(Q87301823)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24532200%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies (English)

1 reference

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8 March 2020

author name string

Yurika Numata

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24532200%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Leo Gotoh

2

1 reference

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8 March 2020

Akiko Iwaki

3

1 reference

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8 March 2020

Kenji Kurosawa

4

1 reference

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8 March 2020

Jun-Ichi Takanashi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24532200%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Kimiko Deguchi

6

1 reference

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8 March 2020

Toshiyuki Yamamoto

7

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8 March 2020

Hitoshi Osaka

8

1 reference

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8 March 2020

Ken Inoue

9

1 reference

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8 March 2020

publication date

16 February 2014

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8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24532200%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

261

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8 March 2020

issue

4

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8 March 2020

page(s)

752-758

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18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

8 March 2020

cites work

1 reference

12 December 2020

Concepts of myelin and myelination in neuroradiology.

1 reference

12 December 2020

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

1 reference

12 December 2020

Invited article: an MRI-based approach to the diagnosis of white matter disorders

1 reference

12 December 2020

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

1 reference

12 December 2020

1 reference

12 December 2020

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

1 reference

12 December 2020

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

1 reference

12 December 2020

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

1 reference

12 December 2020

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

1 reference

12 December 2020

The burden of inherited leukodystrophies in children

1 reference

12 December 2020

Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum.

1 reference

12 December 2020

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

1 reference

12 December 2020

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

1 reference

12 December 2020

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

1 reference

12 December 2020

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

1 reference

12 December 2020

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

1 reference

12 December 2020

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

1 reference

12 December 2020

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

1 reference

12 December 2020

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

1 reference

12 December 2020

Leukodystrophy incidence in Germany.

1 reference

12 December 2020

The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders

1 reference

12 December 2020

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

1 reference

12 December 2020

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

1 reference

12 December 2020

10.1007/S00415-014-7263-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24532200%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference