Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28

被引：36

作者：

Zhang, Ming ^{[1
]}

Xi, Zhengrui ^{[1
]}

Ghani, Mahdi ^{[1
]}

Jia, Peixin ^{[2
]}

Pal, Mrinal ^{[2
]}

Werynska, Karolina ^{[1
]}

Moreno, Danielle ^{[1
]}

Sato, Christine ^{[1
]}

Liang, Yan ^{[1
]}

Robertson, Janice ^{[1
]}

Petronis, Arturas ^{[2
]}

Zinman, Lorne ^{[3
,4
]}

Rogaeva, Ekaterina ^{[1
,4
]}

机构：

[1] Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[2] Ctr Addict & Mental Hlth, Toronto, ON, Canada

[3] Sunnybrook Hlth Sci Ctr, Toronto, ON, Canada

[4] Univ Toronto, Div Neurol, Dept Med, Toronto, ON, Canada

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2016年 / 87卷 / 11期

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS;

D O I：

10.1136/jnnp-2016-313592

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：1268 / U151

页数：3

共 6 条

[1] Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis [J].

Droppelmann, Cristian A. ;

Wang, Jian ;

Campos-Melo, Danae ;

Keller, Brian ;

Volkening, Kathryn ;

Hegele, Robert A. ;

Strong, Michael J. .

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2013, 14 (5-6) :444-451

[2] DNA methylation age of human tissues and cell types [J].

Horvath, Steve .

GENOME BIOLOGY, 2013, 14 (10)

[3] ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort [J].

Ma, Yan ;

Tang, Lu ;

Chen, Lu ;

Zhang, Bin ;

Deng, Pan ;

Wang, Jingran ;

Yang, Yi ;

Liu, Rong ;

Yang, Yan ;

Ye, Shan ;

Liu, Xiaolu ;

Zhang, Huagang ;

Fan, Dongsheng .

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2014, 15 (3-4) :309-311

[4] T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype [J].

Origone, Paola ;

Caponnetto, Claudia ;

Verdiani, Simonetta ;

Mantero, Vittorio ;

Cichero, Elena ;

Fossa, Paola ;

Bellone, Emilia ;

Mancardi, Gianluigi ;

Mandich, Paola .

AMYOTROPHIC LATERAL SCLEROSIS, 2012, 13 (04) :398-399

[5] A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis [J].

Visani, Michela ;

de Biase, Dario ;

Bartolomei, Ilaria ;

Plasmati, Rosaria ;

Morandi, Luca ;

Cenacchi, Giovanna ;

Salvi, Fabrizio ;

Pession, Annalisa .

AMYOTROPHIC LATERAL SCLEROSIS, 2011, 12 (05) :385-388

[6] IDENTICAL TWINS WITH THE C9ORF72 REPEAT EXPANSION ARE DISCORDANT FOR ALS [J].

Xi, Zhengrui ;

Yunusova, Yana ;

van Blitterswijk, Marka ;

Dib, Samar ;

Ghani, Mahdi ;

Moreno, Danielle ;

Sato, Christine ;

Liang, Yan ;

Singleton, Andrew ;

Robertson, Janice ;

Rademakers, Rosa ;

Zinman, Lorne ;

Rogaeva, Ekaterina .

NEUROLOGY, 2014, 83 (16) :1476-1478

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