Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
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Aggregation propensities of superoxide dismutase G93 hotspot mutants mirror ALS clinical phenotypesDisulfide scrambling in superoxide dismutase 1 reduces its cytotoxic effect in cultured cells and promotes protein aggregationSelective Expression of Osteopontin in ALS-resistant Motor Neurons is a Critical Determinant of Late Phase Neurodegeneration Mediated by Matrix Metalloproteinase-9.Immunochemical characterization on pathological oligomers of mutant Cu/Zn-superoxide dismutase in amyotrophic lateral sclerosis.Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.
P2860
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
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wetenschappelijk artikel
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наукова стаття, опублікована у вересні 2012
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name
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
@en
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
@nl
type
label
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
@en
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
@nl
prefLabel
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
@en
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
@nl
P2093
P2860
P1476
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
@en
P2093
Akinori Nakamura
Akiyo Hineno
Kunihiro Yoshida
Naoko Hanaoka-Tachibana
Shinji Ohara
Shu-Ichi Ikeda
Yo-Ichi Takei
Yoshiki Sekijima
P2860
P304
P356
10.3109/17482968.2011.656311
P577
2012-09-01T00:00:00Z