Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics (Q38875068)

7 September 2017

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title

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics (English)

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7 September 2017

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4

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9 June 2020

author name string

Carmen Stabile

1

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9 June 2020

Ilaria Taglia

2

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9 June 2020

Carla Battisti

3

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9 June 2020

Antonio Federico

5

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9 June 2020

publication date

23 June 2016

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7 September 2017

published in

Neurological Sciences

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9 June 2020

volume

37

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9 June 2020

issue

9

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9 June 2020

page(s)

1565-1569

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Hereditary diffuse leucoencephalopathy with spheroids

9 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Hereditary diffuse leukoencephalopathy with spheroids - a volumetric and radiological comparison with multiple sclerosis patients and healthy controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: an MRI-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Tyrosine kinase oncogenes in normal hematopoiesis and hematological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment].

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

[Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids].

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-016-2634-6

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of spheroids in hereditary diffuse leukoencephalopathy with axonal spheroids

1 reference

12 December 2020

Hereditary diffuse leucoencephalopathy with spheroids

1 reference

12 December 2020

10.1007/S10072-016-2634-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27338940%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference