(Q40285663)

19 September 2017

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy (English)

1 reference

19 September 2017

1 reference

9

1 reference

19 September 2017

2

0 references

author name string

Natsuko Arai-Ichinoi

1

1 reference

19 September 2017

Ryo Sato

3

1 reference

19 September 2017

Tasuku Suzuki

4

1 reference

19 September 2017

Hiroki Kudo

5

1 reference

19 September 2017

Atsuo Kikuchi

6

1 reference

19 September 2017

Naomi Hino-Fukuyo

7

1 reference

19 September 2017

Mitsuyo Matsumoto

8

1 reference

19 September 2017

Kazuhiro Haginoya

10

1 reference

19 September 2017

Shigeo Kure

11

1 reference

19 September 2017

language of work or name

1 reference

23 November 2015

1 reference

19 September 2017

1 reference

19 September 2017

135

1 reference

19 September 2017

1

1 reference

19 September 2017

89-98

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-015-1617-7

19 September 2017

0 references

cites work

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

The neurogenetics of mucolipidosis type IV

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Mucolipidosis type IV: characteristic MRI findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Abnormal myelination in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Exome sequence read depth methods for identifying copy number changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Update on genetic disorders affecting white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Childhood leukodystrophies: a clinical perspective.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Alterations in white matter pathways in Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Hypomyelinating leukodystrophies: translational research progress and prospects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

MR spectroscopy in 18q(-) syndrome suggesting other than hypomyelination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

An evaluation of copy number variation detection tools from whole-exome sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Case definition and classification of leukodystrophies and leukoencephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Mucolipidosis type IV: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1617-7

Concepts of myelin and myelination in neuroradiology.

21 January 2018

1 reference

12 December 2020

White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): a dysmyelinating disorder?

1 reference

12 December 2020

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies

1 reference

12 December 2020

Cockayne syndrome with delayed recovery of RNA synthesis after ultraviolet irradiation but normal ultraviolet survival

1 reference

12 December 2020

10.1007/S00439-015-1617-7

Identifiers

DOI

1 reference

Dimensions Publication ID

19 September 2017

0 references

1 reference