Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity (Q35745338)

10 August 2017

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

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10 August 2017

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10

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10 August 2017

12

Zbigniew K Wszolek

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10 August 2017

9

Rosa Rademakers

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10 August 2017

Christina Sundal

1

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10 August 2017

Jennifer Lash

2

1 reference

10 August 2017

Jan Aasly

3

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10 August 2017

Sarka Øygarden

4

1 reference

10 August 2017

Sigrun Roeber

5

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10 August 2017

Hans Kretzschman

6

1 reference

10 August 2017

James Y Garbern

7

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10 August 2017

Alex Tselis

8

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10 August 2017

Daniel Broderick

11

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10 August 2017

language of work or name

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1 November 2011

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Journal of the Neurological Sciences

10 August 2017

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10 August 2017

314

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10 August 2017

1-2

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10 August 2017

130-137

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Multiple sclerosis as a neurodegenerative disease: pathology, mechanisms and therapeutic implications.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Leukoencephalopathy with vanishing white matter: a review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Metachromatic leukodystrophy--an update

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Niemann-Pick disease type C

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Metachromatic leukodystrophy: a scoring system for brain MR imaging 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=3275663

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=3275663

Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal 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=3275663

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Congruence between NOTCH3 mutations and GOM in 131 CADASIL 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=3275663

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=3275663

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

MRI for the differential diagnosis of neurodegenerative parkinsonism in clinical practice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

MRI findings in Susac's syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Current concepts: diffuse axonal injury-associated traumatic brain injury

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Pathogenesis of tissue injury in MS lesions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Adult-onset leukodystrophy 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=3275663

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

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=3275663

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3275663

25 September 2018

1 reference

12 December 2020

Hereditary diffuse leucoencephalopathy with spheroids

1 reference

12 December 2020

Autosomal dominant subcortical gliosis presenting as frontotemporal dementia

1 reference

12 December 2020

Two cases of LENAS: diagnosis by MRI and biopsy

1 reference

12 December 2020

Late onset hexosaminidase A deficiency in a young adult

1 reference

12 December 2020

10.1016/J.JNS.2011.10.006

Identifiers

DOI

1 reference

10 August 2017

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10 August 2017

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