Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset.

Autor: Huggett SB; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Tebbenkamp ATN; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Rinaldi C; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Jayaseelan D; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Zampedri L; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Blasi L; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Fortuna A; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Alqahtani A; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Kokkinis A; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Dahlqvist J; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Fenu S; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Cavalca E; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Bertini A; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Mariotti C; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Grunseich C; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Kawase T; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Kishimoto Y; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Yamada S; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Katsuno M; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Fratta P; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Conte A; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Sabatelli M; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Soraru G; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Vissing J; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Kang M; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Park JS; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Pareyson D; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea., Viglietta V; From the Nido Biosciences (S.B.H., A.T.N.T., V.V.), Inc., Boston, MA; Institute of Developmental and Regenerative Medicine (IDRM) (C.R.), University of Oxford; Department of Neuromuscular Diseases (D.J., L.Z., P.F.), University College of London, United Kingdom; Department of Neurosciences (L.B., A.F., G.S.), Neuromuscular Center, University of Padova, Italy; Neurogenetics Branch (A.A., A.K., C.G.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Copenhagen Neuromuscular Center (J.D., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Fondazione IRCSS (S.F., E.C., A.B., C.M., D.P.), Istituto Neurologico Carlo Besta Milano, Italy; Department of Neurology (T.K., Y.K., S.Y.), Nagoya University Graduate School of Medicine; Department of Neurology and Department of Clinical Research Education (M. Katsuno), Nagoya University Graduate School of Medicine, Japan; Centro Clinico Nemo Adulti-Fondazione Serena onlus (A.C.), Policlinico Universitario Agostino Gemelli IRCCS; Centro Clinico Nemo Adulti-Fondazione Serena onlus (M.S.), Policlinico Universitario Agostino Gemelli IRCCS, Section of Neurology, Department of Neuroscience, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy; and Department of Neurology (M. Kang, J.-S.P.), School of Medicine, Kyungpook National University, Chilgok Hospital, Daegu, Korea.

Publikováno v: Neurology [Neurology] 2024 Dec 24; Vol. 103 (12), pp. e210088. Date of Electronic Publication: 2024 Nov 26.

Hypokalemic periodic paralysis: a 3-year follow-up study.

Autor: Holm-Yildiz S; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark. Sonja.desiree.holm-yildiz@regionh.dk., Krag T; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Witting N; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Pedersen BS; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Dysgaard T; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Sloth L; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Pedersen J; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Kjær R; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Kannuberg L; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Dahlqvist J; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., de Stricker Borch J; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Solheim T; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Fornander F; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Eisum AS; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark.

Publikováno v: Journal of neurology [J Neurol] 2023 Dec; Vol. 270 (12), pp. 6057-6063. Date of Electronic Publication: 2023 Sep 01.

Complement activation prior to symptom onset in myeloperoxidase ANCA-associated vasculitis but not proteinase 3 ANCA associated vasculitis - A Swedish biobank study.

Autor: Johansson, L, Berglin, E, Eriksson, O, Mohammad, AJ, Dahlqvist, J, Rantapää-Dahlqvist, S

Publikováno v: Scandinavian Journal of Rheumatology; May2022, Vol. 51 Issue 3, p214-219, 6p

Targeted next-generation sequencing suggests novel risk loci in juvenile onset systemic lupus erythematosus

Autor: Sandling, JK., Rosenberg, L. Hultin, Farias, FHG., Alexsson, A., Leonard, D., Kozyrev, S., Murén, E., Karlsson, Å., Mathioudaki, A., Pucholt, P., Eriksson, D., Pielberg, G., Meadows, J., Nordin, J., Dahlqvist, J., Bianchi, M., Jonsson, R., Omdal, R., Lerang, K., Molberg, Ø., Lie, BA., Massarenti, L., Jacobsen, S., Voss, A., Jakobsen, MA., Lillevang, ST., Troldborg, AM., Steffensen, Rudi, Bengtsson, C., Jönsen, A., Padyukov, L., Eloranta, M-L., Sjöwall, C., Gunnarsson, I., Svenungsson, E., Rantapää-Dahlqvist, S., Bengtsson, AA., Syvänen, A-C., Lindblad-Toh, K., Rönnblom, L.

Publikováno v: Sandling, JK, Rosenberg, L H, Farias, FHG, Alexsson, A, Leonard, D, Kozyrev, S, Murén, E, Karlsson, Å, Mathioudaki, A, Pucholt, P, Eriksson, D, Pielberg, G, Meadows, J, Nordin, J, Dahlqvist, J, Bianchi, M, The ImmunoArray Development Consortium, Jonsson, R, Omdal, R, Lerang, K, Molberg, Ø, Lie, BA, Massarenti, L, Jacobsen, S, Voss, A, Jakobsen, MA, Lillevang, ST, Troldborg, AM, Steffensen, R, Bengtsson, C, Jönsen, A, Padyukov, L, Eloranta, M-L, Sjöwall, C, Gunnarsson, I, Svenungsson, E, Rantapää-Dahlqvist, S, Bengtsson, AA, Syvänen, A-C, Lindblad-Toh, K, Rönnblom, L & The DISSECT Consortium 2019, ' Targeted next-generation sequencing suggests novel risk loci in juvenile onset systemic lupus erythematosus ', 52nd European Society of Human Genetics Conference (ESHG), Gøteborg, Sweden, 15/06/2019-18/06/2019 .
Sandling, JK, Rosenberg, L H, Farias, FHG, Alexsson, A, Leonard, D, Kozyrev, S, Murén, E, Karlsson, Å, Mathioudaki, A, Pucholt, P, Eriksson, D, Pielberg, G, Meadows, J, Nordin, J, Dahlqvist, J, Bianchi, M, The ImmunoArray Development Consortium, Jonsson, R, Omdal, R, Lerang, K, Molberg, Ø, Lie, BA, Massarenti, L, Jacobsen, S, Voss, A, Jakobsen, MA, Lillevang, ST, Troldborg, AM, Steffensen, R, Bengtsson, C, Jönsen, A, Padyukov, L, Eloranta, M-L, Sjöwall, C, Gunnarsson, I, Svenungsson, E, Rantapää-Dahlqvist, S, Bengtsson, AA, Syvänen, A-C, Lindblad-Toh, K, Rönnblom, L & The DISSECT Consortium 2019, ' Targeted next-generation sequencing suggests novel risk loci in juvenile onset systemic lupus erythematosus ', European Journal of Human Genetics, vol. 27, no. Suppl. 2, P07.28D, pp. 1372 . < https://www.nature.com/articles/s41431-019-0494-2 >

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1b4f875fb46c4729b20b6e96782d92b2
https://vbn.aau.dk/da/publications/7188acd0-e0af-4455-bd84-5fd9ff0b8717

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.

Autor: Giacomucci, G., Monforte, M., Diaz‐Manera, J., Mul, K., Fernandez Torrón, R., Maggi, L., Marini Bettolo, C., Dahlqvist, J. R., Haberlova, J., Camaño, P., Gros, M., Tartaglione, T., Cristiano, L., Gerevini, S., Calandra, P., Deidda, G., Giardina, E., Sacconi, S., Straub, V., Vissing, J.

Publikováno v: European Journal of Neurology; Dec2020, Vol. 27 Issue 12, p2604-2615, 12p