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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Lassuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sánchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Céline; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J; Müller-Felber, Wolfgang; Vill, Katharina.
Affiliation
  • Lischka A; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
  • Eggermann K; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
  • Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Dohrn MF; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.
  • Lassuthová P; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
  • Kraft F; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.
  • Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
  • Dey D; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
  • Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
  • Beijer D; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
  • Soukalová J; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
  • Laura M; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czechia.
  • Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Mazanec R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Van Lent J; Department of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia.
  • Tomaselli PJ; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.
  • Ungelenk M; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.
  • Debus KY; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.
  • Feely SME; Center for Molecular Biomedicine Institute for Biophysics, Friedrich-Schiller Universität Jena, 07745 Jena, Germany.
  • Gläser D; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Jagadeesh S; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA 98105, USA.
  • Martin M; Center for Human Genetics, Genetikum®, 89231 Neu-Ulm, Germany.
  • Govindaraj GM; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
  • Singhi P; Davis and Davis Children's Hospital, University of California, Sacramento, CA 95817, USA.
  • Baineni R; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.
  • Biswal N; Pediatric Neurology and Neurodevelopment, Medanta, The Medicity, Gurgaon, Haryana 122 001, India.
  • Ibarra-Ramírez M; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.
  • Bonduelle M; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.
  • Gess B; Genetics Department, Hospital Universitario Dr. José Eleuterio González Universidad Autónoma de Nuevo León, 64460 Monterrey, Nuevo León, México.
  • Romero Sánchez J; Centre for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Jette, Brussels, Belgium.
  • Suthar R; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.
  • Udani V; Department of Neurology, University Hospital, Evangelisches Klinikum Bethel, University of Bielefeld, 33617 Bielefeld, Germany.
  • Nalini A; Pediatría, Clínica Premium, 29601 Marbella, Spain.
  • Unnikrishnan G; Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160 012, India.
  • Marques W; Department of Child Neurology, PD Hinduja Hospital and Medical Research Centre, Mumbai, Maharashtra 400 016, India.
  • Mercier S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.
  • Procaccio V; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.
  • Bris C; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.
  • Suresh B; CHU Nantes, Service de Génétique Médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000 Nantes, France.
  • Reddy V; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.
  • Skorupinska M; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.
  • Bonello-Palot N; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
  • Mochel F; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
  • Dahl G; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Sasidharan K; INSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France.
  • Devassikutty FM; Genetics Department, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, 75013 Paris, France.
  • Nampoothiri S; Pediatric Neurology, Children's Hospital of the King's Daughters in Norfolk, Norfolk, VA 23507, USA.
  • Rodovalho Doriqui MJ; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.
  • Müller-Felber W; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.
  • Vill K; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682 041, India.
Brain ; 146(12): 4880-4890, 2023 12 01.
Article in En | MEDLINE | ID: mdl-37769650
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Full text: 1 Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Pain Insensitivity, Congenital Type of study: Prognostic_studies Limits: Humans Language: En Journal: Brain Year: 2023 Type: Article Affiliation country: Germany
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Full text: 1 Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Pain Insensitivity, Congenital Type of study: Prognostic_studies Limits: Humans Language: En Journal: Brain Year: 2023 Type: Article Affiliation country: Germany