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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Shieh, Joseph T; Tintos-Hernandez, Jesus A; Murali, Chaya N; Penon-Portmann, Monica; Flores-Mendez, Marco; Santana, Adrian; Bulos, Joshua A; Du, Kang; Dupuis, Lucie; Damseh, Nadirah; Mendoza-Londoño, Roberto; Berera, Camilla; Lee, Julieann C; Phillips, Joanna J; Alves, César A P F; Dmochowski, Ivan J; Ortiz-González, Xilma R.
Afiliação
  • Shieh JT; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA. Electronic address: joseph.shieh2@ucsf.edu.
  • Tintos-Hernandez JA; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Penon-Portmann M; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA.
  • Flores-Mendez M; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Santana A; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Bulos JA; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Du K; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Damseh N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Mendoza-Londoño R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Berera C; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA.
  • Lee JC; Division of Neuropathology, Department of Pathology, University of California San Francisco, San Francisco, CA 94143, USA.
  • Phillips JJ; Division of Neuropathology, Department of Pathology, University of California San Francisco, San Francisco, CA 94143, USA; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA 94143, USA.
  • Alves CAPF; Division of Neuroradiology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Dmochowski IJ; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Ortiz-González XR; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Epilepsy Neurogenetics Initiative (ENGIN), The Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine, University of
HGG Adv ; 4(4): 100236, 2023 Oct 12.
Article em En | MEDLINE | ID: mdl-37660254
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Apoferritinas / Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: HGG Adv Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Apoferritinas / Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: HGG Adv Ano de publicação: 2023 Tipo de documento: Article