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ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
Hirose, Takuo; Cabrera-Socorro, Alfredo; Chitayat, David; Lemonnier, Thomas; Féraud, Olivier; Cifuentes-Diaz, Carmen; Gervasi, Nicolas; Mombereau, Cedric; Ghosh, Tanay; Stoica, Loredana; Bacha, Jeanne d'Arc Al; Yamada, Hiroshi; Lauterbach, Marcel A; Guillon, Marc; Kaneko, Kiriko; Norris, Joy W; Siriwardena, Komudi; Blasér, Susan; Teillon, Jérémie; Mendoza-Londono, Roberto; Russeau, Marion; Hadoux, Julien; Ito, Sadayoshi; Corvol, Pierre; Matheus, Maria G; Holden, Kenton R; Takei, Kohji; Emiliani, Valentina; Bennaceur-Griscelli, Annelise; Schwartz, Charles E; Nguyen, Genevieve; Groszer, Matthias.
Afiliação
  • Hirose T; Collège de France, Center for Interdisciplinary Research in Biology, Paris, France.
  • Cabrera-Socorro A; INSERM, UMR-S 1270, Paris, France.
  • Chitayat D; Sorbonne Université, Paris, France.
  • Lemonnier T; Institut du Fer à Moulin, Paris, France.
  • Féraud O; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Cifuentes-Diaz C; Division of Clinical and Metabolic Genetics and.
  • Gervasi N; Department of Diagnostic Imaging, Division of Pediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Mombereau C; INSERM, UMR-S 1270, Paris, France.
  • Ghosh T; Sorbonne Université, Paris, France.
  • Stoica L; Institut du Fer à Moulin, Paris, France.
  • Bacha JDA; INSERM, UMR 935, ESTeam Paris Sud, SFR André Lwoff, Université Paris Sud, Villejuif, France.
  • Yamada H; Infrastructure Nationale INGESTEM, Université Paris Sud, INSERM, Paris, France.
  • Lauterbach MA; INSERM, UMR-S 1270, Paris, France.
  • Guillon M; Sorbonne Université, Paris, France.
  • Kaneko K; Institut du Fer à Moulin, Paris, France.
  • Norris JW; INSERM, UMR-S 1270, Paris, France.
  • Siriwardena K; Sorbonne Université, Paris, France.
  • Blasér S; Institut du Fer à Moulin, Paris, France.
  • Teillon J; INSERM, UMR-S 1270, Paris, France.
  • Mendoza-Londono R; Sorbonne Université, Paris, France.
  • Russeau M; Institut du Fer à Moulin, Paris, France.
  • Hadoux J; INSERM, UMR-S 1270, Paris, France.
  • Ito S; Sorbonne Université, Paris, France.
  • Corvol P; Institut du Fer à Moulin, Paris, France.
  • Matheus MG; INSERM, UMR-S 1270, Paris, France.
  • Holden KR; Sorbonne Université, Paris, France.
  • Takei K; Institut du Fer à Moulin, Paris, France.
  • Emiliani V; Collège de France, Center for Interdisciplinary Research in Biology, Paris, France.
  • Bennaceur-Griscelli A; Sorbonne Université, Paris, France.
  • Schwartz CE; Institut du Fer à Moulin, Paris, France.
  • Nguyen G; Laboratory of Applied Biotechnology, Azm Center for the Research in Biotechnology and Its Applications, Doctoral School for Sciences and Technology, Lebanese University, Tripoli, Lebanon.
  • Groszer M; Reviva Regenerative Medicine Center, Human Genetic Center, Middle East Institute of Health Hospital, Bsalim, Lebanon.
J Clin Invest ; 129(5): 2145-2162, 2019 04 15.
Article em En | MEDLINE | ID: mdl-30985297
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Nervoso Central / Receptores de Superfície Celular / Doenças Neurodegenerativas / ATPases Vacuolares Próton-Translocadoras / Células-Tronco Pluripotentes Tipo de estudo: Prognostic_studies Limite: Adolescent / Animals / Child, preschool / Humans / Male Idioma: En Revista: J Clin Invest Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Nervoso Central / Receptores de Superfície Celular / Doenças Neurodegenerativas / ATPases Vacuolares Próton-Translocadoras / Células-Tronco Pluripotentes Tipo de estudo: Prognostic_studies Limite: Adolescent / Animals / Child, preschool / Humans / Male Idioma: En Revista: J Clin Invest Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos