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SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Bulthuis, Elianne P; Adjobo-Hermans, Merel J W; de Potter, Bastiaan; Hoogstraten, Saskia; Wezendonk, Lisanne H T; Tutakhel, Omar A Z; Wintjes, Liesbeth T; van den Heuvel, Bert; Willems, Peter H G M; Kamsteeg, Erik-Jan; Gozalbo, M Estela Rubio; Sallevelt, Suzanne C E H; Koudijs, Suzanne M; Nicolai, Joost; de Bie, Charlotte I; Hoogendijk, Jessica E; Koopman, Werner J H; Rodenburg, Richard J.
Afiliação
  • Bulthuis EP; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Adjobo-Hermans MJW; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • de Potter B; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Hoogstraten S; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Human and Animal Physiology, Wageningen University & Research, 6700 AH Wageningen, the Netherlands.
  • Wezendonk LHT; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Tutakhel OAZ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Wintjes LT; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • van den Heuvel B; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Willems PHGM; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Gozalbo MER; Department of Pediatrics, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands.
  • Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands.
  • Koudijs SM; Department of Neurology, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands.
  • Nicolai J; Department of Neurology, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands.
  • de Bie CI; Department of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, the Netherlands.
  • Hoogendijk JE; Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3584 CG Utrecht, the Netherlands.
  • Koopman WJH; Human and Animal Physiology, Wageningen University & Research, 6700 AH Wageningen, the Netherlands; Department of Pediatrics, Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen,
  • Rodenburg RJ; Department of Pediatrics, Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: Richard.Rodenburg@radboudumc.nl.
Biochim Biophys Acta Mol Basis Dis ; 1869(8): 166808, 2023 12.
Article em En | MEDLINE | ID: mdl-37454773
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cálcio / Cálcio Limite: Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cálcio / Cálcio Limite: Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda