CSF1Rmutations identified in three families with autosomal dominantly inherited leukoencephalopathy-Reference-Cited by-同舟云学术

CSF1Rmutations identified in three families with autosomal dominantly inherited leukoencephalopathy

Published:2012-10-04 Issue:8 Volume:159B Page:951-957
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mitsui Jun,Matsukawa Takashi,Ishiura Hiroyuki,Higasa Koichiro,Yoshimura Jun,Saito Taro L.,Ahsan Budrul,Takahashi Yuji,Goto Jun,Iwata Atsushi,Niimi Yuki,Riku Yuuichi,Goto Yoji,Mano Kazuo,Yoshida Mari,Morishita Shinichi,Tsuji Shoji

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Reference33 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Hereditary diffuse leucoencephalopathy with spheroids;Axelsson;Acta Psychiatr Scand Suppl,1984

3. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease;Brenner;Nat Genet,2001

4. Prediction of protein stability changes for single-site mutations using support vector machines;Cheng;Proteins,2006

5. Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C);Ghiso;Proc Natl Acad Sci USA,1986

Cited by 37 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS);BioImpacts;2022-11-26

2. The Primary Microglial Leukodystrophies: A Review;International Journal of Molecular Sciences;2022-06-06

3. Four Swedish cases of CSF1R‐related leukoencephalopathy: Visualization of clinical phenotypes;Acta Neurologica Scandinavica;2022-02-04

4. Modeling CSF‐1 receptor deficiency diseases – how close are we?;The FEBS Journal;2021-07-05

5. Pathologic basis of the preferential thinning of thecorpus callosum in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP);eNeurologicalSci;2021-03