. Merello, Marcelo. Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina. Consejo Nacional de Investigaciones Científicas y Tecnológicas de Argentina (CONICET), Argentina; Pontificia Universidad Católica Argentina (UCA), Argentina. | es |
| dc.description.abstract | Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family. | es |
| dc.language.iso | en | es |
| dc.relation.ispartof | Parkinsonism & related disorders | es |
| dc.subject | Enfermedad de Parkinson | es |
| dc.subject | Enfermedad de Charcot-Marie-Tooth | es |
| dc.subject | Secuenciación del Exoma Completo | es |
| dc.title | Involuntary moaning in a Hispanic family with eight affected members | es |
| dc.type | Artículo | es |
| dc.identifier.doi | 10.1016/j.parkreldis.2021.03.023 | - |
| item.fulltext | With Fulltext | - |
| item.openairetype | Artículo | - |
| item.grantfulltext | open | - |
| item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
| item.cerifentitytype | Publications | - |
| item.languageiso639-1 | en | - |
| crisitem.author.dept | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
| Appears in Collections: | Publicaciones UEFES | |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| 1-s2.0-S1353802021001164-main uefes cv 1.pdf | Artículo en inglés | 511.39 kB | Adobe PDF | View/Open |
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