Involuntary moaning in a Hispanic family with eight affected members

Gisatulin, Maria; Rossi, Malco Damián; Perandones, Claudia; Klein, Christine; Lohmann, Katja; Merello, Marcelo

dc.contributor.author	Gisatulin, Maria
dc.contributor.author	Rossi, Malco Damián
dc.contributor.author	Perandones, Claudia
dc.contributor.author	Klein, Christine
dc.contributor.author	Lohmann, Katja
dc.contributor.author	Merello, Marcelo
dc.date.accessioned	2021-04-20T13:47:16Z
dc.date.available	2021-04-20T13:47:16Z
dc.date.issued	2021-03-26
dc.identifier.citation	Gisatulin M, Rossi MD, Perandones C, Klein C, Lohmann K, Merello M. Involuntary moaning in a Hispanic family with eight affected members. Parkinsonism Relat Disord. 2021 Mar 26:S1353-8020(21)00116-4. doi: 10.1016/j.parkreldis.2021.03.023	es_ES
dc.identifier.uri	https://doi.org/10.1016/j.parkreldis.2021.03.023
dc.identifier.uri	https://repositorio.fleni.org.ar/xmlui/handle/123456789/417
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_ES
dc.language.iso	eng	es_ES
dc.publisher	Elsevier	es_ES
dc.rights	info:eu-repo/semantics/openAccess
dc.rights.uri	https://creativecommons.org/licenses/by/2.5/ar/
dc.subject	Parkinson Disease	es_ES
dc.subject	Enfermedad de Parkinson	es_ES
dc.subject	Charcot-Marie-Tooth Disease	es_ES
dc.subject	Enfermedad de Charcot-Marie-Tooth	es_ES
dc.subject	Whole Exome Sequencing	es_ES
dc.subject	Secuenciación del Exoma Completo	es_ES
dc.title	Involuntary moaning in a Hispanic family with eight affected members	es_ES
dc.type	info:eu-repo/semantics/article	es_ES
dc.type	info:eu-repo/semantics/publishedVersion
dc.description.fil	Fil: Gisatulin, Maria. University of Lübeck; Alemania.
dc.description.fil	Fil: Rossi, Malco Damián. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas de Argentina; Argentina.
dc.description.fil	Fil: Perandones, Claudia. Ministerio de Salud. Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos Malbrán”; Argentina.
dc.description.fil	Fil: Klein, Christine. University of Lübeck; Alemania.
dc.description.fil	Fil: Lohmann, Katja. University of Lübeck; Alemania.
dc.description.fil	Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas de Argentina; Argentina. Pontificia Universidad Católica Argentina; Argentina.
dc.relation.ispartofCOUNTRY	Reino Unido
dc.relation.ispartofCITY	Kidlington
dc.relation.ispartofTITLE	Parkinsonism & related disorders
dc.relation.ispartofISSN	1873-5126
dc.type.snrd	info:ar-repo/semantics/artículo	es_ES