Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS-Reference-Cited by-同舟云学术

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Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

Published:2012-05 Issue:5 Volume:33 Page:1017.e17-1017.e23
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Kwon Min-Jung,Baek Wonki,Ki Chang-Seok,Kim Hyun Young,Koh Seong-Ho,Kim Jong-Won,Kim Seung Hyun

Funder

Korean Health Technology R&D Project, Ministry for Health, Welfare and Family Affairs

National Research Foundation of Korea

IN-SUNG Foundation for Medical Research

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Clinical Neurology,Ageing,General Neuroscience

Reference47 articles.

1. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations;Abe;J. Neurol. Sci.,1996

2. Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium;Aguirre;Eur. J. Hum. Genet.,1999

3. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene;Andersen;Curr. Neurol. Neurosci. Rep.,2006

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

5. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes;Andersen;Amyotroph. Lateral Scler. Other Mot. Neuron Disord.,2003

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1. An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data;Scientific Reports;2023-11-01

2. Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study;Frontiers in Neurology;2023-05-17

3. Structural polymorphism of the low-complexity C-terminal domain of TDP-43 amyloid aggregates revealed by solid-state NMR;Frontiers in Molecular Biosciences;2023-03-29

4. Genetic and clinical characteristics of ALS patients with NEK1 gene variants;Neurobiology of Aging;2023-03

5. Emerging Roles for Phase Separation of RNA-Binding Proteins in Cellular Pathology of ALS;Frontiers in Cell and Developmental Biology;2022-02-17

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