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A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

artículo científico publicado en 2015

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

artículo científico publicado en 2016

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

artículo científico publicado en 2014

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

scientific article published on 04 July 2016

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

artículo científico publicado en 2014

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

artículo científico publicado en 2015

Heritability and genetic variance of dementia with Lewy bodies

scientific article published on 03 April 2019

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

artículo científico publicado en 2017

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

artículo científico publicado en 2015

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

artículo científico publicado en 2015

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

artículo científico publicado en 2017

Prion protein gene mutation detection using long-read Nanopore sequencing

artículo científico publicado en 2022

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

artículo científico publicado en 2016

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