Zobrazeno 1 - 10
of 1 383
pro vyhledávání: '"Neurotransmitter Transport"'
Autor:
Sanders K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Peck D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Bentz Pino G; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Studinski Jones A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., White A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Gavrilov D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Schultz M; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Hall PL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America. Electronic address: hall.patricia@mayo.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108455. Date of Electronic Publication: 2024 Mar 24.
Autor:
Goldstein J; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Thomas-Wilson A; New York Genome Center, New York, NY, USA., Groopman E; Children's National Hospital, 111 Michigan Ave NW, Washington, DC, USA., Aggarwal V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Bianconi S; Kaiser Permanente, Southern California Permanente Group, CA, USA., Fernandez R; American College of Medical Genetics and Genomics, Bethesda, MD, USA., Hart K; Newborn Screening Program, Utah Public Health Laboratory, Department of Health and Human Services, Salt Lake City, UT, USA., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Liang N; The Hospital for Sick Children, Toronto, Canada., Reich D; Newborn Screening Program, Utah Public Health Laboratory, Department of Health and Human Services, Salt Lake City, UT, USA., Wallis H; Association for Creatine Deficiencies, Carlsbad, CA, USA., Weaver M; American College of Medical Genetics and Genomics, Bethesda, MD, USA., Young S; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Mercimek-Andrews S; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. Electronic address: saadet@ualberta.ca.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108362. Date of Electronic Publication: 2024 Mar 02.
Autor:
Tauer K; University of Cincinnati College of Medicine., Theile C; University of Cincinnati College of Medicine., Owens JW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center.; Department of Pediatrics, University of Cincinnati College of Medicine., Cecil KM; Department of Radiology, Cincinnati Children's Hospital Medical Center.; Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center.; Department of Pediatrics, University of Cincinnati College of Medicine.
Publikováno v:
Psychiatric genetics [Psychiatr Genet] 2024 Aug 01; Vol. 34 (4), pp. 86-90. Date of Electronic Publication: 2024 Jun 04.
Autor:
Ferrada E; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria. Electronic address: EFerrada@cemm.oeaw.ac.at., Wiedmer T; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Wang WA; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Frommelt F; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Steurer B; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Klimek C; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Lindinger S; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Osthushenrich T; Bayer AG, Pharmaceuticals, Wuppertal, Germany., Garofoli A; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Brocchetti S; Axxam SpA, Bresso, Milano, Italy., Bradberry S; Axxam SpA, Bresso, Milano, Italy., Huang J; Department of Pharmaceutical Sciences, University of Vienna, Vienna, Austria., MacNamara A; Bayer AG, Pharmaceuticals, Wuppertal, Germany., Scarabottolo L; Axxam SpA, Bresso, Milano, Italy., Ecker GF; Department of Pharmaceutical Sciences, University of Vienna, Vienna, Austria., Malarstig A; Pfizer Worldwide Research, Development and Medical, Stockholm, Sweden., Superti-Furga G; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Center for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria. Electronic address: GSuperti@cemm.oeaw.ac.at.
Publikováno v:
Journal of molecular biology [J Mol Biol] 2024 Jan 15; Vol. 436 (2), pp. 168383. Date of Electronic Publication: 2023 Dec 07.
Autor:
Horvat D; Department of Neurology, Walter Reed National Military Medical Center, 8901 Wisconsin Ave., Bethesda, MD, 20889 USA., Kaminski M; University of Maryland, 1000 Hilltop Cir, Baltimore, MD, 21250 USA., Ma Y; Department of Neurology, Walter Reed National Military Medical Center, 8901 Wisconsin Ave., Bethesda, MD, 20889 USA. Electronic address: yitao.ma.civ@health.mil.
Publikováno v:
Seizure [Seizure] 2023 Dec; Vol. 113, pp. 16-18. Date of Electronic Publication: 2023 Oct 23.
Autor:
Ün D; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Kovalchuk V; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., El-Kasaby A; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Kasture A; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.; Department of Neuroscience and Developmental Biology, University of Vienna, Vienna, Austria., Koban F; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Kudlacek O; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Freissmuth M; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Sucic S; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.
Publikováno v:
Journal of neurochemistry [J Neurochem] 2024 Sep; Vol. 168 (9), pp. 2007-2021. Date of Electronic Publication: 2024 Feb 28.
Autor:
Kuempers C; Institute of Pathology, University Hospital Schleswig-Holstein, Campus Luebeck, Luebeck, Germany. christiane.kuempers@uksh.de.; Airway Research Center North (ARCN), Member of the German Center for Lung Research (DZL), Großhansdorf, Germany., Schnepf K; Medical Clinic III, Pulmonology, University Hospital Schleswig-Holstein, Campus Luebeck, Luebeck, Germany., Marwitz S; Airway Research Center North (ARCN), Member of the German Center for Lung Research (DZL), Großhansdorf, Germany.; Histology, Research Center Borstel-Leibniz Lung Center, Borstel, Germany., Watermann C; Institute of Pathology, University Hospital Schleswig-Holstein, Campus Luebeck, Luebeck, Germany., Scheel AH; Institute of Pathology, University Hospital of Cologne, University of Cologne, Cologne, Germany., Fischer RN; Lung Cancer Group Cologne, Department I for Internal Medicine and Center for Integrated Oncology Aachen Bonn Cologne Dusseldorf, Faculty of Medicine and University Hospital of Cologne, University of Cologne, Cologne, Germany., Ammerpohl O; Airway Research Center North (ARCN), Member of the German Center for Lung Research (DZL), Großhansdorf, Germany.; Institute of Human Genetics, University Medical Center Ulm, Ulm, Germany., Perner S; Institute for Hematopathology Hamburg, Hamburg, Germany., Drömann D; Airway Research Center North (ARCN), Member of the German Center for Lung Research (DZL), Großhansdorf, Germany.; Medical Clinic III, Pulmonology, University Hospital Schleswig-Holstein, Campus Luebeck, Luebeck, Germany., Goldmann T; Airway Research Center North (ARCN), Member of the German Center for Lung Research (DZL), Großhansdorf, Germany.; Histology, Research Center Borstel-Leibniz Lung Center, Borstel, Germany.
Publikováno v:
Histology and histopathology [Histol Histopathol] 2024 Jul; Vol. 39 (7), pp. 867-876. Date of Electronic Publication: 2024 Mar 07.
Autor:
Sawant H; Department of Clinical and Translational Sciences, Joan C. Edwards School of Medicine, Marshall University, Huntington, WV 25701, USA., Selvaraj R; Department of Clinical and Translational Sciences, Joan C. Edwards School of Medicine, Marshall University, Huntington, WV 25701, USA., Manogaran P; Department of Clinical and Translational Sciences, Joan C. Edwards School of Medicine, Marshall University, Huntington, WV 25701, USA., Borthakur A; Department of Clinical and Translational Sciences, Joan C. Edwards School of Medicine, Marshall University, Huntington, WV 25701, USA.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jun 13; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 13.
Autor:
Curie A; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Lion-François L; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Valayannopoulos V; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Perreton N; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Gavanon M; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Touil N; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Brun-Laurisse A; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Gheurbi F; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Buchy M; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Halep H; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Cheillan D; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Mercier C; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Brassier A; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Desnous B; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Kassai B; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., De Lonlay P; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France., Des Portes V; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.
Publikováno v:
Neurology [Neurology] 2024 Apr 23; Vol. 102 (8), pp. e209243. Date of Electronic Publication: 2024 Mar 26.
Autor:
Mabondzo A; Paris Saclay University, CEA, Medicines and Healthcare Technologies Department (MTS), SPI, Neurovascular Unit Research and Therapeutic Innovation Laboratory, 91191, Gif-sur-Yvette cedex, France. Aloise.mabondzo@cea.fr., van de Kamp J; Department of Human Genetics, Amsterdam UMC, Vrije Universtiteit Amsterdam, Amsterdam, The Netherlands., Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine and Dentistry, Neurosciences and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.
Publikováno v:
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 Apr 17; Vol. 81 (1), pp. 186. Date of Electronic Publication: 2024 Apr 17.