The role of genetics in neurodegenerative dementia: a large cohort study in South China

PSEN1, PSEN2 , and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease

(2020) Longfei Jia et al.   Alzheimers & Dementia

A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer’s Disease Increases Aβ42/Aβ40 ratio

(2019) Qiongqiong Qiu et al.   JOURNAL OF ALZHEIMERS DISEASE

Prevalence of Biologically vs Clinically Defined Alzheimer Spectrum Entities Using the National Institute on Aging–Alzheimer’s Association Research Framework

(2019) Clifford R. Jack et al.   JAMA Neurology

Novel GRN Mutations in Alzheimer’s Disease and Frontotemporal Lobar Degeneration

(2018) Irene Piaceri et al.   JOURNAL OF ALZHEIMERS DISEASE

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

(2018) Rita Guerreiro et al.   LANCET NEUROLOGY

Genotype–phenotype links in frontotemporal lobar degeneration

(2018) Sara Van Mossevelde et al.   Nature Reviews Neurology

Two novel heterozygous HTRA1 mutations in two pedigrees with cerebral small vessel disease families

(2018) Wen-ying Zhang et al.   NEUROLOGICAL SCIENCES

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

A Review of the Familial Alzheimer’s Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1

(2018) Haowei Jiang et al.   JOURNAL OF ALZHEIMERS DISEASE

Predicting Development of Amyotrophic Lateral Sclerosis in Frontotemporal Dementia

(2017) Tim Van Langenhove et al.   JOURNAL OF ALZHEIMERS DISEASE

Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene

(2017) Anastasia Bougea et al.   PARKINSONISM & RELATED DISORDERS

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series

(2016) Natalie S Ryan et al.   LANCET NEUROLOGY

Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease

(2016) Tingting Xiao et al.   MOLECULAR NEUROBIOLOGY

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

(2016) Joshua T. Geiger et al.   NEUROBIOLOGY OF DISEASE

Distinct molecular mechanisms ofHTRA1mutants in manifesting heterozygotes with CARASIL

(2016) Hiroaki Nozaki et al.   NEUROLOGY

Molecular Genetics of Neurodegenerative Dementias

(2016) Flora I. Hinz et al.   Cold Spring Harbor Perspectives in Biology

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

(2016) Gamze Guven et al.   PLoS One

Mutation analysis ofCHCHD10in different neurodegenerative diseases

(2015) Ming Zhang et al.   BRAIN

HeterozygousHTRA1mutations are associated with autosomal dominant cerebral small vessel disease

(2015) Edgard Verdura et al.   BRAIN

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

(2014) Lora Bean et al.   GENETICS IN MEDICINE

Mutational analysis in early-onset familial Alzheimer's disease in Mainland China

(2014) Bin Jiao et al.   NEUROBIOLOGY OF AGING

A novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology

(2014) Petra Pasanen et al.   NEUROBIOLOGY OF AGING

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy

(2014) Senda Ajroud-Driss et al.   NEUROGENETICS

Progranulin in neurodegenerative disease

(2014) Terri L. Petkau et al.   TRENDS IN NEUROSCIENCES

Rare autosomal copy number variations in early-onset familial Alzheimer’s disease

(2013) B V Hooli et al.   MOLECULAR PSYCHIATRY

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

(2012) Giovanni Coppola et al.   HUMAN MOLECULAR GENETICS

Advances in understanding the molecular basis of frontotemporal dementia

(2012) Rosa Rademakers et al.   Nature Reviews Neurology

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

(2012) Sheng Jin et al.   Alzheimers Research & Therapy

APOE ϵ4 Increases Risk for Dementia in Pure Synucleinopathies

(2012) Debby Tsuang et al.   JAMA Neurology

Motor Neuron dysfunction in frontotemporal dementia

(2011) James R. Burrell et al.   BRAIN

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Alzheimer Disease–like Phenotype Associated With the c.154delA Mutation in Progranulin

(2010) Brendan J. Kelley et al.   ARCHIVES OF NEUROLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease

(2010) Alistair Church et al.   NEUROBIOLOGY OF AGING

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The heritability and genetics of frontotemporal lobar degeneration

(2009) J. D. Rohrer et al.   NEUROLOGY

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

(2009) Kenju Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson’s disease

(2008) K. Markopoulou et al.   ACTA NEUROPATHOLOGICA

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

(2008) Livia Bernardi et al.   NEUROBIOLOGY OF AGING

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

(2007) Anna Bersano et al.   NEUROBIOLOGY OF AGING