Authors' response to: "Alexander disease genetics: Beyond GFAP exon sequencing?"

被引：0

作者：

Alexander, Abigail L. ^{[1
,3
]}

Lim, Swee Yang ^{[2
]}

Massingham, Lauren J. ^{[2
]}

Phillips, Oliver ^{[2
]}

Chambers, Mary-Kathryn ^{[2
]}

Donahue, John E. ^{[2
]}

机构：

[1] Brown Univ, Warren Alpert Med Sch, Providence, RI USA

[2] Rhode Isl Hosp, Providence, RI USA

[3] Brown Univ, Pathol & Lab Med, 593 Eddy St, Providence, RI 02903 USA

来源：

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY | 2023年 / 83卷 / 01期

关键词：

MUTATIONS;

D O I：

10.1093/jnen/nlad101

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：67 / 68

页数：2

共 6 条

[1] Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review [J].

Alexander, Abigail L. ;

Lim, Swee Yang ;

Massingham, Lauren J. ;

Phillips, Oliver ;

Chambers, Mary-Kathryn ;

Donahue, John E. .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2022, 81 (12) :1033-1036

[2] Splice site, frameshift, and chimeric GFAP mutations in Alexander disease [J].

Flint, Daniel ;

Li, Rong ;

Webster, Lital S. ;

Naidu, Sakkubai ;

Kolodny, Edwin ;

Percy, Alan ;

van der Knaap, Marjo ;

Powers, James M. ;

Mantovani, John F. ;

Ekstein, Josef ;

Goldman, James E. ;

Messing, Albee ;

Brenner, Michael .

HUMAN MUTATION, 2012, 33 (07) :1141-1148

[3] Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene [J].

Goerttler, Tsepo ;

Zanetti, Letizia ;

Regoni, Maria ;

Egger, Karl ;

Kellner, Elias ;

Deuschl, Cornelius ;

Kleinschnitz, Christoph ;

Sassone, Jenny ;

Klebe, Stephan .

NEUROLOGY-GENETICS, 2022, 8 (03)

[4] Propensity for paternal inheritance of de novo mutations in Alexander disease [J].

Li, R ;

Johnson, AB ;

Salomons, GS ;

van der Knaap, MS ;

Rodriguez, D ;

Boespflug-Tanguy, O ;

Gorospe, JR ;

Goldman, JE ;

Messing, A ;

Brenner, M .

HUMAN GENETICS, 2006, 119 (1-2) :137-144

[5] HeLa cells 50 years on: the good, the bad and the ugly [J].

Masters, JR .

NATURE REVIEWS CANCER, 2002, 2 (04) :315-319

[6] Alexander Disease [J].

Messing, Albee ;

Brenner, Michael ;

Feany, Mel B. ;

Nedergaard, Maiken ;

Goldman, James E. .

JOURNAL OF NEUROSCIENCE, 2012, 32 (15) :5017-5023

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