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'학술논문'
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Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.
Academic Journal
Bakouh N; Translational Research in Neuroscience Lab, Institut Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Castaño-Martín R; Translational Research in Neuroscience Lab, Institut Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Metais A; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université Paris Cité, INSERM U1266, 75014 Paris, France.; Service de Neuropathologie, GHU-Paris Psychiatrie et Neurosciences, Hôpital Sainte Anne, F-75014 Paris, France.; Dan EL; STAR-UBB Institute, Babeş-Bolyai University, 400084 Cluj-Napoca, Romania.; Balducci E; Department of Pediatric Neurosurgery Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Department of Pediatric Neurology, Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Chhuon C; INSERM US24, Proteomic platform, SFR Necker, 75015 Paris, France.; Lepicka J; INSERM US24, Proteomic platform, SFR Necker, 75015 Paris, France.; Barcia G; Translational Research in Neuroscience Lab, Institut Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Department of Pediatric Neurosurgery Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Department of Pediatric Neurology, Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Losito E; Department of Pediatric Neurosurgery Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Department of Pediatric Neurology, Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Lourdel S; Cordeliers Research Center, INSERM, Sorbonne University, Paris Cité University, 75006 Paris, France.; CNRS EMR 8228-Laboratory of Renal Physiology and Tubulopathies, Université de Paris Cité, Centre de Recherche des Cordeliers, 75006 Paris, France.; Planelles G; Cordeliers Research Center, INSERM, Sorbonne University, Paris Cité University, 75006 Paris, France.; CNRS EMR 8228-Laboratory of Renal Physiology and Tubulopathies, Université de Paris Cité, Centre de Recherche des Cordeliers, 75006 Paris, France.; Muresan RC; STAR-UBB Institute, Babeş-Bolyai University, 400084 Cluj-Napoca, Romania.; Moca VV; STAR-UBB Institute, Babeş-Bolyai University, 400084 Cluj-Napoca, Romania.; Kaminska A; Department of Pediatric Neurosurgery Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Department of Pediatric Neurology, Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Bourgeois M; Department of Pediatric Neurosurgery Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Department of Pediatric Neurology, Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Chemaly N; Department of Pediatric Neurosurgery Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Department of Pediatric Neurology, Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Rguez Y; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université Paris Cité, INSERM U1266, 75014 Paris, France.; Auvin S; Hôpital Robert Debré, Assistance Publique Hôpitaux de Paris, 75019 Paris, France.; Huberfeld G; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université Paris Cité, INSERM U1266, 75014 Paris, France.; Varlet P; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université Paris Cité, INSERM U1266, 75014 Paris, France.; Service de Neuropathologie, GHU-Paris Psychiatrie et Neurosciences, Hôpital Sainte Anne, F-75014 Paris, France.; Asnafi V; Department of Pediatric Neurosurgery Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Department of Pediatric Neurology, Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Guerrera IC; INSERM US24, Proteomic platform, SFR Necker, 75015 Paris, France.; Kabashi E; Translational Research in Neuroscience Lab, Institut Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Nabbout R; Translational Research in Neuroscience Lab, Institut Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Department of Pediatric Neurosurgery Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Department of Pediatric Neurology, Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Ciura S; Translational Research in Neuroscience Lab, Institut Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Blauwblomme T; Translational Research in Neuroscience Lab, Institut Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Department of Pediatric Neurosurgery Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Department of Pediatric Neurology, Hôpital Necker, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Bergwitz C; Bastepe M; Rendina D; De Filippo G; Strazzullo P; Prie D; Friedlander G; Bergwitz, Clemens; Bastepe, Murat
In: New England Journal of Medicine ; (Waltham, Massachusetts) 12/11/2008; v.359 n .24, 2615-2617. (3p)
Academic Journal
Valayannopoulos, V.; Bakouh, N.; Mazzuca, M.; Nonnenmacher, L.; Hubert, L.; Makaci, F.L.; Chabli, A.; Salomons, G.S.; Mellot-Draznieks, C.; Brule, E.; de Lonlay, P.; Toulhoat, H.; Munnich, A.; Planelles, G.; de Keyzer, Y.
Valayannopoulos, V, Bakouh , N , Mazzuca, M, Nonnenmacher, L, Hubert, L, Makaci, F L, Chabli, A, Salomons, G S, Mellot-Draznieks, C, Brule, E, de Lonlay, P, Toulhoat, H, Munnich, A, Planelles, G & de Keyzer, Y 2013, 'Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome', Journal of Inherited Metabolic Disease, vol. 36, no. 1, pp. 103-112. https://doi.org/10.1007/s10545-012-9495-9
Academic Journal
Transfusion clinique et biologique. March-April, 2006, Vol. 13 Issue 1-2, p139, 8 p.
Academic Journal
Bignon Y; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.; CNRS ERL8228, Paris, France.; Sakhi I; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.; CNRS ERL8228, Paris, France.; Bitam S; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.; CNRS ERL8228, Paris, France.; Bakouh N; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.; CNRS ERL8228, Paris, France.; Keck M; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.; CNRS ERL8228, Paris, France.; Frachon N; CNRS ERL8228, Paris, France.; Paulais M; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.; CNRS ERL8228, Paris, France.; Planelles G; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.; CNRS ERL8228, Paris, France.; Teulon J; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.; CNRS ERL8228, Paris, France.; Andrini O; Institut NeuroMyoGène, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Academic Journal
Le Gars, M.; Descamps, D.; Bakouh, N.; Planelles, G.; Hong, S.; Boulanger, P.; Huerre, M.; Chignard, M.; Sallenave, J.-M.
Journal of Cystic Fibrosis. 9:S45-S45
Academic Journal
Journal of Cystic Fibrosis. 5:S7-S7
Academic Journal
Cheval L; Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, Paris, France.; Centre National de la Recherche Scientifique, ERL 8228, Paris, France.; Bakouh N; Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, Paris, France.; Centre National de la Recherche Scientifique, ERL 8228, Paris, France.; Walter C; Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, Paris, France.; Centre National de la Recherche Scientifique, ERL 8228, Paris, France.; Tembely D; Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, Paris, France.; Centre National de la Recherche Scientifique, ERL 8228, Paris, France.; Morla L; Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, Paris, France.; Centre National de la Recherche Scientifique, ERL 8228, Paris, France.; Escher G; Department of Nephrology and Hypertension, Inselspital, Bern University Hospital, Bern, Switzerland.; Vogt B; Department of Nephrology and Hypertension, Inselspital, Bern University Hospital, Bern, Switzerland.; Crambert G; Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, Paris, France.; Centre National de la Recherche Scientifique, ERL 8228, Paris, France.; Planelles G; Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, Paris, France.; Centre National de la Recherche Scientifique, ERL 8228, Paris, France.; Doucet A; Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Université Sorbonne Paris Cité, Université Paris Descartes, Université Paris Diderot, Paris, France.; Centre National de la Recherche Scientifique, ERL 8228, Paris, France.
Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901990 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1466 (Electronic) Linking ISSN: 15221466 NLM ISO Abbreviation: Am J Physiol Renal Physiol Subsets: MEDLINE
Academic Journal
Bakouh, N.; Castano, R.; Metais, A.; Balducci, E.; Losito, E.; Barcia, G.; Guerrera, C.; Asnafi, V.; Kabashi, E.; Varlet, P.; Nabbout, R.; Ciuria, S.; Blauwblomme, T.
Academic Journal
Fila M; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Sassi A; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Brideau G; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Cheval L; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Morla L; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Houillier P; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Walter C; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Gennaoui M; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Collignon L; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Keck M; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Planelles G; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Bakouh N; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Peuchmaur M; Cytology and Pathology Department and.; Deschênes G; Pediatric Nephrology Department, Robert Debré Hospital, Paris, France.; Anegon I; INSERM UMR 1064, Center for Research in Transplantation and Immunology Transgenic Rats ImmunoPhenomic Facility, Nantes, France.; Remy S; INSERM UMR 1064, Center for Research in Transplantation and Immunology Transgenic Rats ImmunoPhenomic Facility, Nantes, France.; Vogt B; Department of Nephrology and Hypertension, Inselspital, Bern University Hospital, Bern, Switzerland.; Crambert G; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.; Doucet A; Cordeliers Research Center, Sorbonne University, INSERM, University of Paris, Laboratory of Renal Metabolism and Physiology, Paris, France.; CNRS, ERL8228, Paris, France.
Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE
Academic Journal
Bakouh N; INSERM U 845, Paris, France; Faculté de Médecine, Université René Descartes, Paris V, Paris, France.; Bienvenu T; Thomas A; Ehrenfeld J; Liote H; Roussel D; Duquesnoy P; Farman N; Viel M; Cherif-Zahar B; Amselem S; Taam RA; Edelman A; Planelles G; Sermet-Gaudelus I
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Academic Journal
S. Elmorabit; L. Herrak; I. Malzi; O. Bakouh; H. Elouazzani; N. Jmili; L. Achachi; M. El Ftouh; M.T. El Fassy Fihri
Revue des Maladies Respiratoires. 29:A146
Academic Journal
O. Bakouh; L. Herrak; H. Moubachir; S. El Machichi Alami; N. Jmili; H. El Ouazzani; L. Achachi; M. El Ftouh; M.T. El Fassy Fihry
Revue des Maladies Respiratoires. 29:A146
Academic Journal
I. Malzi; L. Herraq; S. Elmorabit; W. Bakouh; N. Jmili; H. Elouazzani; L. Achachi; M. Elftouh; M.T. Elfassyfihri; M. Bouchikh; M. Maidi; H. Fennane; F. Ouchen; A. Achir; A. Benosmane
Revue des Maladies Respiratoires. 29:A196
Academic Journal
Rode B; INSERM, U1016, Institut Cochin, Paris, France.; Dirami T; Bakouh N; Rizk-Rabin M; Norez C; Lhuillier P; Lorès P; Jollivet M; Melin P; Zvetkova I; Bienvenu T; Becq F; Planelles G; Edelman A; Gacon G; Touré A
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Academic Journal
Bakouh N; Inserm UMRS-845, Paris, France.; Chérif-Zahar B; Hulin P; Prié D; Friedlander G; Edelman A; Planelles G
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Academic Journal
Courbebaisse M; Faculté de Médecine, Université Paris Descartes, Paris, France.; Leroy C; Bakouh N; Salaün C; Beck L; Grandchamp B; Planelles G; Hall RA; Friedlander G; Prié D
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
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[검색어] Bakouh, N.
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