Zobrazeno 1 - 10
of 176
pro vyhledávání: '"Sampaio ML"'
Autor:
Bjerregaard-Andersen M; Department of Endocrinology and Nephrology, University Hospital of Southern Denmark, Finsensgade 35, 6700, Esbjerg, Denmark. Morten.Bjerregaard-Andersen2@rsyd.dk.; Steno Diabetes Center Odense, Odense University Hospital, Odense, Denmark. Morten.Bjerregaard-Andersen2@rsyd.dk.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark. Morten.Bjerregaard-Andersen2@rsyd.dk., Da Silva J; Institute for Interdisciplinary Research, Doctoral Program in Experimental Biology and Biomedicine (PDBEB), University of Coimbra, Coimbra, Portugal.; CNC-UC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, 3004-504, Portugal.; CIBB - Centre for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, 3004-504, Portugal., Diogo R; Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra (CHUC) E.P.E., Coimbra, Portugal., Claro AR; Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHLN) E.P.E., Lisbon, Portugal., Ferro I; Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHLN) E.P.E., Lisbon, Portugal., Romana A; Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHLN) E.P.E., Lisbon, Portugal., Rocha P; Centro Hospitalar de Leiria E.P.E., Leiria, Portugal., Sá B; Centro Hospitalar de Leiria E.P.E., Leiria, Portugal., Lobarinhas G; Hospital Santa Maria Maior E.P.E., Barcelos, Portugal., Rolim S; Hospital Santa Maria Maior E.P.E., Barcelos, Portugal., Juhl CB; Department of Endocrinology and Nephrology, University Hospital of Southern Denmark, Finsensgade 35, 6700, Esbjerg, Denmark.; Steno Diabetes Center Odense, Odense University Hospital, Odense, Denmark., Højlund K; Steno Diabetes Center Odense, Odense University Hospital, Odense, Denmark., Fernandes I; Hospital Espírito Santo E.P.E., Evora, Portugal., Antunes S; Hospital Espírito Santo E.P.E., Evora, Portugal., Félix Calha MM; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Gama G; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Amálio S; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Figueiras M; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Silva T; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Rosado M; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Ferrão E; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Arez L; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Baptista A; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Martins Ferreira A; Centro Hospitalar do Tâmega e Sousa E.P.E., Guilhufe, Portugal., Alba D; Centro Hospitalar do Tâmega e Sousa E.P.E., Guilhufe, Portugal., Godinho C; Centro Hospitalar Universitário do Algarve (CHUA) E.P.E., Faro, Portugal., Leite AL; Centro Hospitalar de Vila Nova de Gaia/Espinho (CHVNG/E) E.P.E., Vila Nova de Gaia, Portugal., Afonso Lopes ML; Unidade de Endocrinologia Pediátrica, Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central (CHULC) E.P.E., Lisbon, Portugal., Sampaio ML; Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHLN) E.P.E., Lisbon, Portugal., Serra-Caetano J; Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra (CHUC) E.P.E., Coimbra, Portugal., Carvalho E; CNC-UC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, 3004-504, Portugal.; CIBB - Centre for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, 3004-504, Portugal.; Institute for Interdisciplinary Research (IIIUC), University of Coimbra, Casa Costa Alemão, Coimbra, 3030- 789, Portugal.
Publikováno v:
BMC endocrine disorders [BMC Endocr Disord] 2024 Aug 09; Vol. 24 (1), pp. 145. Date of Electronic Publication: 2024 Aug 09.
Autor:
Henriques AR; Unidade de Endocrinologia Pediátrica. Serviço de Pediatria Médica. Departamento de Pediatria. Hospital de Santa Maria. Unidade Local de Saúde de Santa Maria. Lisboa. Portugal., M Lopes M; Unidade de Endocrinologia Pediátrica. Serviço de Pediatria Médica. Departamento de Pediatria. Hospital de Santa Maria. Unidade Local de Saúde de Santa Maria. Lisboa. Portugal., Robalo B; Unidade de Endocrinologia Pediátrica. Serviço de Pediatria Médica. Departamento de Pediatria. Hospital de Santa Maria. Unidade Local de Saúde de Santa Maria. Lisboa. Portugal., Pereira C; Unidade de Endocrinologia Pediátrica. Serviço de Pediatria Médica. Departamento de Pediatria. Hospital de Santa Maria. Unidade Local de Saúde de Santa Maria. Lisboa. Portugal., Sampaio ML; Unidade de Endocrinologia Pediátrica. Serviço de Pediatria Médica. Departamento de Pediatria. Hospital de Santa Maria. Unidade Local de Saúde de Santa Maria. Lisboa. Portugal.
Publikováno v:
Acta medica portuguesa [Acta Med Port] 2024 Jul 01; Vol. 37 (7-8), pp. 577-578. Date of Electronic Publication: 2024 Jul 01.
Autor:
Flores DV; From the Department of Radiology, Radiation Oncology, and Medical Physics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada; Department of Medical Imaging, The Ottawa Hospital, 501 Smyth Rd, Ottawa, ON, Canada K1H 8L6; and the Ottawa Hospital Research Institute, Ottawa, Ontario, Canada., Foster RCB; From the Department of Radiology, Radiation Oncology, and Medical Physics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada; Department of Medical Imaging, The Ottawa Hospital, 501 Smyth Rd, Ottawa, ON, Canada K1H 8L6; and the Ottawa Hospital Research Institute, Ottawa, Ontario, Canada., Sampaio ML; From the Department of Radiology, Radiation Oncology, and Medical Physics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada; Department of Medical Imaging, The Ottawa Hospital, 501 Smyth Rd, Ottawa, ON, Canada K1H 8L6; and the Ottawa Hospital Research Institute, Ottawa, Ontario, Canada., Rakhra KS; From the Department of Radiology, Radiation Oncology, and Medical Physics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada; Department of Medical Imaging, The Ottawa Hospital, 501 Smyth Rd, Ottawa, ON, Canada K1H 8L6; and the Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
Publikováno v:
Radiographics : a review publication of the Radiological Society of North America, Inc [Radiographics] 2024 Feb; Vol. 44 (2), pp. e230144.
Autor:
Flores DV; Department of Radiology, Radiation Oncology and Medical Physics, Faculty of Medicine, University of Ottawa, ON, Ottawa, Canada. dflores@toh.ca.; Department of Medical Imaging, The Ottawa Hospital, 501 Smyth Road, Ottawa, ON, K1H 8L6, Canada. dflores@toh.ca.; Ottawa Hospital Research Institute, ON, Ottawa, Canada. dflores@toh.ca., Sampaio ML; Department of Radiology, Radiation Oncology and Medical Physics, Faculty of Medicine, University of Ottawa, ON, Ottawa, Canada.; Department of Medical Imaging, The Ottawa Hospital, 501 Smyth Road, Ottawa, ON, K1H 8L6, Canada.; Ottawa Hospital Research Institute, ON, Ottawa, Canada., Agarwal A; Department of Radiodiagnosis, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Publikováno v:
Skeletal radiology [Skeletal Radiol] 2024 Feb; Vol. 53 (2), pp. 195-208. Date of Electronic Publication: 2023 Jun 24.
Autor:
Smith IC; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada., Chakraborty S; Faculty of Science, University of Ottawa, Ottawa, ON K1N 9B4, Canada., Bourque PR; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Department of Medicine, The Ottawa Hospital/University of Ottawa, Ottawa, ON K1H 8L6, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada., Sampaio ML; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Department of Medical Imaging, The Ottawa Hospital, Ottawa, Ontario K1Y 4E9, Canada; Department of Radiology, Radiation Oncology and Medical Physics, University of Ottawa, Ottawa, ON K1H 8L6, Canada., Melkus G; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Department of Medical Imaging, The Ottawa Hospital, Ottawa, Ontario K1Y 4E9, Canada; Department of Physics, Carleton University, Ottawa, ON K1S 5B6, Canada., Lochmüller H; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Department of Medicine, The Ottawa Hospital/University of Ottawa, Ottawa, ON K1H 8L6, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Woulfe J; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Department of Pathology and Laboratory Medicine, The Ottawa Hospital, Ottawa, ON K1Y 4E9, Canada., Parks RJ; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada; Department of Medicine, The Ottawa Hospital/University of Ottawa, Ottawa, ON K1H 8L6, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada., Brais B; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec H3A 2B4, Canada., Warman-Chardon J; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Department of Medicine, The Ottawa Hospital/University of Ottawa, Ottawa, ON K1H 8L6, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec H3A 2B4, Canada. Electronic address: jwarman@toh.ca.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 824-834. Date of Electronic Publication: 2023 Oct 06.
Autor:
Warman-Chardon J; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Hartley T; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Marshall AE; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., McBride A; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Couse M; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Macdonald W; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Mann MRW; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Bourque PR; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Breiner A; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Lochmüller H; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Woulfe J; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Sampaio ML; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Melkus G; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Brais B; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Dyment DA; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Boycott KM; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada., Kernohan K; From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M., M.R.W.M.), Gynaecology and Reproductive Sciences, University of Pittsburgh School of Medicine; Magee-Womens Research Institute (W.M., M.R.W.M.), Pittsburgh, PA; Department of Pathology and Laboratory Medicine (A.B., J.W.), The Ottawa Hospital; Department of Radiology (M.L.S., G.M.), Radiation Oncology and Medical Physics, University of Ottawa; Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University; and Newborn Screening Ontario (K.K.), Children's Hospital of Eastern Ontario, Ottawa, Canada.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2023 Sep 19; Vol. 9 (5), pp. e200088. Date of Electronic Publication: 2023 Sep 19 (Print Publication: 2023).
Autor:
Todo Bom Costa S; Pediatric Service, Department of Pediatric, Hospital Santa Maria, Centro Hospitalar Universitario Lisboa Norte, Lisbon, Portugal., Tapadinhas C; Pediatric Dermatology Unit, Department of Dermatology, Hospital Santa Maria, Centro Hospitalar Universitario Lisboa Norte, Lisbon, Portugal., Sampaio ML; Pediatric Service, Department of Pediatric, Hospital Santa Maria, Centro Hospitalar Universitario Lisboa Norte, Lisbon, Portugal.
Publikováno v:
European annals of allergy and clinical immunology [Eur Ann Allergy Clin Immunol] 2023 Sep; Vol. 55 (5), pp. 246-249. Date of Electronic Publication: 2022 Jan 26.
Autor:
Pontes MDS; Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Avenue, 3900, 11 Floor - Vila Monte Alegre - CEP 14048-900, Ribeirão Preto, SP, Brazil. marianadpontes@gmail.com., Soeira TP; Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Avenue, 3900, 11 Floor - Vila Monte Alegre - CEP 14048-900, Ribeirão Preto, SP, Brazil., Sampaio ML; University of Ribeirão Preto, Ribeirão Preto, SP, Brazil., Pratali RR; Hospital Do Servidor Público Estadual, São Paulo, SP, Brazil., Pompeu Y; Hospital for Special Surgery, New York, NY, USA., Herrero CFPDS; Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Avenue, 3900, 11 Floor - Vila Monte Alegre - CEP 14048-900, Ribeirão Preto, SP, Brazil.
Publikováno v:
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society [Eur Spine J] 2023 Feb; Vol. 32 (2), pp. 617-624. Date of Electronic Publication: 2022 Dec 15.
Autor:
Smith IC; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Pileggi CA; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Wang Y; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Kernohan K; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Hartley T; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., McMillan HJ; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Sampaio ML; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Melkus G; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Woulfe J; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Parmar G; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Bourque PR; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Breiner A; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Zwicker J; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Pringle CE; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Jarinova O; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Lochmüller H; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Dyment DA; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Brais B; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Boycott KM; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Hekimi S; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Harper ME; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada., Warman-Chardon J; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2023 Jan 25; Vol. 9 (1), pp. e200048. Date of Electronic Publication: 2023 Jan 25 (Print Publication: 2023).
Autor:
Melkus G; Department of Radiology, Radiation Oncology and Medical Physics, University of, Ottawa, Ottawa, ON, Canada; Ottawa Hospital Research Institute, Ottawa, ON, Canada; Department of Physics, Carleton University, Ottawa, ON, Canada., Sampaio ML; Department of Radiology, Radiation Oncology and Medical Physics, University of, Ottawa, Ottawa, ON, Canada; Ottawa Hospital Research Institute, Ottawa, ON, Canada; Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada., Smith IC; Ottawa Hospital Research Institute, Ottawa, ON, Canada., Rakhra KS; Department of Radiology, Radiation Oncology and Medical Physics, University of, Ottawa, Ottawa, ON, Canada; Ottawa Hospital Research Institute, Ottawa, ON, Canada; Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada., Bourque PR; Ottawa Hospital Research Institute, Ottawa, ON, Canada; Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada; Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa., Breiner A; Ottawa Hospital Research Institute, Ottawa, ON, Canada; Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada; Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa., Zwicker J; Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada; Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa., Lochmüller H; Ottawa Hospital Research Institute, Ottawa, ON, Canada; Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada; Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa; Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Brais B; Montreal Neurological Institute and Hospital, Genetics, McGill University, Montreal, Quebec, Canada., Warman-Chardon J; Ottawa Hospital Research Institute, Ottawa, ON, Canada; Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada; Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa; Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. Electronic address: jwarman@toh.ca.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Jan; Vol. 33 (1), pp. 24-31. Date of Electronic Publication: 2022 Oct 02.