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Involuntary moaning in a Hispanic family with eight affected members

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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


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