(Q51762755)

6 July 2018

title

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. (English)

1 reference

6 July 2018

author

Claire Troakes

6

1 reference

http://europepmc.org/abstract/MED/29544907

11 April 2018

Angela Hodges

30

1 reference

http://europepmc.org/abstract/MED/29544907

11 April 2018

James Turton

James Turton

12

0 references

Kevin Morgan

Kevin Morgan

23

0 references

Ulrich Dirnagl

22

Ulrich Dirnagl

1 reference

6 July 2018

31

John Hardy

1 reference

6 July 2018

29

Rita Guerreiro

1 reference

6 July 2018

28

Andrew B Singleton

1 reference

6 July 2018

5

Michelle K Lupton

1 reference

6 July 2018

Perry G Ridge

3

Perry G Ridge

1 reference

6 July 2018

Jenny Lord

11

Jenny Lord

1 reference

6 July 2018

7

Katie Lunnon

1 reference

6 July 2018

1

Celeste Sassi

1 reference

6 July 2018

10

Christopher Medway

1 reference

6 July 2018

8

Safa Al-Sarraj

1 reference

6 July 2018

Michael A Nalls

2

1 reference

6 July 2018

Jesse R Gibbs

4

1 reference

6 July 2018

Kristelle S Brown

9

1 reference

6 July 2018

Jose Bras

13

1 reference

6 July 2018

ARUK Consortium

14

1 reference

6 July 2018

Sonja Blumenau

15

1 reference

6 July 2018

Mareike Thielke

16

1 reference

6 July 2018

Christa Josties

17

1 reference

6 July 2018

Dorette Freyer

18

1 reference

6 July 2018

Annette Dietrich

19

1 reference

6 July 2018

Monia Hammer

20

1 reference

6 July 2018

Michael Baier

21

1 reference

6 July 2018

John F Powell

24

1 reference

6 July 2018

John S Kauwe

25

1 reference

6 July 2018

Carlos Cruchaga

26

1 reference

6 July 2018

Alison M Goate

27

1 reference

6 July 2018

publication date

2 February 2018

1 reference

6 July 2018

published in

Neurobiology of Aging

1 reference

6 July 2018

volume

66

1 reference

6 July 2018

page(s)

179.e17-179.e29

1 reference

6 July 2018

Clinical and genetic characterization of leukoencephalopathies in adults

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10 July 2018

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10 July 2018

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10 July 2018

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10 July 2018

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Colony-stimulating factor 1 receptor (CSF1R) signaling in injured neurons facilitates protection and survival

10 July 2018

1 reference

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TREM2 Variants in Alzheimer's Disease

10 July 2018

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A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

10 July 2018

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Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease

10 July 2018

1 reference

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Understanding the contribution of synonymous mutations to human disease

10 July 2018

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Interleukin-34 selectively enhances the neuroprotective effects of microglia to attenuate oligomeric amyloid-β neurotoxicity

10 July 2018

1 reference

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Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

The diagnosis of young-onset dementia.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Macrophage colony-stimulating factor induces the proliferation and survival of macrophages via a pathway involving DAP12 and beta-catenin

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Phosphorylation of the translation initiation factor eIF2alpha increases BACE1 levels and promotes amyloidogenesis

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

The spectrum of mutations for the diagnosis of vanishing white matter disease.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Implications of the serine protease HtrA1 in amyloid precursor protein processing

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Coexistence of CADASIL and Alzheimer's disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Dementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophy.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Expression of macrophage colony-stimulating factor receptor is increased in the AbetaPP(V717F) transgenic mouse model of Alzheimer's disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

White matter lesions on magnetic resonance imaging in dementia with Lewy bodies, Alzheimer's disease, vascular dementia, and normal aging

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

A cortical form of CADASIL with cerebral Aβ amyloidosis.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Neurological picture. Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Powerful beneficial effects of macrophage colony-stimulating factor on beta-amyloid deposition and cognitive impairment in Alzheimer's disease.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Late-onset neuroaxonal leucoencephalopathy with spheroids and vascular amyloid.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

White matter volumes and periventricular white matter hyperintensities in aging and dementia.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Expression of the receptor for macrophage colony stimulating factor by brain microglia and its upregulation in brains of patients with Alzheimer's disease and amyotrophic lateral sclerosis.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5937905

Progressive neuropsychiatric symptoms and motor impairment

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29544907

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2018.01.015

1 reference

6 July 2018

PMCID

5937905

1 reference

6 July 2018

PubMed ID

29544907

1 reference

6 July 2018