(Q37320305)

19 August 2017

LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course (English)

1 reference

19 August 2017

Johannes Finnsson

1

1 reference

19 August 2017

Jimmy Sundblom

2

1 reference

19 August 2017

Niklas Dahl

3

1 reference

19 August 2017

Atle Melberg

4

1 reference

19 August 2017

Raili Raininko

5

1 reference

19 August 2017

language of work or name

1 reference

4 June 2015

1 reference

19 August 2017

1 reference

19 August 2017

78

1 reference

19 August 2017

3

1 reference

19 August 2017

412-425

1 reference

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

¹H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Can MR imaging diagnose adult-onset Alexander 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=5054845

Lamin B1 duplications cause autosomal dominant leukodystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Autosomal dominant palatal myoclonus and spinal cord atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

MRI of autosomal dominant pure spastic paraplegia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

MRI of the brain in neurologically healthy middle-aged and elderly individuals

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

A short test of mental status: description and preliminary results.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Adrenergic dysfunction in hereditary adult-onset leukodystrophy

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Adult-onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

The normal brain stem from infancy to old age. A morphometric MRI study

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24452

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054845

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

20 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24452

Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

21 January 2018

1 reference

12 December 2020

A patient with a rare leukodystrophy related to lamin B1 duplication

1 reference

12 December 2020

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

1 reference

12 December 2020

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31

1 reference

12 December 2020

The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.24452

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

26053668

1 reference