Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

Sarparanta, Jaakko; Jonson, Per Harald; Reimann, Jens; Vihola, Anna; Luque, Helena; Penttilä, Sini; Johari, Mridul; Savarese, Marco; Hackman, Peter; Kornblum, Cornelia; Udd, Bjarne

Sarparanta, Jaakko; Jonson, Per Harald; Reimann, Jens; Vihola, Anna; Luque, Helena; Penttilä, Sini; Johari, Mridul; Savarese, Marco; Hackman, Peter; Kornblum, Cornelia; Udd, Bjarne.

Afiliação

Sarparanta J; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.
Jonson PH; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.
Reimann J; Klinik und Poliklinik für Neurologie, Sektion Neuromuskuläre Erkrankungen, Universitätsklinikum Bonn, D-53127 Bonn, Germany.
Vihola A; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.
Luque H; Neuromuscular Research Center, Tampere University Hospital and Fimlab Laboratories, FI-33520 Tampere, Finland.
Penttilä S; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.
Johari M; Neuromuscular Research Center, Tampere University Hospital and Fimlab Laboratories, FI-33520 Tampere, Finland.
Savarese M; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.
Hackman P; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.
Kornblum C; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.
Udd B; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.

Hum Mol Genet ; 32(21): 3029-3039, 2023 10 17.

Article em En | MEDLINE | ID: mdl-37070754

Assuntos

Doenças Neuromusculares; Doenças do Sistema Nervoso Periférico; Humanos; Chaperonas Moleculares/genética; Mutação; Isoformas de Proteínas/genética; Proteínas Mutantes/genética; Proteínas de Choque Térmico HSP40/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Periférico / Doenças Neuromusculares Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Finlândia

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