(Q35705431)

9 August 2017

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

1 reference

Hereditary diffuse leukoencephalopathy with spheroids

9 August 2017

0 references

author

Dennis W. Dickson

37

1 reference

Mariely DeJesus-Hernandez

9 August 2017

10

Mariely DeJesus-Hernandez

0 references

Shawn Levy

Shawn Levy

31

0 references

Ryan J Uitti

27

Ryan Uitti

1 reference

9 August 2017

38

Zbigniew K Wszolek

1 reference

9 August 2017

1

Rosa Rademakers

1 reference

9 August 2017

21

Ronald C Petersen

1 reference

9 August 2017

34

Owen A Ross

1 reference

9 August 2017

20

David S Knopman

1 reference

9 August 2017

19

Bradley F Boeve

1 reference

9 August 2017

22

Nigel J Cairns

1 reference

9 August 2017

23

Bernardino Ghetti

1 reference

9 August 2017

30

James F Meschia

1 reference

9 August 2017

Neill R Graff-Radford

33

Neill Graff-Radford

1 reference

9 August 2017

36

Russell H Swerdlow

1 reference

9 August 2017

2

Matt Baker

1 reference

9 August 2017

3

Alexandra M Nicholson

1 reference

9 August 2017

5

NiCole Finch

1 reference

9 August 2017

12

Naomi Kouri

1 reference

Aleksandra Semeniuk-Wojtaś

9 August 2017

9

Aleksandra Wojtas

1 reference

9 August 2017

29

Jay A Van Gerpen

1 reference

Alexandra I Soto-Ortolaza

9 August 2017

6

Alexandra Soto-Ortolaza

1 reference

9 August 2017

17

Sigrun Roeber

1 reference

9 August 2017

18

Hans A Kretzschmar

1 reference

9 August 2017

32

Daniel F Broderick

1 reference

9 August 2017

13

Christina Sundal

1 reference

9 August 2017

14

Elizabeth A Shuster

1 reference

9 August 2017

25

James Garbern

1 reference

9 August 2017

Nicola J Rutherford

4

1 reference

9 August 2017

Jennifer Lash

7

1 reference

9 August 2017

Christian Wider

8

1 reference

9 August 2017

Jennifer Adamson

11

1 reference

9 August 2017

Jan Aasly

15

1 reference

9 August 2017

James MacKenzie

16

1 reference

9 August 2017

Salvatore Spina

24

1 reference

9 August 2017

Alexandros C Tselis

26

1 reference

9 August 2017

Pritam Das

28

1 reference

9 August 2017

Bradley B Miller

35

1 reference

9 August 2017

language of work or name

English

0 references

publication date

25 December 2011

1 reference

9 August 2017

1 reference

9 August 2017

44

1 reference

9 August 2017

2

1 reference

9 August 2017

200-205

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.1027

9 August 2017

0 references

cites work

Axonal and neuronal pathology in multiple sclerosis: what have we learnt from animal models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Fast and accurate short read alignment with Burrows-Wheeler transform

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

CSF1R copy number changes, point mutations, and RNA and protein overexpression in renal cell carcinomas

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Invited article: an MRI-based approach to the diagnosis of white matter disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Accurate whole human genome sequencing using reversible terminator chemistry

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

CSF-1 regulation of the wandering macrophage: complexity in action

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Proteomic approaches to the analysis of early events in colony-stimulating factor-1 signal transduction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Hereditary diffuse leucoencephalopathy with spheroids

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Oncogenic kinase signalling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Nasu-Hakola disease: a review of its leukoencephalopathic and membranolipodystrophic features

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Regulation of MCSF receptors on microglia in the normal and injured mouse central nervous system: a quantitative immunofluorescence study using confocal laser microscopy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

CSF-1 signal transduction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Alterations in glia and axons in the brains of Binswanger's disease patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Biology and action of colony--stimulating factor-1

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Identification and subcellular localization of proteins that are rapidly phosphorylated in tyrosine in response to colony-stimulating factor 1

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

FMS mutations in myelodysplastic, leukemic, and normal subjects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Human immunodeficiency virus (HIV) leukoencephalopathy and the microcirculation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Leukoencephalopathy with neuroaxonal spheroids presenting as frontotemporal dementia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Mutations in TREM2 lead to pure early-onset dementia without bone cysts.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Late-onset neuroaxonal leucoencephalopathy with spheroids and vascular amyloid.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Neuroaxonal leukoencephalopathy with axonal spheroids.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Expression of colony stimulating factor-1 receptor (CSF-1R) by CNS neurons in mice.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

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.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267847

Nasu-Hakola disease and primary microglial dysfunction

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22197934

12 December 2020

inferred from PubMed ID database lookup

Hereditary diffuse leucoencephalopathy with spheroids

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22197934

12 December 2020

inferred from PubMed ID database lookup

Autosomal dominant subcortical gliosis presenting as frontotemporal dementia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22197934

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.1027

1 reference

release_7gxwfd2kdffqjpuvzs3s3eyjte

9 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7gxwfd2kdffqjpuvzs3s3eyjte

24 November 2022

mapped directly with Wikidata item

PMCID

3267847

1 reference

9 August 2017

1 reference