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Title: | Involuntary moaning in a Hispanic family with eight affected members | Authors: | Gisatulin, Maria Rossi, Malco Perandones, Claudia Klein, Christine Lohmann, Katja Merello, Marcelo |
Keywords: | Enfermedad de Parkinson;Enfermedad de Charcot-Marie-Tooth;Secuenciación del Exoma Completo | Issue Date: | Aug-2021 | Journal: | Parkinsonism & related disorders | 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. |
Description: | Fil. Gisatulin, María. Instituto de Neurogenética, Universidad de Lübeck, Lübeck, Alemania. Fil. Rossi, Malco. Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina. Consejo Nacional de Investigaciones Científicas y Tecnológicas de Argentina (CONICET), Argentina. Fil. Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Unidad Ejecutora de Formación y Educación Superior; Argentina. Fil. Klein, Christine. Instituto de Neurogenética, Universidad de Lübeck, Lübeck, Alemania. Fil. Lohmann, Katja. Instituto de Neurogenética, Universidad de Lübeck, Lübeck, Alemania. 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. |
URI: | http://sgc.anlis.gob.ar/handle/123456789/2399 | DOI: | 10.1016/j.parkreldis.2021.03.023 |
Appears in Collections: | Publicaciones UEFES |
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1-s2.0-S1353802021001164-main uefes cv 1.pdf | Artículo en inglés | 511.39 kB | Adobe PDF | View/Open |
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