Comparative analysis of antigen-presenting cells in gingival tissues in healthy and periodontitis patients.

Autor: Pejcic A; Periodontology and Oral Medicine, University of Niš, Medical Faculty, Nis, Serbia dranapejcic@hotmail.com., Andjelkovic Z; Institute of Histology and Embriology, University of Pristina, Medical Faculty, Kosovska Mitrovica, Serbia., Marjanovic D; Periodontology and Oral Medicine, University of Pristina, Dental Clinic, Kosovska Mitrovica, Serbia., Minic I; Periodontology and Oral Medicine, University of Niš, Medical Faculty, Nis, Serbia., Matvijenko V; Restorative Dentistry, University of Pristina, Dental Clinic, Kosovska Mitrovica, Serbia., Arsic Z; Restorative Dentistry, University of Pristina, Dental Clinic, Kosovska Mitrovica, Serbia., Jovanovic R; Dental Clinic, University of Pristina, Medical Faculty, Kosovska Mitrovica, Serbia., Subaric L; Dental Clinic, University of Pristina, Medical Faculty, Kosovska Mitrovica, Serbia.

Publikováno v: Journal of clinical pathology [J Clin Pathol] 2024 Sep 19; Vol. 77 (10), pp. 702-708. Date of Electronic Publication: 2024 Sep 19.

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Autor: Cetica V; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Pisano T; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Lesca G; Université Lyon 1, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie et Génétique du Neurone et du Muscle, Institut NeuroMyoGène, Lyon, France.; Department of Genetics, University Hospitals of Lyon, Hospices Civils de Lyon, Lyon, France., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Licchetta L; Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Istituto delle Scienze Neurologiche di Bologna, full member of the European Reference Network EpiCARE, Bologna, Italy., Riccardi F; Aix-Marseille University, Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille Medical Genetics, Marseille, France.; Centre Hospitalier Intercommunal Toulon - La Seyne sur Mer (CHITS), Hôpital Ste Musse, Service de Génétique Médicale, Toulon, France., Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Chung HB; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing (LKS) Faculty of Medicine, University of Hong Kong, Hong Kong, China., Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Balasubramanian M; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's National Health Service (NHS) Foundation Trust, Sheffield, UK., Lowenstein DH; Department of Neurology, University of California, San Francisco, California, USA., Endzinienė M; Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania., Alotaibi M; King Saud Medical City, Riyadh, Saudi Arabia., Villeneuve N; Depatment of Pediatric Neurology, Assistance Publique-Hopitaux de Marseille (AP-HM), Hôpital de la Timone Enfants, Marseille, France., Jacobs J; Alberta Children's Research Institute, Hodgekiss Brain Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Université de Nantes, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), l'Institut du Thorax, Centre Hospitalier Universitaire de Nantes, Nantes, France., Solazzi R; Department of Pediatric Neuroscience, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Marjanovic D; Holbæk Hospital Medical Department, Holbæk, Denmark., Rougeot-Jung C; Department of Pediatric Neurology, University Hospital of Lyon, Lyon, France., Jung J; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon, Université de Lyon, Lyon, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, University Paris Cité, Paris, France., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Saadi NW; College of Medicine, University of Baghdad, Baghdad, Iraq.; Children Welfare Teaching Hospital, Baghdad, Iraq., Panagiotakaki E; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon, Université de Lyon, Lyon, France., Foiadelli T; Clinica Pediatrica, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico San Matteo, Pavia, Italy.; Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy., Redon S; Service de Génétique Médicale, Centre Hospitalier et Universitaire de Brest, Brest, France.; Université de Brest, Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang, UMR 1078, Brest, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Brest, France., Tsai MH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.; School of Medicine, Chang Gung University, Kaohsiung, Taiwan., Bisulli F; Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Istituto delle Scienze Neurologiche di Bologna, full member of the European Reference Network EpiCARE, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Parrini E; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; University of Florence, Florence, Italy.

Publikováno v: Epilepsia [Epilepsia] 2024 May; Vol. 65 (5), pp. 1439-1450. Date of Electronic Publication: 2024 Mar 16.

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IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.

Autor: Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Clinical Neurophysiology, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; European Reference Network for Rare and Complex epilepsies (ERN) EpiCARE, University Hospitals of Lyon, Lyon, France., Michelucci R; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy., Christensen HM; Department of Neurology, Rigshospitalet, Copenhagen, Denmark., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Reale C; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Child Neuropsychiatry Unit, Department of Surgical Sciences, Dentistry, Gynecology, and Pediatrics, University of Verona, Verona, Italy., Riguzzi P; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy., Pasini E; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy., Albini-Riccioli L; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neuroradiology, Bellaria Hospital, Bologna, Italy., Papa V; DIBINEM, University of Bologna, Bologna, Italy., Foschini MP; Unit of Pathological Anatomy, University of Bologna, Bellaria Hospital, Bologna, Italy., Cenacchi G; DIBINEM, University of Bologna, Bologna, Italy.; Unit of Pathological Anatomy, IRCCS Azienda Ospedaliera Universitaria S.Orsola-Malpighi, Bologna, Italy., Furia F; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Marjanovic D; Department of Neurology, Danish Epilepsy Center, Dianalund, Denmark., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Genetics, Rigshospitalet, Copenhagen, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; European Reference Network for Rare and Complex epilepsies (ERN) EpiCARE, University Hospitals of Lyon, Lyon, France., Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; European Reference Network for Rare and Complex epilepsies (ERN) EpiCARE, University Hospitals of Lyon, Lyon, France.; Department of Neurology, Danish Epilepsy Center, Dianalund, Denmark.; University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Epilepsia [Epilepsia] 2023 Aug; Vol. 64 (8), pp. e170-e176. Date of Electronic Publication: 2023 Jun 08.

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