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Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Pennisi, Alessandra; Rötig, Agnès; Roux, Charles-Joris; Lévy, Raphaël; Henneke, Marco; Gärtner, Jutta; Teke Kisa, Pelin; Sarioglu, Fatma Ceren; Yis, Uluç; Konczal, Laura L; Burkardt, Deepika D; Wu, Sulin; Gaignard, Pauline; Besmond, Claude; Hubert, Laurence; Rio, Marlène; Barcia, Giulia; Munnich, Arnold; Boddaert, Nathalie; Schiff, Manuel.
Afiliação
  • Pennisi A; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France.
  • Rötig A; Inserm UMR_S1163, Institut Imagine, Paris, France.
  • Roux CJ; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France.
  • Lévy R; Inserm UMR_S1163, Institut Imagine, Paris, France.
  • Henneke M; Necker Hospital, APHP, Pediatric Radiology Department, University of Paris, Paris, France.
  • Gärtner J; Necker Hospital, APHP, Pediatric Radiology Department, University of Paris, Paris, France.
  • Teke Kisa P; Department of Paediatrics and Adolescent Medicine, Germany, University Medical Centre Göttingen, Georg August University Göttingen, Göttingen, Germany.
  • Sarioglu FC; Department of Paediatrics and Adolescent Medicine, Germany, University Medical Centre Göttingen, Georg August University Göttingen, Göttingen, Germany.
  • Yis U; Pediatric Metabolism and Nutrition, Dokuz Eylül University, Izmir, Turkey.
  • Konczal LL; Pediatric Radiology, Dokuz Eylül University, Izmir, Turkey.
  • Burkardt DD; Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey.
  • Wu S; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
  • Gaignard P; Department of Genetics, Case Western Reserve University, Cleveland, OH, USA.
  • Besmond C; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
  • Hubert L; Department of Genetics, Case Western Reserve University, Cleveland, OH, USA.
  • Rio M; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Barcia G; Department of Genetics, Case Western Reserve University, Cleveland, OH, USA.
  • Munnich A; Department of Internal Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
  • Boddaert N; Bicêtre Hospital, APHP, Department of Biochemistry, Bicêtre, France.
  • Schiff M; Inserm UMR_S1163, Institut Imagine, Paris, France.
J Med Genet ; 59(2): 204-208, 2022 02.
Article em En | MEDLINE | ID: mdl-33199448
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Doença de Leigh / Doenças Mitocondriais / Proteínas Mitocondriais / Exorribonucleases Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Doença de Leigh / Doenças Mitocondriais / Proteínas Mitocondriais / Exorribonucleases Idioma: En Ano de publicação: 2022 Tipo de documento: Article