SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.

Berdynski, Mariusz; Miszta, Przemyslaw; Safranow, Krzysztof; Andersen, Peter M; Morita, Mitsuya; Filipek, Slawomir; Zekanowski, Cezary; Kuzma-Kozakiewicz, Magdalena

Berdynski, Mariusz; Miszta, Przemyslaw; Safranow, Krzysztof; Andersen, Peter M; Morita, Mitsuya; Filipek, Slawomir; Zekanowski, Cezary; Kuzma-Kozakiewicz, Magdalena.

Afiliação

Berdynski M; Laboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland. m.berdynski@imdik.pan.pl.
Miszta P; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden. m.berdynski@imdik.pan.pl.
Safranow K; Faculty of Chemistry, Biological and Chemical Research Centre, University of Warsaw, Warsaw, Poland.
Andersen PM; Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, 72 Powstanców Wlkp. Str., 70-111, Szczecin, Poland.
Morita M; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.
Filipek S; Division of Neurology, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Japan.
Zekanowski C; Faculty of Chemistry, Biological and Chemical Research Centre, University of Warsaw, Warsaw, Poland.
Kuzma-Kozakiewicz M; Laboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.

Sci Rep ; 12(1): 103, 2022 01 07.

Article em En | MEDLINE | ID: mdl-34996976

Assuntos

Esclerose Lateral Amiotrófica/genética; Mutação; Superóxido Dismutase-1/genética; Adulto; Idoso; Esclerose Lateral Amiotrófica/diagnóstico; Esclerose Lateral Amiotrófica/enzimologia; Esclerose Lateral Amiotrófica/mortalidade; Feminino; Estudos de Associação Genética; Predisposição Genética para Doença; Humanos; Masculino; Pessoa de Meia-Idade; Modelos Moleculares; Taxa de Mutação; Gravidade do Paciente; Fenótipo; Polônia; Prognóstico; Conformação Proteica; Dobramento de Proteína; Relação Estrutura-Atividade; Superóxido Dismutase-1/metabolismo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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