Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Autor: Alstrup M; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: MOCHHA@rm.dk., Cesca F; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy. Electronic address: fcesca@units.it., Krawczun-Rygmaczewska A; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy., López-Menéndez C; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain., Pose-Utrilla J; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain., Castberg FC; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark., Bjerager MO; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark., Finnila C; Hudson Alpha Institute for Biotechnology, Huntsville, AL., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Manwaring L; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO., Keren B; Département de génétique, AP-HP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Afenjar A; APHP. Sorbonne Université, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, UF de génétique clinique, Hôpital Trousseau, Paris, France., Galatolo D; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Scalise R; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Santorelli FM; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati, Cincinnati, OH., Vezain M; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France., Martinovic J; Department of Fetal Pathology, AP-HP Antoine Beclere Hospital, University Paris Saclay, Clamart, France., Stevens C; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN., Gowda VK; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India., Thiffault I; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO; University of Missouri Kansas City School of Medicine, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., Pastinen T; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO; University of Missouri Kansas City School of Medicine, Kansas City, MO., Baranano K; Johns Hopkins University, The Johns Hopkins Hospital, Baltimore, MD., Lee A; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO., Granadillo J; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO., Glassford MR; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Keegan CE; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI., Matthews N; WVU Medicine Children's Hospital, Division of Genetics, Morgantown, WV., Saugier-Veber P; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France; CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Iglesias T; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain. Electronic address: tiglesias@iib.uam.es., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov; Vol. 26 (11), pp. 101219. Date of Electronic Publication: 2024 Jul 18.

Acquisition and decay of IgM and IgG responses to merozoite antigens after Plasmodium falciparum malaria in Ghanaian children.

Autor: Walker MR; Department of Immunology and Microbiology, Centre for Medical Parasitology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Knudsen AS; Department of Immunology and Microbiology, Centre for Medical Parasitology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Partey FD; Noguchi Memorial Institute for Medical Research, University of Ghana, Legon, Ghana., Bassi MR; Department of Immunology and Microbiology, Centre for Medical Parasitology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Frank AM; Department of Immunology and Microbiology, Centre for Medical Parasitology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Castberg FC; Department of Clinical Microbiology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark., Sarbah EW; Noguchi Memorial Institute for Medical Research, University of Ghana, Legon, Ghana., Ofori MF; Noguchi Memorial Institute for Medical Research, University of Ghana, Legon, Ghana., Hviid L; Department of Immunology and Microbiology, Centre for Medical Parasitology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Barfod L; Department of Immunology and Microbiology, Centre for Medical Parasitology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: PloS one [PLoS One] 2020 Dec 17; Vol. 15 (12), pp. e0243943. Date of Electronic Publication: 2020 Dec 17 (Print Publication: 2020).

Malaria causes long-term effects on markers of iron status in children: a critical assessment of existing clinical and epidemiological tools.

Autor: Castberg FC; Centre for Medical Parasitology, Department of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Centre for Medical Parasitology, Department of Clinical Microbiology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark., Sarbah EW; Noguchi Memorial Institute for Medical Research, Accra, Ghana., Koram KA; Noguchi Memorial Institute for Medical Research, Accra, Ghana., Opoku N; Hohoe Municipality Hospital, Hohoe, Ghana.; School of Public Health, University of Health and Allied Sciences, Ho, Ghana., Ofori MF; Noguchi Memorial Institute for Medical Research, Accra, Ghana., Styrishave B; Toxicology and Drug Metabolism Group, Department of Pharmacy, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Hviid L; Centre for Medical Parasitology, Department of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Centre for Medical Parasitology, Department of Infectious Diseases, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark., Kurtzhals JAL; Centre for Medical Parasitology, Department of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. joku@sund.ku.dk.; Centre for Medical Parasitology, Department of Clinical Microbiology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark. joku@sund.ku.dk.

Publikováno v: Malaria journal [Malar J] 2018 Dec 11; Vol. 17 (1), pp. 464. Date of Electronic Publication: 2018 Dec 11.

Kinetics of antibody responses to PfRH5-complex antigens in Ghanaian children with Plasmodium falciparum malaria.

Autor: Partey FD; Noguchi Memorial Institute for Medical Research, University of Ghana, Legon, Ghana.; Centre for Medical Parasitology at Department of Immunology and Microbiology (ISIM), Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Infectious Diseases Copenhagen, University Hospital (Rigshospitalet), Copenhagen, Denmark., Castberg FC; Department of Clinical Microbiology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark., Sarbah EW; Noguchi Memorial Institute for Medical Research, University of Ghana, Legon, Ghana., Silk SE; The Jenner Institute, University of Oxford, Oxford, United Kingdom., Awandare GA; Noguchi Memorial Institute for Medical Research, University of Ghana, Legon, Ghana.; West Africa Centre for Medical Biology of Infectious Pathogens, Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Legon, Ghana., Draper SJ; The Jenner Institute, University of Oxford, Oxford, United Kingdom., Opoku N; Hohoe Municipal Hospital, Hohoe, Ghana., Kweku M; Hohoe Municipal Hospital, Hohoe, Ghana., Ofori MF; Noguchi Memorial Institute for Medical Research, University of Ghana, Legon, Ghana., Hviid L; Centre for Medical Parasitology at Department of Immunology and Microbiology (ISIM), Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Infectious Diseases Copenhagen, University Hospital (Rigshospitalet), Copenhagen, Denmark., Barfod L; West Africa Centre for Medical Biology of Infectious Pathogens, Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Legon, Ghana.

Publikováno v: PloS one [PLoS One] 2018 Jun 08; Vol. 13 (6), pp. e0198371. Date of Electronic Publication: 2018 Jun 08 (Print Publication: 2018).

Increased Plasmodium chabaudi malaria mortality in mice with nutritional iron deficiency can be reduced by short-term adjunctive iron supplementation.

Autor: Castberg FC; Centre for Medical Parasitology, Department of Clinical Microbiology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark.; Centre for Medical Parasitology, Department of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Maretty L; Centre for Medical Parasitology, Department of Clinical Microbiology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark., Staalsoe T; Centre for Medical Parasitology, Department of Clinical Microbiology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark., Hempel C; Centre for Medical Parasitology, Department of Clinical Microbiology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark.; Department of Micro- and Nanotechnology, Technical University of Denmark, Lyngby, Denmark., Clasen-Linde E; Department of Pathology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark., Hviid L; Centre for Medical Parasitology, Department of Infectious Diseases, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark.; Centre for Medical Parasitology, Department of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Kurtzhals JAL; Centre for Medical Parasitology, Department of Clinical Microbiology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark. joku@sund.ku.dk.; Centre for Medical Parasitology, Department of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. joku@sund.ku.dk.

Publikováno v: Malaria journal [Malar J] 2018 Jan 16; Vol. 17 (1), pp. 34. Date of Electronic Publication: 2018 Jan 16.