(Q38027808)

27 August 2017

title

Genetics of dementia: update and guidelines for the clinician (English)

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27 August 2017

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Yolande A L Pijnenburg

series ordinal

3

object named as

Yolande A L Pijnenburg

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27 August 2017

Petra E Cohn-Hokke

1

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27 August 2017

Mariet W Elting

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2

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27 August 2017

John C van Swieten

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4

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27 August 2017

publication date

19 July 2012

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

27 August 2017

published in

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27 August 2017

volume

159B

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27 August 2017

issue

6

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27 August 2017

page(s)

628-643

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Dementia, delusions and seizures: storage disease or genetic AD?

27 August 2017

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Serial PIB and MRI in normal, mild cognitive impairment and Alzheimer's disease: implications for sequence of pathological events in Alzheimer's disease

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia

21 January 2018

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21 January 2018

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A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid

21 January 2018

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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

21 January 2018

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Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

21 January 2018

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21 January 2018

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21 January 2018

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The molecular basis of frontotemporal dementia

21 January 2018

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Prospective 10-year surveillance of human prion diseases in Japan.

21 January 2018

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The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy

21 January 2018

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Frequency and causes of early-onset dementia in a tertiary referral center in Athens

21 January 2018

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Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

21 January 2018

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Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

21 January 2018

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Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management

21 January 2018

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Amyloid-independent mechanisms in Alzheimer's disease pathogenesis

21 January 2018

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Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

21 January 2018

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Genetic counseling for frontotemporal dementias

21 January 2018

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A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.

21 January 2018

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Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

21 January 2018

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The prevalence of frontotemporal dementia

21 January 2018

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Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Phenotypic correlations in FTDP-17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

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Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

21 January 2018

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A decade of genetic counseling in frontotemporal dementia affected families: few counseling requests and much familial opposition to testing

21 January 2018

1 reference

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Prevalence and patterns of cognitive impairment in sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Genetic risk assessment for adult children of people with Alzheimer's disease: the Risk Evaluation and Education for Alzheimer's Disease (REVEAL) study.

21 January 2018

1 reference

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Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

21 January 2018

1 reference

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Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene

21 January 2018

1 reference

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The heritability and genetics of frontotemporal lobar degeneration.

21 January 2018

1 reference

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Emotional responses to APO E genotype disclosure for Alzheimer disease

21 January 2018

1 reference

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Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.

21 January 2018

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The diagnosis of young-onset dementia.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.B.32080

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

21 January 2018

1 reference

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Glucose metabolism and PIB binding in carriers of a His163Tyr presenilin 1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Distinct genetic forms of frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration

21 January 2018

1 reference

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Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.

21 January 2018

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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

21 January 2018

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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

21 January 2018

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

21 January 2018

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APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

21 January 2018

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Linking Abeta and tau in late-onset Alzheimer's disease: a dual pathway hypothesis

21 January 2018

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The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene

21 January 2018

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Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

21 January 2018

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21 January 2018

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21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Familial aggregation in frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Familial frontotemporal dementia associated with a novel presenilin-1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Amyloid precursor protein trafficking, processing, and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Genetic contribution of FUS to frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Hereditary frontotemporal dementia caused by Tau gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32080

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32080

1 reference

27 August 2017

1 reference