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Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant.
Della Marina, Adela; Hentschel, Andreas; Stenzel, Martin; Schara-Schmidt, Ulrike; Osmanovic, Alma; Ruck, Tobias; Grüneboom, Anika; Röbisch, Luisa; Beygo, Jasmin; Kölbel, Heike; Gangfuss, Andrea; Kaiser, Frank J; Schänzer, Anne; Kale, Dipali; Roos, Andreas.
Afiliación
  • Della Marina A; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen, Germany.
  • Hentschel A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany.
  • Stenzel M; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany.
  • Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen, Germany.
  • Osmanovic A; Essen Centre for Rare Diseases (EZSE), University Hospital Essen, Duisburg-Essen University, Essen, Germany.
  • Ruck T; Department of Neurology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Grüneboom A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany.
  • Röbisch L; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany.
  • Beygo J; Institute of Human Genetics, University Duisburg-Essen, University Hospital Essen, Duisburg-Essen University, Essen, Germany.
  • Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen, Germany.
  • Gangfuss A; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen, Germany.
  • Kaiser FJ; Essen Centre for Rare Diseases (EZSE), University Hospital Essen, Duisburg-Essen University, Essen, Germany.
  • Schänzer A; Institute of Human Genetics, University Duisburg-Essen, University Hospital Essen, Duisburg-Essen University, Essen, Germany.
  • Kale D; Institute of Neuropathology & Translational Neuroscience Network Giessen (TNNG), Justus Liebig University Giessen, Giessen, Germany.
  • Roos A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany.
J Neuropathol Exp Neurol ; 2024 Jul 29.
Article en En | MEDLINE | ID: mdl-39074165
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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: J Neuropathol Exp Neurol Año: 2024 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: J Neuropathol Exp Neurol Año: 2024 Tipo del documento: Article País de afiliación: Alemania