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J Clin Invest
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
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The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Journal of Clinical Investigation, 133, 10
Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; ... (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The journal of clinical investigation, 133(10) American Society for Clinical Investigation 10.1172/JCI165019

Cho PSP; Department of Respiratory Medicine, King's College Hospital NHS Foundation Trust, London, UK.; Centre for Human and Applied Physiological Sciences, King's College London, London, UK.; Birring SS; Department of Respiratory Medicine, King's College Hospital NHS Foundation Trust, London, UK.; Centre for Human and Applied Physiological Sciences, King's College London, London, UK.; McDowell C; Northern Ireland Clinical Research Network, Belfast, UK.; Brown T; Northern Ireland Clinical Research Network, Belfast, UK.; Hull JH; Airway Disease Section, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; University College London, London, UK.; Smith JA; NIHR Manchester Clinical Research Facility, School of Biological Sciences, Faculty of Biology, Medicine and Health Sciences, The University of Manchester, Manchester, UK.; Manchester University NHS Foundation Trust, Manchester, UK.; Guilleminault L; Toulouse Institute for Infectious and Inflammatory Diseases (Infinity), INSERM UMR1291, CNRS UMR5051, University Toulouse, Toulouse, France.; Department of Respiratory Medicine, Toulouse University Hospital, Faculty of Medicine, Toulouse, France.; Kardos P; Group Practice and Centre for Allergy, Respiratory and Sleep Medicine, Red Cross Maingau Hospital, Frankfurt, Germany.; van den Berg JW; Isala Hospital, Zwolle, Netherlands.; Domingo C; Pulmonology Department, Consorci Corporació Sanitària Parc Taulí, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Marsden P; NIHR Manchester Clinical Research Facility, School of Biological Sciences, Faculty of Biology, Medicine and Health Sciences, The University of Manchester, Manchester, UK.; Manchester University NHS Foundation Trust, Manchester, UK.; Idzko M; Department of Pneumology, University Hospital Vienna AKH, Medical University of Vienna, Vienna, Austria.; Lavorini F; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.; Martin MJ; Nottingham Respiratory Research Unit, Nottingham Biomedical Research Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Slinger C; Lancashire Teaching Hospitals NHS Trust, Preston, UK.; Demoulin-Alexikova S; Univ. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, U1019 - UMR 9017 - CIIL - Center for Infection and Immunity of Lille, Lille, France.; Stolz D; Clinic of Pneumology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Michels AJ; Anna Hospital, Geldrop, Netherlands.; Tirzite M; Riga Stradins University, Riga, Latvia.; Clinical centre Gailezers, Riga East University Hospital, Riga, Latvia.; Gradauskiene B; Department of Immunology and Allergology, Lithuanian University of Health Sciences, Kaunas, Lithuania.; Winck JC; Cardiovascular R&D Centre, Faculdade de Medicina da Universidade do Porto, Porto, Portgual.; Chronic Cough Clinic and Sleep and Ventilation Unit, Instituto CUF Porto, Porto, Portugal.; Emilsson OI; Department of Medical Sciences, Respiratory, Allergy and Sleep Research, Uppsala University, Uppsala, Sweden.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Kaltsakas G; Centre for Human and Applied Physiological Sciences, King's College London, London, UK.; University Department of Respiratory Medicine, National and Kapodistrian University of Athens, 'Sotiria' Chest Hospital, Athens, Greece.; Lane Fox Respiratory Service, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Hyldgaard C; Medical Diagnostic Center, University Clinic for Innovative Patient Pathways, Regional Hospital Central Jutland, Viborg, Denmark.; Chung KF; Airway Disease Section, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK.; Millqvist E; Department of Internal Medicine/Respiratory Medicine and Allergology, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.; Narayanan A; Department of Data Science and AI, Auckland University of Technology, Auckland, New Zealand.; Gossage L; Department of Psychology and Neuroscience, Faculty of Health and Environmental Sciences, Auckland University of Technology, Auckland, New Zealand.; Buchwald-Mackintosh K; School of Clinical Sciences, Auckland University of Technology, Auckland, New Zealand.; Siegert RJ; Department of Psychology and Neuroscience, Faculty of Health and Environmental Sciences, Auckland University of Technology, Auckland, New Zealand.; Schulte M; UZ Leuven, Leuven, Belgium.; Nair A; Belfast City Hospital, Belfast, UK.; Nelson J; Northumbria Healthcare NHS Foundation Trust, North Shields, UK.; Parker SM; Department of Respiratory Medicine, North Tyneside General Hospital, Northumbria Healthcare NHS Foundation Trust, North Shields, UK.; Dąbrowska M; Department of Internal Medicine, Pulmonary Diseases and Allergy, Medical University of Warsaw, Warsaw, Poland.; Morice A; Hull York Medical School, University of Hull, Castle Hill Hospital, Cottingham, UK.; Dupont LJA; Department of Respiratory Diseases, University Hospital Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.; McGarvey L; Wellcome Wolfson Institute of Experimental Medicine, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.

Publisher: European Respiratory Society Country of Publication: England NLM ID: 101671641 Publication Model: eCollection Cited Medium: Print ISSN: 2312-0541 (Print) Linking ISSN: 23120541 NLM ISO Abbreviation: ERJ Open Res Subsets: PubMed not MEDLINE

Bergan, S.; Brunet, M.; Hesselink, D.A.; Johnson-Davis, K.L.; Kunicki, P.K.; Lemaitre, F.; Marquet, P.; Molinaro, M.; Noceti, O.; Pattanaik, S.; Pawinski, T.; Seger, C.; Shipkova, M.; Swen, J.J.; Gelder, T. van; Venkataramanan, R.; Wieland, E.; Woillard, J.B.; Zwart, T.C.; Barten, M.J.; Budde, K.; Dieterlen, M.T.; Elens, L.; Haufroid, V.; Masuda, S.; Millan, O.; Mizuno, T.; Moes, D.J.A.R.; Oellerich, M.; Picard, N.; Salzmann, L.; Tonshoff, B.; Schaik, R.H.N. van; Vethe, N.T.; Vinks, A.A.; Wallemacq, P.; Asberg, A.; Langman, L.J.

Therapeutic drug monitoring, Vol. 43, no. 2, p. 150-200 (2021)
Therapeutic Drug Monitoring, Vol. 43, no.2, p. 150-200 (2021)

Putzolu M; Department of Experimental Medicine, Section of Human Physiology, University of Genoa, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino, Genoa, Italy.; Sarasso E; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.; Neurotech Hub, Vita-Salute San Raffaele University, Milan, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa, Genoa, Italy.; Canu E; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.; Neurotech Hub, Vita-Salute San Raffaele University, Milan, Italy.; Gardoni A; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.; Neurotech Hub, Vita-Salute San Raffaele University, Milan, Italy.; Ravizzotti E; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa, Genoa, Italy.; Mezzarobba S; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa, Genoa, Italy.; Basaia S; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.; Neurotech Hub, Vita-Salute San Raffaele University, Milan, Italy.; Avanzino L; Department of Experimental Medicine, Section of Human Physiology, University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino, Genoa, Italy.; Filippi M; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.; Neurotech Hub, Vita-Salute San Raffaele University, Milan, Italy.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurophysiology Service, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Agosta F; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy. agosta.federica@hsr.it.; Neurotech Hub, Vita-Salute San Raffaele University, Milan, Italy. agosta.federica@hsr.it.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy. agosta.federica@hsr.it.; Pelosin E; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino, Genoa, Italy.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

de Jong DM; Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; de Jonge PJF; Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Stassen PMC; Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Karagyozov P; Clinic of Gastroenterology, Acibadem City Clinic University Hospital Tokuda, Sofia, Bulgaria.; Vila JJ; Endoscopy Unit, Gastroenterology Department, Hospital Universitario de Navarra, IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.; Fernández-Urién I; Endoscopy Unit, Gastroenterology Department, Hospital Universitario de Navarra, IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.; James MW; NIHR Nottingham Biomedical Research Centre, Nottingham University Hospitals NHS Trust, and School of Medicine, University of Nottingham, Nottingham, United Kingdom.; Venkatachalapathy SV; NIHR Nottingham Biomedical Research Centre, Nottingham University Hospitals NHS Trust, and School of Medicine, University of Nottingham, Nottingham, United Kingdom.; Oppong KW; Department of Gastroenterology and Hepatology, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom.; Anderloni A; Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.; Repici A; Endoscopy Unit, IRCCS Humanitas Research Hospital, Milan, Italy.; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; Gabbiadini R; Endoscopy Unit, IRCCS Humanitas Research Hospital, Milan, Italy.; Joshi D; Institute of Liver Studies, King's College Hospital NHS Foundation Trust, London, United Kingdom.; Ellrichmann M; Interdisciplinary Endoscopy, Medical Department 1, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.; Kylänpää L; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Helsinki, Finland.; Udd M; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Helsinki, Finland.; van der Heide F; Department of Gastroenterology and Hepatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Hindryckx P; Department of Gastroenterology and Hepatology, University Hospital of Ghent, Ghent, Belgium.; Corbett G; Department of Gastroenterology and Hepatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Basiliya K; Department of Gastroenterology and Hepatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Cennamo V; Gastroenterology and Interventional Endoscopy Unit, Local Health Authority of Bologna, Bologna, Italy.; Landi S; Gastroenterology and Interventional Endoscopy Unit, Local Health Authority of Bologna, Bologna, Italy.; Phillpotts S; Department of Gastroenterology, University College London Hospitals NHS Foundation Trust, London, United Kingdom.; Webster GJ; Department of Gastroenterology, University College London Hospitals NHS Foundation Trust, London, United Kingdom.; Bruno MJ; Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Publisher: Georg Thieme Verlag Country of Publication: Germany NLM ID: 0215166 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1438-8812 (Electronic) Linking ISSN: 0013726X NLM ISO Abbreviation: Endoscopy Subsets: MEDLINE

Balestrino R; Vita-Salute San Raffaele University, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Rinaldi D; NESMOS Department, Faculty of Medicine and Psychology, Neurology Unit, Sapienza University of Rome, Sant'Andrea University Hospital, 00189, Rome, Italy.; Galli S; Department of Neurosciences Rita Levi Montalcini, University of Turin, Turin, Italy.; Romagnolo A; Department of Neurosciences Rita Levi Montalcini, University of Turin, Turin, Italy.; SC Neurologia 2U, AOU Città Della Salute E Della Scienza, Turin, Italy.; Erro R; Neuroscience Section, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Baronissi, (Province of Salerno), Italy.; Ledda C; Department of Neurosciences Rita Levi Montalcini, University of Turin, Turin, Italy.; SC Neurologia 2U, AOU Città Della Salute E Della Scienza, Turin, Italy.; Donzuso G; Department of Medical, Surgical Sciences and Advanced Technologies 'GF Ingrassia', University of Catania, Catania, Italy.; Picillo M; Neuroscience Section, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Baronissi, (Province of Salerno), Italy.; Terravecchia C; Department of Medical, Surgical Sciences and Advanced Technologies 'GF Ingrassia', University of Catania, Catania, Italy.; Agosta F; Vita-Salute San Raffaele University, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Center for Alzheimer's Disease and Related Disorders (CARD), IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurotech Hub, Vita-Salute San Raffaele University, Milan, Italy.; Barone P; Neuroscience Section, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Baronissi, (Province of Salerno), Italy.; IRCCS SynlabSDN, Naples, Italy.; Lopiano L; Department of Neurosciences Rita Levi Montalcini, University of Turin, Turin, Italy.; SC Neurologia 2U, AOU Città Della Salute E Della Scienza, Turin, Italy.; Nicoletti A; Department of Medical, Surgical Sciences and Advanced Technologies 'GF Ingrassia', University of Catania, Catania, Italy.; Filippi M; Vita-Salute San Raffaele University, Milan, Italy. filippi.massimo@hsr.it.; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. filippi.massimo@hsr.it.; Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy. filippi.massimo@hsr.it.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy. filippi.massimo@hsr.it.; Center for Alzheimer's Disease and Related Disorders (CARD), IRCCS San Raffaele Scientific Institute, Milan, Italy. filippi.massimo@hsr.it.; Neurotech Hub, Vita-Salute San Raffaele University, Milan, Italy. filippi.massimo@hsr.it.; Neurophysiology Service, IRCCS San Raffaele Scientific Institute, Milan, Italy. filippi.massimo@hsr.it.; Martinez-Martin P; Center for Networked Biomedical Research in Neurodegenerative Diseases (CIBERNED), Carlos III Institute of Health, Madrid, Spain.; Artusi CA; Department of Neurosciences Rita Levi Montalcini, University of Turin, Turin, Italy.; SC Neurologia 2U, AOU Città Della Salute E Della Scienza, Turin, Italy.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

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