Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene (Q34376041)

1 August 2017

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene (English)

1 reference

1 August 2017

1 reference

25

0 references

Ricardo Taipa

Ricardo Taipa

6

0 references

Jose Bras

Jose Bras

4

0 references

Jonathan D Rohrer

Jonathan D Rohrer

5

0 references

Jason D. Warren

Jason D Warren

11

0 references

Nick C. Fox

Nick C Fox

19

0 references

Martin Rossor

Martin N Rossor

22

0 references

Rita Guerreiro

1

Rita Guerreiro

1 reference

1 August 2017

23

John Hardy

1 reference

1 August 2017

12

Didier Hannequin

1 reference

1 August 2017

7

Tammaryn Lashley

1 reference

1 August 2017

21

Simon Mead

1 reference

1 August 2017

16

Véronique Golfier

1 reference

1 August 2017

15

Agnès Camuzat

1 reference

1 August 2017

Eleanna Kara

2

1 reference

1 August 2017

Isabelle Le Ber

3

1 reference

1 August 2017

Céline Dupuits

8

1 reference

1 August 2017

Nicole Gurunlian

9

1 reference

1 August 2017

Fanny Mochel

10

1 reference

1 August 2017

Frédéric Sedel

13

1 reference

1 August 2017

Christel Depienne

14

1 reference

1 August 2017

Foucaud Du Boisguéheneuc

17

1 reference

1 August 2017

Lucia Schottlaender

18

1 reference

1 August 2017

Jonathan Beck

20

1 reference

1 August 2017

Tamas Revesz

24

1 reference

1 August 2017

Henry Houlden

26

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 July 2013

1 reference

1 August 2017

1 reference

1 August 2017

70

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1 August 2017

7

1 reference

1 August 2017

875-882

1 reference

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

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

Leukodystrophies: classification, diagnosis, and treatment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

Predicting deleterious amino acid substitutions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

The role of kinase activity and the kinase insert region in ligand-induced internalization and degradation of the c-fms protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

Tyr721 regulates specific binding of the CSF-1 receptor kinase insert to PI 3′-kinase SH2 domains: a model for SH2-mediated receptor-target interactions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204151

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

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23649896

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/23649896

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMANEUROL.2013.698

1 reference

release_zdkgvyywl5ejbihhurvvzi3wvu

1 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zdkgvyywl5ejbihhurvvzi3wvu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

4204151

1 reference

1 August 2017

1 reference