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A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia.
Çakar, Arman; Pekbilir, Emre; Ceylaner, Serdar; Durmus, Hacer; Battaloglu, Esra; Sahin, Umut; Parman, Yesim.
Afiliação
  • Çakar A; Neurology Department, Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Pekbilir E; Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, Istanbul, Turkey, and.
  • Ceylaner S; Medical Genetics, Intergen Genetics Laboratory, Ankara, Turkey.
  • Durmus H; Neurology Department, Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Battaloglu E; Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, Istanbul, Turkey, and.
  • Sahin U; Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, Istanbul, Turkey, and.
  • Parman Y; Neurology Department, Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Amyotroph Lateral Scler Frontotemporal Degener ; 24(5-6): 535-538, 2023 08.
Article em En | MEDLINE | ID: mdl-36935613
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esclerose Lateral Amiotrófica Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esclerose Lateral Amiotrófica Idioma: En Ano de publicação: 2023 Tipo de documento: Article