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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
67
2021
Author NameAffiliation
Monika Ol??hov??the Translational and Clinical Research Institute (J.J.C, Newcastle University, and the Institute of Child Health, University College London Institute of Neurology (D.Z., Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., CHU de Montpellier, INSERM, CNRS, University of Montpellier (P.M., and the Institute for Integrative Biology of the Cell (I2BC), Universite Paris-Saclay, CNRS Gif-sur-Yvette (F.P.-P., University of Helsinki, Albert Einstein College of Medicine, New York (N.M.-L.) the Institute of Medical Genetics, University of Zurich, A.R.) Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tubingen, King Faisal Specialist Hospital and Research Center, Saudi Arabia and the Dr. John T. Macdonald Foundation, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami
Andrew M Schaeferthe Translational and Clinical Research Institute (J.J.C, Newcastle University, and the Institute of Child Health, University College London Institute of Neurology (D.Z., Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., CHU de Montpellier, INSERM, CNRS, University of Montpellier (P.M., and the Institute for Integrative Biology of the Cell (I2BC), Universite Paris-Saclay, CNRS Gif-sur-Yvette (F.P.-P., University of Helsinki, Albert Einstein College of Medicine, New York (N.M.-L.) the Institute of Medical Genetics, University of Zurich, A.R.) Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tubingen, King Faisal Specialist Hospital and Research Center, Saudi Arabia and the Dr. John T. Macdonald Foundation, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami
Stephan Z??chnerthe Translational and Clinical Research Institute (J.J.C, Newcastle University, and the Institute of Child Health, University College London Institute of Neurology (D.Z., Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., CHU de Montpellier, INSERM, CNRS, University of Montpellier (P.M., and the Institute for Integrative Biology of the Cell (I2BC), Universite Paris-Saclay, CNRS Gif-sur-Yvette (F.P.-P., University of Helsinki, Albert Einstein College of Medicine, New York (N.M.-L.) the Institute of Medical Genetics, University of Zurich, A.R.) Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tubingen, King Faisal Specialist Hospital and Research Center, Saudi Arabia and the Dr. John T. Macdonald Foundation, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami
In??s A Barbosathe Translational and Clinical Research Institute (J.J.C, Newcastle University, and the Institute of Child Health, University College London Institute of Neurology (D.Z., Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., CHU de Montpellier, INSERM, CNRS, University of Montpellier (P.M., and the Institute for Integrative Biology of the Cell (I2BC), Universite Paris-Saclay, CNRS Gif-sur-Yvette (F.P.-P., University of Helsinki, Albert Einstein College of Medicine, New York (N.M.-L.) the Institute of Medical Genetics, University of Zurich, A.R.) Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tubingen, King Faisal Specialist Hospital and Research Center, Saudi Arabia and the Dr. John T. Macdonald Foundation, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami
Charu Deshpandethe Translational and Clinical Research Institute (J.J.C, Newcastle University, and the Institute of Child Health, University College London Institute of Neurology (D.Z., Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., CHU de Montpellier, INSERM, CNRS, University of Montpellier (P.M., and the Institute for Integrative Biology of the Cell (I2BC), Universite Paris-Saclay, CNRS Gif-sur-Yvette (F.P.-P., University of Helsinki, Albert Einstein College of Medicine, New York (N.M.-L.) the Institute of Medical Genetics, University of Zurich, A.R.) Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tubingen, King Faisal Specialist Hospital and Research Center, Saudi Arabia and the Dr. John T. Macdonald Foundation, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami
Fowzan S Alkurayathe Translational and Clinical Research Institute (J.J.C, Newcastle University, and the Institute of Child Health, University College London Institute of Neurology (D.Z., Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., CHU de Montpellier, INSERM, CNRS, University of Montpellier (P.M., and the Institute for Integrative Biology of the Cell (I2BC), Universite Paris-Saclay, CNRS Gif-sur-Yvette (F.P.-P., University of Helsinki, Albert Einstein College of Medicine, New York (N.M.-L.) the Institute of Medical Genetics, University of Zurich, A.R.) Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tubingen, King Faisal Specialist Hospital and Research Center, Saudi Arabia and the Dr. John T. Macdonald Foundation, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami
Mina Rytenthe Translational and Clinical Research Institute (J.J.C, Newcastle University, and the Institute of Child Health, University College London Institute of Neurology (D.Z., Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., CHU de Montpellier, INSERM, CNRS, University of Montpellier (P.M., and the Institute for Integrative Biology of the Cell (I2BC), Universite Paris-Saclay, CNRS Gif-sur-Yvette (F.P.-P., University of Helsinki, Albert Einstein College of Medicine, New York (N.M.-L.) the Institute of Medical Genetics, University of Zurich, A.R.) Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tubingen, King Faisal Specialist Hospital and Research Center, Saudi Arabia and the Dr. John T. Macdonald Foundation, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami
Robert McFarlandthe Translational and Clinical Research Institute (J.J.C, Newcastle University, and the Institute of Child Health, University College London Institute of Neurology (D.Z., Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., CHU de Montpellier, INSERM, CNRS, University of Montpellier (P.M., and the Institute for Integrative Biology of the Cell (I2BC), Universite Paris-Saclay, CNRS Gif-sur-Yvette (F.P.-P., University of Helsinki, Albert Einstein College of Medicine, New York (N.M.-L.) the Institute of Medical Genetics, University of Zurich, A.R.) Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tubingen, King Faisal Specialist Hospital and Research Center, Saudi Arabia and the Dr. John T. Macdonald Foundation, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami
Robert W Taylorthe Translational and Clinical Research Institute (J.J.C, Newcastle University, and the Institute of Child Health, University College London Institute of Neurology (D.Z., Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom Institut Universitaire de Recherche Clinique and Laboratoire de Genetique Moleculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., CHU de Montpellier, INSERM, CNRS, University of Montpellier (P.M., and the Institute for Integrative Biology of the Cell (I2BC), Universite Paris-Saclay, CNRS Gif-sur-Yvette (F.P.-P., University of Helsinki, Albert Einstein College of Medicine, New York (N.M.-L.) the Institute of Medical Genetics, University of Zurich, A.R.) Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tubingen, King Faisal Specialist Hospital and Research Center, Saudi Arabia and the Dr. John T. Macdonald Foundation, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami
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