X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene-Reference-Cited by-同舟云学术

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Published:2017-11 Issue: Volume:44 Page:142-146
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Ciammola Andrea,Carrera Paola,Di Fonzo Alessio,Sassone Jenny,Villa Roberta,Poletti Barbara,Ferrari Maurizio,Girotti Floriano,Monfrini Edoardo,Buongarzone Gabriele,Silani Vincenzo,Cinnante Claudia Maria,Mignogna Maria Lidia,D'Adamo Patrizia,Bonati Maria Teresa

Funder

Ministry of Health ‘Ricerca Corrente’

Fondazione Umberto Veronesi fellowship program

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference12 articles.

1. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly;Giannandrea;Am. J. Hum. Genet.,2010

2. Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains;Vanmarsenille;Hum. Mutat.,2014

3. Mutations in RAB39B cause X-Linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology;Wilson;Am. J. Hum. Genet.,2014

4. The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease;Mata;Mol. Neurodegener.,2015

5. French Parkinson's disease genetics study group (PDG) and the international Parkinson's disease genomics consortium (IPDGC). Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease;Lesage;Neurol. Genet.,2015

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