Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.

Antonelli, Francesca; Grieco, Gaetano; Cavallieri, Francesco; Casella, Antonella; Valente, Enza Maria

Antonelli, Francesca; Grieco, Gaetano; Cavallieri, Francesco; Casella, Antonella; Valente, Enza Maria.

Afiliación

Antonelli F; Neurological Clinic, Neurosciences Department, University of Modena and Reggio Emilia, Reggio Emilia, Italy. Electronic address: antonelli.f@gmail.com.
Grieco G; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
Cavallieri F; Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy; Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Italy.
Casella A; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Valente EM; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Parkinsonism Relat Disord ; 94: 22-24, 2022 01.

Article en En | MEDLINE | ID: mdl-34864472

Asunto(s)

Distonía; Trastornos Distónicos; Adolescente; Adulto; Ataxia/complicaciones; Proteínas Portadoras/genética; Niño; Distonía/complicaciones; Distonía/genética; Trastornos Distónicos/genética; Heterocigoto; Humanos; Mutación; Proteínas Nucleares/genética; Síndrome

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Distónicos / Distonía Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Child / Humans Idioma: En Revista: Parkinsonism Relat Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido

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