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

Baylor College of Medicine
Department of Molecular and Human Genetics
University of Texas MD Anderson Cancer Center

Producción científica › revisión exhaustiva

5 Citas (Scopus)

Resumen

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

Idioma original	English
Número de artículo	e248
Publicación	Neurology: Genetics
Volumen	4
N.º	4
DOI	https://doi.org/10.1212/NXG.0000000000000248
Estado	Published - 1 ago 2018
Publicado de forma externa	Sí

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10.1212/NXG.0000000000000248

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@article{37f178964dfd40cf9b24f057b63d0b12,

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",

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

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

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