(Q37608835)

21 August 2017

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. (English)

1 reference

21 August 2017

0 references

Takuya Konno

1

0 references

Osamu Onodera

object named as

Osamu Onodera

21

0 references

Akiyoshi Kakita

22

object named as

Akiyoshi Kakita

1 reference

21 August 2017

Masayoshi Tada

2

1 reference

21 August 2017

Mari Tada

3

1 reference

21 August 2017

Akihide Koyama

4

1 reference

21 August 2017

Hiroaki Nozaki

5

1 reference

21 August 2017

Yasuo Harigaya

6

1 reference

21 August 2017

Jin Nishimiya

7

1 reference

21 August 2017

Akiko Matsunaga

8

1 reference

21 August 2017

Nobuaki Yoshikura

9

1 reference

21 August 2017

Kenji Ishihara

10

1 reference

21 August 2017

Musashi Arakawa

11

1 reference

21 August 2017

Aiko Isami

12

1 reference

21 August 2017

Kenichi Okazaki

13

1 reference

21 August 2017

Hideaki Yokoo

14

1 reference

21 August 2017

Kyoko Itoh

15

1 reference

21 August 2017

Makoto Yoneda

16

1 reference

21 August 2017

Mitsuru Kawamura

17

1 reference

21 August 2017

Takashi Inuzuka

18

1 reference

21 August 2017

Hitoshi Takahashi

19

1 reference

21 August 2017

Masatoyo Nishizawa

20

1 reference

21 August 2017

Takeshi Ikeuchi

23

1 reference

21 August 2017

language of work or name

English

0 references

publication date

13 December 2013

1 reference

21 August 2017

1 reference

21 August 2017

82

1 reference

21 August 2017

2

1 reference

21 August 2017

139-148

1 reference

CSF1R mutations link POLD and HDLS as a single disease entity

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

The CSF-1 receptor ligands IL-34 and CSF-1 exhibit distinct developmental brain expression patterns and regulate neural progenitor cell maintenance and maturation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Absence of colony stimulation factor-1 receptor results in loss of microglia, disrupted brain development and olfactory deficits

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Fate mapping analysis reveals that adult microglia derive from primitive macrophages

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

A method and server for predicting damaging missense mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Colony-stimulating factor-1 induces cytoskeletal reorganization and c-src-dependent tyrosine phosphorylation of selected cellular proteins in rodent osteoclasts

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

[Autopsy case of late-life nonmetachromatic leukodystrophy]

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

[A clinicopathological study of young-onset dementia: report of 2 autopsied cases].

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Antiserum against human glucose transporter 5 is highly specific for microglia among cells of the mononuclear phagocyte system

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Human GLUT5 immunolabeling is useful for evaluating microglial status in neuropathological study using paraffin sections

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies, and reproductive defects

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Reduced number and altered morphology of microglial cells in colony stimulating factor-1-deficient osteopetrotic op/op mice.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937843

Effects of macrophage-colony-stimulating factor deficiency on the maturation of microglia and brain macrophages and on their expression of scavenger receptor

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24336230

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary diffuse leucoencephalopathy with spheroids

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24336230

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000000046

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24336230

1 reference