Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Undiagnosed Diseases Network

doi:10.1212/NXG.0000000000000248

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Undiagnosed Diseases Network

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).

Original language	English (US)
Article number	e248
Journal	Neurology: Genetics
Volume	4
Issue number	4
DOIs	https://doi.org/10.1212/NXG.0000000000000248
State	Published - Aug 1 2018
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology
Genetics(clinical)

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10.1212/NXG.0000000000000248

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@article{14bfa2cda40d418da0245b410905bf10,

title = "Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma",

abstract = " Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).",

author = "\{Undiagnosed Diseases Network\} and Keren MacHol and Joseph Jankovic and Dhanya Vijayakumar and Burrage, \{Lindsay C.\} and Mahim Jain and Lewis, \{Richard A.\} and Fuller, \{Gregory N.\} and Mingchu Xu and Marta Penas-Prado and Gule-Monroe, \{Maria K.\} and Rosenfeld, \{Jill A.\} and Rui Chen and Eng, \{Christine M.\} and Yaping Yang and Lee, \{Brendan H.\} and Moretti, \{Paolo M.\} and Dhar, \{Shweta U.\}",

note = "Publisher Copyright: {\textcopyright} 2018 American Academy of Neurology.",

year = "2018",

month = aug,

day = "1",

doi = "10.1212/NXG.0000000000000248",

language = "English (US)",

volume = "4",

journal = "Neurology: Genetics",

issn = "2376-7839",

publisher = "Lippincott Williams and Wilkins",

number = "4",

}

TY - JOUR

T1 - Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

AU - Undiagnosed Diseases Network

AU - MacHol, Keren

AU - Jankovic, Joseph

AU - Vijayakumar, Dhanya

AU - Burrage, Lindsay C.

AU - Jain, Mahim

AU - Lewis, Richard A.

AU - Fuller, Gregory N.

AU - Xu, Mingchu

AU - Penas-Prado, Marta

AU - Gule-Monroe, Maria K.

AU - Rosenfeld, Jill A.

AU - Chen, Rui

AU - Eng, Christine M.

AU - Yang, Yaping

AU - Lee, Brendan H.

AU - Moretti, Paolo M.

AU - Dhar, Shweta U.

PY - 2018/8/1

Y1 - 2018/8/1

N2 - Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).

AB - Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).

UR - https://www.scopus.com/pages/publications/85060816372

UR - https://www.scopus.com/pages/publications/85060816372#tab=citedBy

U2 - 10.1212/NXG.0000000000000248

DO - 10.1212/NXG.0000000000000248

M3 - Article

AN - SCOPUS:85060816372

SN - 2376-7839

VL - 4

JO - Neurology: Genetics

JF - Neurology: Genetics

IS - 4

M1 - e248

ER -

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Abstract

ASJC Scopus subject areas

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