An Autopsy Proven Case of CSF1R-mutant Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Premature Ovarian Failure.

Autopsy CSF1R Leukoencephalopathy Neuroglia Whole exome sequencing

Journal

Experimental neurobiology
ISSN: 1226-2560
Titre abrégé: Exp Neurobiol
Pays: Korea (South)
ID NLM: 101278187

Informations de publication

Date de publication:
Feb 2019
Historique:
received: 15 10 2018
revised: 09 01 2019
accepted: 14 01 2019
entrez: 12 3 2019
pubmed: 12 3 2019
medline: 12 3 2019
Statut: ppublish

Résumé

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder caused by mutations in the tyrosine kinase domain of the

Identifiants

pubmed: 30853829
doi: 10.5607/en.2019.28.1.119
pmc: PMC6401550
doi:

Types de publication

Case Reports

Langues

eng

Pagination

119-129

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Auteurs

Seong-Ik Kim (SI)

Department of Pathology, Seoul National University College of Medicine, Seoul 03080, Korea.

Beomseok Jeon (B)

Department of Neurology, Seoul National University College of Medicine, Seoul 03080, Korea.

Jeongmo Bae (J)

Department of Pathology, Seoul National University College of Medicine, Seoul 03080, Korea.

Jae Kyung Won (JK)

Department of Pathology, Seoul National University College of Medicine, Seoul 03080, Korea.

Han-Joon Kim (HJ)

Department of Neurology, Seoul National University College of Medicine, Seoul 03080, Korea.

Jeemin Yim (J)

Department of Pathology, Seoul National University College of Medicine, Seoul 03080, Korea.

Yun Joong Kim (YJ)

Department of Neurology, Hallym University Sacred Heart Hospital, Anyang 14068, Korea.

Sung-Hye Park (SH)

Department of Pathology, Seoul National University College of Medicine, Seoul 03080, Korea.
Institure of Neuroscience, Seoul National University College of Medicine, Seoul 03080, Korea.

Classifications MeSH