T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype

被引：4

作者：

Origone, Paola ^{[2
,3
]}

Caponnetto, Claudia ^{[4
,5
]}

Verdiani, Simonetta ^{[1
]}

Mantero, Vittorio ^{[6
]}

Cichero, Elena ^{[7
]}

Fossa, Paola ^{[7
]}

Bellone, Emilia ^{[1
,3
]}

Mancardi, Gianluigi ^{[4
,5
]}

Mandich, Paola ^{[1
,3
]}

机构：

[1] Univ Genoa, Dept Neurosci Ophthalmol & Genet, Med Genet Sect, I-16132 Genoa, Italy

[2] Univ Genoa, Dept Internal Med, I-16132 Genoa, Italy

[3] IRCCS AOU S Martino IST, UO Med Genet, Tokyo, Japan

[4] IRCCS UO Neurol AOU S Martino IST, Tokyo, Japan

[5] Univ Genoa, Dept Neurosci Ophthalmol & Genet, Neurol Sect, I-16132 Genoa, Italy

[6] Osped Niguarda Ca Granda, Milan, Italy

[7] Univ Genoa, Dept Pharmaceut Sci, I-16132 Genoa, Italy

来源：

AMYOTROPHIC LATERAL SCLEROSIS | 2012年 / 13卷 / 04期

关键词：

D O I：

10.3109/17482968.2012.684216

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：398 / 399

页数：2

共 2 条

[1] FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS [J].

Tsai, Ching-Paio ;

Soong, Bing-Wen ;

Lin, Kon-Ping ;

Tu, Pang-Hsien ;

Lin, Jer-Li ;

Lee, Yi-Chung .

NEUROBIOLOGY OF AGING, 2011, 32 (03) :553.e13-553.e21

[2] 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

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