Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene-Reference-Cited by-同舟云学术

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Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene

Published:2014-10 Issue:10 Volume:35 Page:2420.e7-2420.e12
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Nakamura Akinori,Kuru Satoshi,Hineno Akiyo,Kobayashi Chinatsu,Kinoshita Tomomi,Miyazaki Daigo,Ikeda Shu-ichi

Funder

Ministry of Education, Culture, Sports, Science, and Technology

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Neurology (clinical),Aging,General Neuroscience

Reference36 articles.

1. ALSoD: a user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics;Abel;Hum. Mutat.,2012

2. A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis;Aksoy;Neuroepidemiology,2003

3. ALS Online Genetic Database, ALSOD: http://www.alsod.iop.kcl.ac.uk/.

4. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia;Andersen;Brain,1997

5. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?;Andersen;Nat. Rev. Neurol.,2011

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1. Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?;Neural Regeneration Research;2024-04-03

2. GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome;Journal of Neurology;2022-04-02

3. A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2018-04-02

4. Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings;Journal of Neurology;2017-02-07

5. Rapid Progression of Sporadic ALS in a Patient Carrying SOD1 p.Gly13Arg Mutation;Experimental Neurobiology;2016-12-31

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