Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) ; volume:271 ; number:9 ; day:20 ; month:7 ; year:2024 ; pages:6025-6037 ; date:9.2024
Journal of neurology ; 271, Heft 9 (20.7.2024), 6025-6037, 9.2024

Creator: Schmitz, Anne S.
Raju, Janani
Köhler, Wolfgang
Klebe, Stephan
Cheheb, Khaled
Reschke, Franziska
Biskup, Saskia
Haack, Tobias B.
Roeben, Benjamin
Kellner, Melanie
Rahner, Nils
Bloch, Thomas
Lemke, Johannes
Bender, Benjamin
Schöls, Ludger
Hengel, Holger
Hayer, Stefanie N.

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00415-024-12557-0

URN: urn:nbn:de:101:1-2411212227120.744793434207

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:28 AM CEST

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Associated

Schmitz, Anne S.
Raju, Janani
Köhler, Wolfgang
Klebe, Stephan
Cheheb, Khaled
Reschke, Franziska
Biskup, Saskia
Haack, Tobias B.
Roeben, Benjamin
Kellner, Melanie
Rahner, Nils
Bloch, Thomas
Lemke, Johannes
Bender, Benjamin
Schöls, Ludger
Hengel, Holger
Hayer, Stefanie N.
SpringerLink (Online service)

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Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

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Other Objects (12)

An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia

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 with persistent diffusion restriction dot lesions

Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report

Toxic leukoencephalopathy with axonal spheroids caused by chemotherapeutic drugs other than methotrexate

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids

Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy

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An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia

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Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

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

Loss of Ramified Microglia Precedes Axonal Spheroid Formation in Adult-Onset Leukoencephalopathy with Axonal Spheroids

Adult-onset leukoencephalopathy with persistent diffusion restriction dot lesions

Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report

Toxic leukoencephalopathy with axonal spheroids caused by chemotherapeutic drugs other than methotrexate

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

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Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy

A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus

An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia

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)

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

Loss of Ramified Microglia Precedes Axonal Spheroid Formation in Adult-Onset Leukoencephalopathy with Axonal Spheroids

Adult-onset leukoencephalopathy with persistent diffusion restriction dot lesions

Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report

Toxic leukoencephalopathy with axonal spheroids caused by chemotherapeutic drugs other than methotrexate

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids

Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy

A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus

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