A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids
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Title
A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids
Authors
Keywords
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Journal
Frontiers in Genetics
Volume 10, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2019-05-22
DOI
10.3389/fgene.2019.00491
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Note: Only part of the references are listed.- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD)
- (2018) Scott J. Adams et al. JOURNAL OF CLINICAL NEUROSCIENCE
- Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- (2018) Takeshi Miura et al. JOURNAL OF NEUROLOGY
- Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated withCSF1Rmutation
- (2016) T. Konno et al. EUROPEAN JOURNAL OF NEUROLOGY
- A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene
- (2016) Ito Kawakami et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics
- (2016) Carmen Stabile et al. NEUROLOGICAL SCIENCES
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses
- (2015) Heleen M. van der Klift et al. Molecular Genetics & Genomic Medicine
- Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS
- (2013) T. Konno et al. NEUROLOGY
- CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function
- (2013) Clare Pridans et al. Scientific Reports
- Genetic Analysis of Inherited Leukodystrophies
- (2013) Rita Guerreiro et al. JAMA Neurology
- Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Can Present as Frontotemporal Dementia Syndrome
- (2011) Janice C. Wong et al. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
- Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity
- (2011) Christina Sundal et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
- (2011) Rosa Rademakers et al. NATURE GENETICS
- The pathobiology of splicing
- (2009) Amanda J Ward et al. JOURNAL OF PATHOLOGY
- Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): A single entity?
- (2009) C. Wider et al. NEUROLOGY
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