Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes.

Sudhaman, Sumedha; Muthane, Uday B; Behari, Madhuri; Govindappa, Shyla T; Juyal, Ramesh C; Thelma, B K

Sudhaman, Sumedha; Muthane, Uday B; Behari, Madhuri; Govindappa, Shyla T; Juyal, Ramesh C; Thelma, B K.

Sudhaman S; Department of Genetics, University of Delhi South Campus, New Delhi, India.
Muthane UB; Parkinson's and Ageing Research Foundation, Bengaluru, Karnataka, India.
Behari M; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Govindappa ST; Parkinson's and Ageing Research Foundation, Bengaluru, Karnataka, India.
Juyal RC; Regional Center for Biotechnology, Faridabad, Haryana, India.
Thelma BK; Department of Genetics, University of Delhi South Campus, New Delhi, India.

J Med Genet ; 53(8): 559-66, 2016 08.

Article en En | MEDLINE | ID: mdl-27055476

Asunto(s)

Péptidos y Proteínas de Señalización Intracelular/genética; Chaperonas Moleculares/genética; Mutación/genética; Enfermedad de Parkinson/genética; Receptores Colinérgicos/genética; Anciano; Animales; Línea Celular Tumoral; Exoma/genética; Femenino; Predisposición Genética a la Enfermedad/genética; Heterocigoto; Humanos; Masculino; Persona de Mediana Edad; Células PC12; Linaje; Fenotipo; Ratas; Receptor Nicotínico de Acetilcolina alfa 7/genética

Palabras clave

Clinical genetics; Genetics; Genome-wide; Neurosciences; Parkinson-s disease

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Receptores Colinérgicos / Chaperonas Moleculares / Péptidos y Proteínas de Señalización Intracelular / Mutación Límite: Aged / Animals / Female / Humans / Male / Middle aged Idioma: En Año: 2016 Tipo del documento: Article

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