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QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
Guarani, Virginia; Jardel, Claude; Chrétien, Dominique; Lombès, Anne; Bénit, Paule; Labasse, Clémence; Lacène, Emmanuelle; Bourillon, Agnès; Imbard, Apolline; Benoist, Jean-François; Dorboz, Imen; Gilleron, Mylène; Goetzman, Eric S; Gaignard, Pauline; Slama, Abdelhamid; Elmaleh-Bergès, Monique; Romero, Norma B; Rustin, Pierre; Ogier de Baulny, Hélène; Paulo, Joao A; Harper, J Wade; Schiff, Manuel.
Afiliação
  • Guarani V; Department of Cell Biology, Harvard Medical School, Boston, United States.
  • Jardel C; Inserm U1016, Institut Cochin, CNRS UMR 8104, Paris, France.
  • Chrétien D; Department of Biochemistry, APHP, GHU Pitié-Salpêtrière, Paris, France.
  • Lombès A; Université Paris-Descartes, Paris, France.
  • Bénit P; UMR1141, PROTECT, INSERM, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
  • Labasse C; Inserm U1016, Institut Cochin, CNRS UMR 8104, Paris, France.
  • Lacène E; Department of Biochemistry, APHP, GHU Pitié-Salpêtrière, Paris, France.
  • Bourillon A; Université Paris-Descartes, Paris, France.
  • Imbard A; UMR1141, PROTECT, INSERM, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
  • Benoist JF; Neuromuscular morphology unit, Institut de Myologie, GHU Pitié-Salpêtrière, APHP, Paris, France.
  • Dorboz I; Neuromuscular morphology unit, Institut de Myologie, GHU Pitié-Salpêtrière, APHP, Paris, France.
  • Gilleron M; Department of Biochemistry, Hôpital Robert Debré, APHP, Paris, France.
  • Goetzman ES; Department of Biochemistry, Hôpital Robert Debré, APHP, Paris, France.
  • Gaignard P; Department of Biochemistry, Hôpital Robert Debré, APHP, Paris, France.
  • Slama A; UMR1141, PROTECT, INSERM, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
  • Elmaleh-Bergès M; Inserm U1016, Institut Cochin, CNRS UMR 8104, Paris, France.
  • Romero NB; Department of Biochemistry, APHP, GHU Pitié-Salpêtrière, Paris, France.
  • Rustin P; Université Paris-Descartes, Paris, France.
  • Ogier de Baulny H; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, United States.
  • Paulo JA; University of Pittsburgh, Pittsburgh, United States.
  • Harper JW; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, United States.
  • Schiff M; Department of Biochemistry, Hôpital Bicêtre, APHP, Paris, France.
Elife ; 52016 09 13.
Article em En | MEDLINE | ID: mdl-27623147
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalomiopatias Mitocondriais / Proteínas Mitocondriais / Hepatopatias / Proteínas de Membrana / Mutação Tipo de estudo: Etiology_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: Elife Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalomiopatias Mitocondriais / Proteínas Mitocondriais / Hepatopatias / Proteínas de Membrana / Mutação Tipo de estudo: Etiology_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: Elife Ano de publicação: 2016 Tipo de documento: Article