CSF1R mutations link POLD and HDLS as a single disease entity (Q36841490)

16 August 2017

CSF1R mutations link POLD and HDLS as a single disease entity (English)

1 reference

16 August 2017

10

1 reference

16 August 2017

9

Zbigniew K Wszolek

1 reference

16 August 2017

12

Rosa Rademakers

1 reference

16 August 2017

11

David S Knopman

1 reference

16 August 2017

Alexandra M Nicholson

1

1 reference

16 August 2017

Matt C Baker

2

1 reference

16 August 2017

Nicole A Finch

3

1 reference

16 August 2017

Nicola J Rutherford

4

1 reference

16 August 2017

Christian Wider

5

1 reference

16 August 2017

Neill R Graff-Radford

6

1 reference

16 August 2017

Peter T Nelson

7

1 reference

16 August 2017

H Brent Clark

8

1 reference

16 August 2017

language of work or name

English

0 references

publication date

13 February 2013

1 reference

16 August 2017

1 reference

16 August 2017

80

1 reference

16 August 2017

11

1 reference

16 August 2017

1033-1040

1 reference

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia can present as frontotemporal dementia syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Microarray analysis of RNA processing and modification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Hereditary diffuse leucoencephalopathy with spheroids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Adult pigment type (Peiffer) of sudanophilic leukodystrophy. Pathological and morphometrical studies on two autopsy cases of siblings

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

The dominant form of the pigmentary orthochromatic leukodystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Pigmentary type of orthochromatic leukodystrophy (OLD): a new case with ultrastructural and biochemical study.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Leucodystrophy with pigmented glial and scavenger cells (pigmentary type of orthochromatic leucodystrophy).

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Pigmentary orthochromatic leukodystrophy. Van Bogaert and Nyssen disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Zygomatic osteotomy for resection of medial temporal cavernous angioma in dominant hemisphere after subdural grid electroencephalographic study.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Progressive familial leukodystrophy of late onset.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

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.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653204

Hereditary diffuse leucoencephalopathy with spheroids

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23408870

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

CLINICAL, ANATOMOPATHOLOGIC AND GENEALOGIC STUDY OF A LATE ADULT LEUKODYSTROPHY

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23408870

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A comparative morphologic analysis of adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia--a role for oxidative damage

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23408870

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E31828726A7

1 reference

16 August 2017

1 reference

16 August 2017

1 reference