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M. Weber et al.
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Andrew Eisen et al.
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Electrodiagnostic criteria for diagnosis of ALS
Mamede de Carvalho et al.
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A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis
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Cysteine 111 affects aggregation and cytotoxicity of mutant Cu,Zn-superoxide dismutase associated with familial amyotrophic lateral sclerosis
Mauro Cozzolino et al.
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Disulfide bond mediates aggregation, toxicity, and ubiquitylation of familial amyotrophic lateral sclerosis-linked mutant SOD1
Jun-ichi Niwa et al.
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Metal-free superoxide dismutase forms soluble oligomers under physiological conditions: A possible general mechanism for familial ALS
Lucia Banci et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase 1 linked to amyotrophic lateral sclerosis
Shohei Watanabe et al.
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Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population:: Should all sporadic ALS cases also be screened for SOD1?
Josep Gamez et al.
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The G93C mutation in superoxide dismutase 1 -: Clinicopathologic phenotype and prognosis
L Régal et al.
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Early-onset ALS with long-term survival associated with spastin gene mutation
T Meyer et al.
NEUROLOGY (2005)
Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions
T Ohi et al.
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Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature
J Wang et al.
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