المؤلفون: Omrani, A, van der Vaart, T, Mientjes, E, van Woerden, GM, Hojjati, MR, Li, KW, Gutmann, DH, Levelt, CN, Smit, AB, Silva, AJ, Kushner, SA, Elgersma, Y

المصدر: Molecular Psychiatry. 20(11)

مصطلحات موضوعية: Behavioral and Social Science, Basic Behavioral and Social Science, Rare Diseases, Neurosciences, Neurofibromatosis, Aetiology, 2.1 Biological and endogenous factors, Animals, Cognition Disorders, Disease Models, Animal, Excitatory Amino Acid Antagonists, Excitatory Postsynaptic Potentials, Hippocampus, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Lamotrigine, Male, Maze Learning, Mice, Mice, Inbred C57BL, Mice, Transgenic, Motor Activity, Mutation, Neural Inhibition, Neurofibromatosis 1, Neurofibromin 1, Neuronal Plasticity, Neurons, Potassium Channels, Pyrimidines, Signal Transduction, Triazines, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/93g6t7s9

المؤلفون: Carmen B. Schäfer, Zhenyu Gao, Mark Nellist, de Brito van Velze M, van Woerden Gm, Linda M. C. Koene, Martina Proietti Onori, Ype Elgersma

مصطلحات موضوعية: Mutation, biology, Cortical malformations, medicine.disease, Somatosensory system, medicine.disease_cause, Phenotype, Epilepsy, medicine, biology.protein, Generalized epilepsy, Neuroscience, PI3K/AKT/mTOR pathway, RHEB

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::be8fbf565f9d47d4cca947158b943be9
https://doi.org/10.1101/2020.07.08.189399

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المؤلفون: Heuvelmans AM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands; The ENCORE Expertise Center for Neurodevelopmental Disorders, Rotterdam 3015 CN, the Netherlands. Electronic address: a.heuvelmans@erasmusmc.nl., Proietti Onori M; The ENCORE Expertise Center for Neurodevelopmental Disorders, Rotterdam 3015 CN, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands., Frega M; Department of Clinical Neurophysiology, University of Twente, 7522 NB Enschede, the Netherlands., de Hoogen JD; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands., Nel E; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands., Elgersma Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands; The ENCORE Expertise Center for Neurodevelopmental Disorders, Rotterdam 3015 CN, the Netherlands., van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands; The ENCORE Expertise Center for Neurodevelopmental Disorders, Rotterdam 3015 CN, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands. Electronic address: g.vanwoerden@erasmusmc.nl.

المصدر: Experimental neurology [Exp Neurol] 2024 Sep; Vol. 379, pp. 114874. Date of Electronic Publication: 2024 Jun 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 0370712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2430 (Electronic) Linking ISSN: 00144886 NLM ISO Abbreviation: Exp Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Hippocampus* , Neurons*/drug effects , Neurons*/metabolism , Epilepsy*/pathology , Tuberous Sclerosis Complex 1 Protein*/genetics, Animals ; Mice ; Cells, Cultured ; TOR Serine-Threonine Kinases/metabolism ; Mechanistic Target of Rapamycin Complex 1/metabolism ; Disease Models, Animal ; Ras Homolog Enriched in Brain Protein/genetics ; Mice, Knockout ; Mice, Inbred C57BL

المؤلفون: van Houtum LAEM; Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC, University Medical Centre-Sophia, Rotterdam, The Netherlands., Baaré WFC; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital-Amager and Hvidovre, Copenhagen, Denmark., Beckmann CF; Centre for Functional MRI of the Brain, Wellcome Centre for Integrative Neuroimaging, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Department of Cognitive Neuroscience, Radboud University Medical Centre, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, the Netherlands., Castro-Fornieles J; Department of Child and Adolescent Psychiatry and Psychology, 2021SGR01319, Institut Clinic de Neurociències, Hospital Clínic de Barcelona, FCRB-IDIBAPS, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Department of Medicine, Institute of Neuroscience, University of Barcelona, Barcelona, Spain., Cecil CAM; Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC, University Medical Centre-Sophia, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands., Dittrich J; Concentris Research Management Gmbh, Fürstenfeldbruck, Germany., Ebdrup BH; Center for Neuropsychiatric Schizophrenia Research and Centre for Clinical Intervention and Neuropsychiatric Schizophrenia Research, Mental Health Centre Glostrup, University of Copenhagen, Glostrup, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Fegert JM; President European Society for Child and Adolescent Psychiatry (ESCAP), Brussels, Belgium.; Department of Child and Adolescent Psychiatry/Psychotherapy, University Hospital Ulm, Ulm, Germany., Havdahl A; PsychGen Centre for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health, Oslo, Norway.; PROMENTA Research Centre, Department of Psychology, University of Oslo, Oslo, Norway.; Nic Waals Institute, Lovisenberg Diaconal Hospital, Oslo, Norway., Hillegers MHJ; Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC, University Medical Centre-Sophia, Rotterdam, The Netherlands., Kalisch R; Leibniz Institute for Resilience Research, Mainz, Germany.; Neuroimaging Center (NIC), Focus Program Translational Neuroscience (FTN), Johannes Gutenberg University Medical Center, Mainz, Germany., Kushner SA; Department of Psychiatry, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands., Mansuy IM; Laboratory of Neuroepigenetics, Medical Faculty, Brain Research Institute, Department of Health Science and Technology of ETH, University of Zurich and Institute for Neuroscience, Zurich, Switzerland.; Zurich Neuroscience Centre, ETH and University of Zurich, Zurich, Switzerland., Mežinska S; Institute of Clinical and Preventive Medicine, University of Latvia, Riga, Latvia., Moreno C; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, IiSGM, CIBERSAM, ISCIII, School of Medicine, Universidad Complutense, Madrid, Spain., Muetzel RL; Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC, University Medical Centre-Sophia, Rotterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands., Neumann A; Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC, University Medical Centre-Sophia, Rotterdam, The Netherlands., Nordentoft M; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.; Copenhagen Research Centre for Mental Health, Mental Health Centre Copenhagen, Copenhagen University Hospital, Copenhagen, Denmark., Pingault JB; Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC, University Medical Centre-Sophia, Rotterdam, The Netherlands.; Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; Department of Clinical, Educational and Health Psychology, University College London, London, UK., Preisig M; Psychiatric Epidemiology and Psychopathology Research Centre, Department of Psychiatry, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Raballo A; Public Health Division, Department of Health and Social Care, Cantonal Socio-Psychiatric Organization, Repubblica e Cantone Ticino, Mendrisio, Switzerland.; Chair of Psychiatry, Faculty of Biomedical Sciences, Università Della Svizzera Italiana, Lugano, Switzerland., Saunders J; Executive Director European Federation of Associations of Families of People with Mental Illness (EUFAMI), Louvain, Belgium., Sprooten E; Department of Cognitive Neuroscience, Radboud University Medical Centre, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Sugranyes G; Department of Child and Adolescent Psychiatry and Psychology, 2021SGR01319, Institut Clinic de Neurociències, Hospital Clínic de Barcelona, FCRB-IDIBAPS, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Department of Medicine, Institute of Neuroscience, University of Barcelona, Barcelona, Spain., Tiemeier H; Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC, University Medical Centre-Sophia, Rotterdam, The Netherlands.; Department of Social and Behavioural Sciences, Harvard T.H. Chan School of Public Health, Boston, MA, USA., van Woerden GM; Department of Neuroscience, Erasmus University Medical Centre, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands., Vandeleur CL; Psychiatric Epidemiology and Psychopathology Research Centre, Department of Psychiatry, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., van Haren NEM; Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC, University Medical Centre-Sophia, Rotterdam, The Netherlands. n.vanharen@erasmusmc.nl.

المصدر: European child & adolescent psychiatry [Eur Child Adolesc Psychiatry] 2024 Apr 13. Date of Electronic Publication: 2024 Apr 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Country of Publication: Germany NLM ID: 9212296 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-165X (Electronic) Linking ISSN: 10188827 NLM ISO Abbreviation: Eur Child Adolesc Psychiatry Subsets: MEDLINE

المؤلفون: Rigter PMF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., de Konink C; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Dunn MJ; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA., Proietti Onori M; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Humberson JB; Pediatric Specialty Care, University of Virginia Health, Charlottesville, VA 22903, USA., Thomas M; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA., Barnes C; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA., Prada CE; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Fundacion Cardiovascular de Colombia, Bucaramanga, Colombia., Weaver KN; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Ryan TD; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Stollery Children's Hospital, Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2B7, Canada., Conway J; Stollery Children's Hospital, Department of Pediatrics, Division of Pediatric Cardiology, University of Alberta, Edmonton, AB T6G 2B7, Canada., Calamaro E; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Fong CT; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Wuyts W; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium., Meuwissen M; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium., Hordijk E; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Jonkers CN; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Anderson L; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Yuseinova B; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Polonia S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Beysen D; Department of Paediatric Neurology, University Hospital of Antwerp, 2650 Edegem, Belgium; Department of Translational Neurosciences, University of Antwerp, 2650 Edegem, Belgium., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics, Melbourne, VIC 3052, Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia., McKenzie F; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6009, Australia., Bhoj E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bupp CP; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Blevins A; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, 52074 Aachen, Germany., Veenma DCM; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Sophia Children's Hospital, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands., Schulman H; Department of Neurobiology, Stanford University, School of Medicine, Stanford, CA 94305, USA; Panorama Research Institute, Sunnyvale, CA 94089, USA., Stratton MM; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA., Küry S; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands. Electronic address: g.vanwoerden@erasmusmc.nl.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Feb 01; Vol. 111 (2), pp. 364-382. Date of Electronic Publication: 2024 Jan 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Calmodulin-Dependent Protein Kinase Type 2*/genetics , Calcium-Calmodulin-Dependent Protein Kinase Type 2*/metabolism , Cardiomyopathy, Dilated* , Intellectual Disability* , Neurodevelopmental Disorders*/genetics, Animals ; Humans ; Mice ; Heart

المؤلفون: Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Most V; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada., Scott-Boyer MP; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Golnik R; Klinik für Pädiatrie I, Universitätsklinikum Halle (Saale), 06120 Halle (Saale), Germany., Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Forster C; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., de Konink C; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Teurlings SMW; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Ades L; Department of Clinical Genetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, 75013 Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, 75013, Paris, France., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, Netherlands., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Yang S; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Hannig V; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Brault JA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, CA 92868, USA., Bennetts B; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, 2145, Australia., Keren B; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Gélineau AC; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Powis Z; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Towne M; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Bachman K; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Seeley A; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Beck AE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98195-6320, USA., Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID 83712, USA., Averill K; Department of Pediatrics, Division of Pediatric Neurology, UT Health Science Center at San Antonio, San Antonio, TX 78229, USA., Brunet T; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Haasters J; Klinikum der Universität München, Integriertes Sozialpädiatrisches Zentrum, 80337 Munich, Germany., Carter MT; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Forzano F; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Mohammed S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Trakadis Y; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Accogli A; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Harrison R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, City Hospital Campus, the Gables, Gate 3, Hucknall Road, Nottingham NG5 1PB, UK., Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Baujat G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Preisel M; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Laumonnier F; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, 37032 Tours, France., Kallinich T; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.; Deutsches Rheumaforschungszentrum, an institute of the Leibniz Association, Berlin and Berlin Institute of Health, 10117 Berlin, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Droit A; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Elgersma Y; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany.; Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, 10178 Berlin, Germany., Bolduc F; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.

المصدر: Science translational medicine [Sci Transl Med] 2023 May 31; Vol. 15 (698), pp. eabo3189. Date of Electronic Publication: 2023 May 31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Interferon Type I* , Proteasome Endopeptidase Complex*/metabolism, Animals ; Humans ; Mice ; Adenosine Triphosphatases/genetics ; Drosophila melanogaster ; Gene Expression ; Proteomics

المؤلفون: Rigter PMF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands., de Konink C; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands., van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands.

المصدر: Frontiers in neuroscience [Front Neurosci] 2023 Jan 06; Vol. 16, pp. 1086994. Date of Electronic Publication: 2023 Jan 06 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE

المؤلفون: Palmelund LB; University of Copenhagen, Department of Drug Design and Pharmacology, Universitetsparken 2, 2100 Copenhagen, Denmark., van Woerden GM; Erasmus University Medical Center, Department of Neuroscience and Department of Clinical Genetics, 3015, CN, Rotterdam, the Netherlands., Bräuner-Osborne H; University of Copenhagen, Department of Drug Design and Pharmacology, Universitetsparken 2, 2100 Copenhagen, Denmark., Wellendorph P; University of Copenhagen, Department of Drug Design and Pharmacology, Universitetsparken 2, 2100 Copenhagen, Denmark. Electronic address: pw@sund.ku.dk.

المصدر: Journal of pharmacological and toxicological methods [J Pharmacol Toxicol Methods] 2022 Nov-Dec; Vol. 118, pp. 107226. Date of Electronic Publication: 2022 Sep 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9206091 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-488X (Electronic) Linking ISSN: 10568719 NLM ISO Abbreviation: J Pharmacol Toxicol Methods Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Calmodulin-Dependent Protein Kinase Type 2*/metabolism , Signal Transduction*, Humans ; Phosphorylation ; HEK293 Cells ; Enzyme-Linked Immunosorbent Assay

المؤلفون: Rigter PMF; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Wallaard I; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Aghadavoud Jolfaei M; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Kingma J; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Post L; Department of Neuroscience, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Elgersma M; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., Elgersma Y; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands., van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; Department of Neuroscience, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.

المصدر: IScience [iScience] 2022 Oct 08; Vol. 25 (11), pp. 105303. Date of Electronic Publication: 2022 Oct 08 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE