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
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1432-1459
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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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 ; volume:265 ; number:10 ; day:22 ; month:8 ; year:2018 ; pages:2415-2424 ; date:10.2018
Journal of neurology ; 265, Heft 10 (22.8.2018), 2415-2424, 10.2018
- Creator
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Miura, Takeshi
- Contributor
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Mezaki, Naomi
Konno, Takuya
Iwasaki, Akio
Hara, Naoyuki
Miura, Masatomo
Funayama, Michitaka
Unai, Yuki
Tashiro, Yuichi
Okita, Kenji
Kihara, Takeshi
Ito, Nobuo
Kanatsuka, Yoichi
Jones, David T.
Hara, Norikazu
Ishiguro, Takanobu
Tokutake, Takayoshi
Kasuga, Kensaku
Nozaki, Hiroaki
Dickson, Dennis W.
Onodera, Osamu
Wszolek, Zbigniew K.
Ikeuchi, Takeshi
SpringerLink (Online service)
- DOI
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10.1007/s00415-018-9017-2
- URN
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urn:nbn:de:101:1-2018111020524443225255
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:55 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Miura, Takeshi
- Mezaki, Naomi
- Konno, Takuya
- Iwasaki, Akio
- Hara, Naoyuki
- Miura, Masatomo
- Funayama, Michitaka
- Unai, Yuki
- Tashiro, Yuichi
- Okita, Kenji
- Kihara, Takeshi
- Ito, Nobuo
- Kanatsuka, Yoichi
- Jones, David T.
- Hara, Norikazu
- Ishiguro, Takanobu
- Tokutake, Takayoshi
- Kasuga, Kensaku
- Nozaki, Hiroaki
- Dickson, Dennis W.
- Onodera, Osamu
- Wszolek, Zbigniew K.
- Ikeuchi, Takeshi
- SpringerLink (Online service)
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Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
CRISPR/Cas-based gene therapy in Adult-Onset Leukoencephalopathy with axonal spheroids and pigmented glia : designing the optimal guide RNA
Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
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Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report
Loss of Ramified Microglia Precedes Axonal Spheroid Formation in Adult-Onset Leukoencephalopathy with Axonal Spheroids
Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy
Pigmented natal teeth
Disseminated necrotizing leukoencephalopathy
Reversible posterior leukoencephalopathy syndrome
Pathology of pigmented skin lesions
An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
CRISPR/Cas-based gene therapy in Adult-Onset Leukoencephalopathy with axonal spheroids and pigmented glia : designing the optimal guide RNA
Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
Adult-onset leukoencephalopathy with persistent diffusion restriction dot lesions
Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report
Loss of Ramified Microglia Precedes Axonal Spheroid Formation in Adult-Onset Leukoencephalopathy with Axonal Spheroids
Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy
Pigmented natal teeth
Disseminated necrotizing leukoencephalopathy
Reversible posterior leukoencephalopathy syndrome