(Q54479618)

30 May 2018

title

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

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30 May 2018

author

Atsushi Iwata

10

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30 May 2018

author name string

Jun Mitsui

1

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30 May 2018

Takashi Matsukawa

2

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30 May 2018

Hiroyuki Ishiura

3

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30 May 2018

Koichiro Higasa

4

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30 May 2018

Jun Yoshimura

5

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30 May 2018

Taro L Saito

6

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30 May 2018

Budrul Ahsan

7

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30 May 2018

Yuji Takahashi

8

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30 May 2018

Jun Goto

9

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30 May 2018

Yuki Niimi

11

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30 May 2018

Yuuichi Riku

12

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30 May 2018

Yoji Goto

13

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30 May 2018

Kazuo Mano

14

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30 May 2018

Mari Yoshida

15

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30 May 2018

Shinichi Morishita

16

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30 May 2018

Shoji Tsuji

17

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30 May 2018

publication date

4 October 2012

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30 May 2018

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

published in

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30 May 2018

volume

159B

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30 May 2018

issue

8

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30 May 2018

page(s)

951-957

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30 May 2018

A method and server for predicting damaging missense mutations

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Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

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Prediction of protein stability changes for single-site mutations using support vector machines

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Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C)

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Role of COL4A1 in small-vessel disease and hemorrhagic stroke

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Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

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

21 January 2018

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Leukodystrophies with late disease onset: an update

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Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.

21 January 2018

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Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

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Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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

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Lamin B1 duplications cause autosomal dominant leukodystrophy

21 January 2018

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Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

21 January 2018

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Molecular basis of different forms of metachromatic leukodystrophy

21 January 2018

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

21 January 2018

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C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

21 January 2018

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UTGB toolkit for personalized genome browsers

21 January 2018

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Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase

21 January 2018

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MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

21 January 2018

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Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32100

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32100

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32100

A stop-codon mutation in the BRI gene associated with familial British dementia

21 January 2018

1 reference

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

21 January 2018

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Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32100

1 reference

30 May 2018

1 reference

30 May 2018