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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Autor: Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany., Lau T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Sultan T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Sedighzadeh S; Department of Biological Sciences, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; KaryoGen, Isfahan, Iran., Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., AlShamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE., Ibrahim S; Department of pediatrics and child Health, Aga Khan University, Karachi, Pakistan., Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia., Al-Hertani W; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA., Sandra W; APHP UF de Génétique Clinique, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, APHP, Hôpital Armand Trousseau, ERN ITHACA, Sorbonne Université, Paris, France., Tarnopolsky M; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada., Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Li C; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada., Day-Salvatore DL; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA., Martínez-González MJ; Pediatric Neurology Unit, Cruces University Hospital, Barakaldo, Vizcaya, Spain., Levandoski KM; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA., Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Madan-Khetarpal S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Idleburg MJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Menezes MJ; Department of Anaesthesia, the Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia., Siddharth A; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Smitka M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany., Collins F; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia., Lek M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA., Shahrooei M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Ghavideldarestani M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neuroscience, Boys Town National Research Hospital, Boys Town, NE, USA., Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France., Faure J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France., Baker J; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA., Bhambhani V; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA., Calderwood L; Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA., Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Mirzadeh HS; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Safi M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Innovative medical research centre, Mashhad branch, Islamic Azad University, Mashhad, Iran., Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Abedini S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Salpietro V; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Gulec EY; Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, Turkey., Eshaghian S; Isfahan Fertility and Infertility Center, Isfahan, Iran., Ghazavi M; Department of Pediatric Neurology, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran., Pascher MT; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany., Vogel M; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Deutsches Krebsforschungszentrum, Heidelberg, Germany., Abicht A; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Medizinisch Genetisches Zentrum, Munich, German., Moutton S; Multidisciplinary Center for Prenatal Diagnosis, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France., Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), INSERM UMR1231, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, Dijon, France., Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland., Gallati S; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland., Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada., Mohammadi MH; Department of pediatrics, Zabol University of medical sciences, Zabol, Iran., Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Berger SI; Children's National Research Institute, Washington DC, USA., Andrew EH; Children's National Research Institute, Washington DC, USA., Rahimian E; Haghighat Medical Imaging center-Tehran, Tehran, Iran., Morrow MM; GeneDx, Gaithersburg, MD, USA., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Henderson LB; GeneDx, Gaithersburg, MD, USA., Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max-Planck-Institute for Biology of Ageing and CECAD, Cologne, Germany.; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK., Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK., Gomez-Ospina N; Department of Pediatrics, Stanford University, Stanford, CA, USA., McRae A; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Peter M; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Ashrafzadeh F; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Melki J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, Paris, France., Benezit A; Neurologie et réanimation pédiatrique, Hôpital Raymond Poincaré, APHP, Garches, France., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Weis D; Department of Medical Genetics, Kepler University Hospital, Johann Kepler University, Linz, Austria., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany., Christodoulou J; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics and Medicine, Columbia University New York, NY, USA., Goodchild R; KU Leuven Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium.; VIB-KU Leuven Center for Brain and Disease Research, Laboratory for Dystonia Research, Leuven, Belgium., Offiah AC; Department of Oncology & Metabolism, University of Sheffield, UK., Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Diagnostic Medicine Institute, Geisinger, Danville, PA, USA., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, MA, USA., Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Aug 01; Vol. 146 (8), pp. 3273-3288.

Evaluation, Validation, and Recognition of the Point-of-Care Circulating Cathodic Antigen, Urine-Based Assay for Mapping Schistosoma mansoni Infections.

Autor: Colley DG; 1Schistosomiasis Consortium for Operational Research and Evaluation (SCORE), Center for Tropical and Emerging Global Diseases, University of Georgia, Athens, Georgia.; 2Department of Microbiology, University of Georgia, Athens, Georgia., King CH; 3Center for Global Health and Diseases, Case Western Reserve University, Cleveland, Ohio., Kittur N; 1Schistosomiasis Consortium for Operational Research and Evaluation (SCORE), Center for Tropical and Emerging Global Diseases, University of Georgia, Athens, Georgia., Ramzy RMR; 4National Nutrition Institute, General Organization for Teaching Hospitals and Institutes, Cairo, Egypt., Secor WE; 5Division of Parasitic Diseases and Malaria, Centers for Disease Control and Prevention, Atlanta, Georgia., Fredericks-James M; 6Ministry of Health and Wellness, Castries, St. Lucia., Ortu G; 7Santé Publique France, Paris, France., Clements MN; 8Schistosomiasis Control Initiative, London, United Kingdom.; 9Medical Research Council, Clinical Research Trials Unit, University College London, London, United Kingdom., Ruberanziza E; 10Malaria and Other Parasitic Diseases Division, Neglected Tropical Diseases and Other Parasitic Diseases Unit, Rwanda Biomedical Center, Ministry of Health, Kigali, Rwanda., Umulisa I; 10Malaria and Other Parasitic Diseases Division, Neglected Tropical Diseases and Other Parasitic Diseases Unit, Rwanda Biomedical Center, Ministry of Health, Kigali, Rwanda.; 11African Leaders Malaria Alliance, Dar-es-Salam, Tanzania., Wittmann U; 8Schistosomiasis Control Initiative, London, United Kingdom.; 12Consult AG Statistical Services, Zurich, Switzerland., Campbell CH; 1Schistosomiasis Consortium for Operational Research and Evaluation (SCORE), Center for Tropical and Emerging Global Diseases, University of Georgia, Athens, Georgia.

Publikováno v: The American journal of tropical medicine and hygiene [Am J Trop Med Hyg] 2020 Jul; Vol. 103 (1_Suppl), pp. 42-49.

Therapeutic potential of targeting microRNA-10b in established intracranial glioblastoma: first steps toward the clinic.

Autor: Teplyuk NM; Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Uhlmann EJ; Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Gabriely G; Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Volfovsky N; Simons Foundation, New York, NY, USA., Wang Y; Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Teng J; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Karmali P; Regulus Therapeutics Inc., San Diego, CA, USA., Marcusson E; Regulus Therapeutics Inc., San Diego, CA, USA., Peter M; Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Mohan A; Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Kraytsberg Y; Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Cialic R; Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Chiocca EA; Department of Neurosurgery, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Godlewski J; Department of Neurosurgery, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA., Tannous B; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Krichevsky AM; Department of Neurology, Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA akrichevsky@rics.bwh.harvard.edu.

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2016 Mar 01; Vol. 8 (3), pp. 268-87.