Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Snjolaug, Arnardottir"'
Autor:
Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg, Maria Pettersson, Britt-Marie Anderlid, Anna Hammarsjö, Hafdis T. Helgadottir, Snjolaug Arnardottir, Karin Naess, Inger Nennesmo, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Thomas Sejersen, Anna Lindstrand, Malin Kvarnung
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionNeuromuscular disorders (NMDs) have a heterogeneous etiology. A genetic diagnosis is key to personalized healthcare and access to targeted treatment for the affected individuals.MethodsIn this study, 861 patients with NMDs were analyzed w
Externí odkaz:
https://doaj.org/article/279974e3e659446ebf76b3c16f6f97bf
Autor:
Snjolaug, Arnardottir, Francesca, Del Gaudio, Stefanos, Klironomos, Eike-Benjamin, Braune, Ariane Araujo, Lombraña, Daniel V, Oliveira, Shaobo, Jin, Helena, Karlström, Urban, Lendahl, Christina, Sjöstrand
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Objective To conduct a clinical study of a family with neurologic symptoms and findings carrying a novel NOTCH3 mutation and to analyze the molecular consequences of the mutation. Methods We analyzed a family with complex neurologic symptoms by MRI a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ebf8f0d94e8cad2dbfe4dcf90b7c9762
https://pubmed.ncbi.nlm.nih.gov/33898742
https://pubmed.ncbi.nlm.nih.gov/33898742
Autor:
Jiri Vencovsky, Albert Selva-O'Callaghan, James D. Katz, Helga Sanner, Ann M. Reed, Anthony A. Amato, Lisa G. Rider, Clarissa Pilkington, Hector Chinoy, Anna Tjärnlund, Ignacio García-De La Torre, Lidia Rutkowska-Sak, Mazen M. Dimachkie, Frederick W. Miller, Steven R. Ytterberg, Matteo Bottai, Victoria P. Werth, Yuhui Li, Rohit Aggarwal, Yeong Wook Song, Marianne de Visser, Jasvinder A. Singh, Marzena Olesińska, Chester V. Oddis, Peter A. Lachenbruch, Patrick Gordon, Robert G. Cooper, Ingrid E. Lundberg, Hitoshi Kohsaka, Snjolaug Arnardottir, Bianca A. Lang, Brian M. Feldman, Taichi Hayashi, Lars Alfredsson, Matthew H. Liang, Katalin Dankó, Richard J. Barohn
Publikováno v:
ANNALS OF THE RHEUMATIC DISEASES
International Myositis Classification Criteria Project Consortium, Euromyositis Register, Juvenile Dermatomyositis Cohort Biomarker Study and Repository (UK and Ireland), Lundberg, I E, Tjärnlund, A, Bottai, M, Werth, V P, Pilkington, C, de Visser, M, Alfredsson, L, Amato, A A, Barohn, R J, Liang, M H, Singh, J A, Aggarwal, R, Arnardottir, S, Chinoy, H, Cooper, R G, Dankó, K, Dimachkie, M M, Feldman, B M, Garcia-De La Torre, I, Gordon, P, Hayashi, T, Katz, J D, Kohsaka, H, Lachenbruch, P A, Lang, B A, Li, Y, Oddis, C V, Olesinska, M, Reed, A M, Rutkowska-Sak, L, Sanner, H, Selva-O'Callaghan, A, Song, Y W, Vencovsky, J, Ytterberg, S R, Miller, F W & Rider, L G 2017, ' 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups ', Arthritis and Rheumatology, vol. 69, no. 12, pp. 2271-2282 . https://doi.org/10.1002/art.40320
Lundberg, I E, Tjärnlund, A, Bottai, M, Werth, V P, Pilkington, C, de Visser, M, Alfredsson, L, Amato, A, Barohn, R J, Liang, M H, Singh, J A, Aggarwal, R, Arnardottir, S, Chinoy, H, Cooper, R G, Danko, K, Dimachkie, M, Feldman, B M, La Torre, I G-D, Gordon, P, Hayashi, T, Katz, J D, Kohsaka, H, Lachenbruch, P A, Lang, B A, Li, Y, Oddis, C V, Olesinska, M, Reed, A M, Rutkowska-Sak, L, Sanner, H, Selva-O'Callaghan, A, Song, Y-W, Vencovsky, J, Ytterberg, S R, Miller, F W & Rider, L G 2017, ' 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups ', Annals of the rheumatic diseases, vol. 76, no. 12, pp. 1955-1964 . https://doi.org/10.1136/annrheumdis-2017-211468
Arthritis & Rheumatology, 69(12), 2271. John Wiley and Sons Ltd
ARTHRITIS & RHEUMATOLOGY
Annals of the rheumatic diseases, 76(12), 1955-1964. BMJ Publishing Group
Arthritis & rheumatology (Hoboken, N.J.), 69(12), 2271-2282. John Wiley and Sons Ltd
Annals of the Rheumatic Diseases, 76(12), 1955. BMJ Publishing Group
International Myositis Classification Criteria Project Consortium, Euromyositis Register, Juvenile Dermatomyositis Cohort Biomarker Study and Repository (UK and Ireland), Lundberg, I E, Tjärnlund, A, Bottai, M, Werth, V P, Pilkington, C, de Visser, M, Alfredsson, L, Amato, A A, Barohn, R J, Liang, M H, Singh, J A, Aggarwal, R, Arnardottir, S, Chinoy, H, Cooper, R G, Dankó, K, Dimachkie, M M, Feldman, B M, Garcia-De La Torre, I, Gordon, P, Hayashi, T, Katz, J D, Kohsaka, H, Lachenbruch, P A, Lang, B A, Li, Y, Oddis, C V, Olesinska, M, Reed, A M, Rutkowska-Sak, L, Sanner, H, Selva-O'Callaghan, A, Song, Y W, Vencovsky, J, Ytterberg, S R, Miller, F W & Rider, L G 2017, ' 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups ', Arthritis and Rheumatology, vol. 69, no. 12, pp. 2271-2282 . https://doi.org/10.1002/art.40320
Lundberg, I E, Tjärnlund, A, Bottai, M, Werth, V P, Pilkington, C, de Visser, M, Alfredsson, L, Amato, A, Barohn, R J, Liang, M H, Singh, J A, Aggarwal, R, Arnardottir, S, Chinoy, H, Cooper, R G, Danko, K, Dimachkie, M, Feldman, B M, La Torre, I G-D, Gordon, P, Hayashi, T, Katz, J D, Kohsaka, H, Lachenbruch, P A, Lang, B A, Li, Y, Oddis, C V, Olesinska, M, Reed, A M, Rutkowska-Sak, L, Sanner, H, Selva-O'Callaghan, A, Song, Y-W, Vencovsky, J, Ytterberg, S R, Miller, F W & Rider, L G 2017, ' 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups ', Annals of the rheumatic diseases, vol. 76, no. 12, pp. 1955-1964 . https://doi.org/10.1136/annrheumdis-2017-211468
Arthritis & Rheumatology, 69(12), 2271. John Wiley and Sons Ltd
ARTHRITIS & RHEUMATOLOGY
Annals of the rheumatic diseases, 76(12), 1955-1964. BMJ Publishing Group
Arthritis & rheumatology (Hoboken, N.J.), 69(12), 2271-2282. John Wiley and Sons Ltd
Annals of the Rheumatic Diseases, 76(12), 1955. BMJ Publishing Group
ObjectiveTo develop and validate new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIM) and their major subgroups.MethodsCandidate variables were assembled from published criteria and expert opinion using consensu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5adf87784cc54ca722c893042194e3be
https://doi.org/10.1136/annrheumdis-2017-211468
https://doi.org/10.1136/annrheumdis-2017-211468
Autor:
Stefanos Klironomos, Daniel V. Oliveira, Christina Sjöstrand, Snjolaug Arnardottir, Shaobo Jin, Helena Karlström, Urban Lendahl, Francesca Del Gaudio, Ariane Araujo Lombraña, Eike-Benjamin Braune
Publikováno v:
Neurology Genetics. 7:e584
ObjectiveTo conduct a clinical study of a family with neurologic symptoms and findings carrying a novel NOTCH3 mutation and to analyze the molecular consequences of the mutation.MethodsWe analyzed a family with complex neurologic symptoms by MRI and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efb5b636936db824e62fbc6be32f6b2f
https://doi.org/10.1212/nxg.0000000000000584
https://doi.org/10.1212/nxg.0000000000000584
Autor:
K. Dahlbom, J. Hudson, Christoffer Jonsrud, Morten Duno, Christoph M Wahl, Hanns Lochmüller, Volker Straub, Lise Gammelgaard, Rita Barresi, Snjolaug Arnardottir, Marijke Van Ghelue, Nanna Witting, Laurence A. Bindoff, John Vissing
Publikováno v:
Vissing, J, Barresi, R, Witting, N, Van Ghelue, M, Gammelgaard, L, Bindoff, L A, Straub, V, Lochmuller, H, Hudson, J, Wahl, C M, Arnardottir, S, Dahlbom, K, Jonsrud, C & Duno, M 2016, ' A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy ', Brain, vol. 139, no. 8, pp. 2154-2163 . https://doi.org/10.1093/brain/aww133
Limb girdle muscular dystrophy type 2A is the most common limb girdle muscular dystrophy form worldwide. Although strict recessive inheritance is assumed, patients carrying a single mutation in the calpain 3 gene (CAPN3) are reported. Such findings a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586db66e1f0be9f10af57549e3a85413
https://doi.org/10.1093/brain/aww133
https://doi.org/10.1093/brain/aww133
Autor:
Bas J. A. van Hoeve, Ingrid E. Lundberg, Annemarie van der Heijden, Wilbert C. Boelens, Helenius J. Schelhaas, Sander H. J. van Dooren, Marcel M. Verbeek, Judith Stammen-Vogelzangs, Umesh A. Badrising, Baziel G.M. van Engelen, Snjolaug Arnardottir, Helma Pluk, Karina Roxana Gheorghe, Ger J. M. Pruijn
Publikováno v:
Annals of Neurology. 73:397-407
OBJECTIVE: Sporadic inclusion body myositis (sIBM) is an inflammatory myopathy characterized by both degenerative and autoimmune features. In contrast to other inflammatory myopathies, myositis-specific autoantibodies had not been found in sIBM patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0737bd8adf765cff4261dddc0b6f7350
https://doi.org/10.1002/ana.23822
https://doi.org/10.1002/ana.23822
Autor:
Vivianne Malmström, Jayesh Pandya, Snjolaug Arnardottir, Andreas E. R. Fasth, Ingrid E. Lundberg, Mei Zong, Lara Dani, Eva Lindroos
Publikováno v:
Arthritis & Rheumatism. 62:3457-3466
Objective Sporadic inclusion body myositis (IBM) is characterized by T cell infiltrates in muscle tissue, but their functional role is unclear. Systemic signs of inflammation are lacking, and the absence of beneficial effects following immunosuppress
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1752845471c73a04f9e0e88e629df8a7
https://doi.org/10.1002/art.27665
https://doi.org/10.1002/art.27665
Publikováno v:
Journal of Rehabilitation Medicine. 35:31-35
Objective: To evaluate the safety and effect of a home training program on muscle function in 7 patients with sporadic inclusion body myositis. Design: The patients performed exercise 5 days a week over a 12-week period. Methods: Safety was assessed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6ae6c0e9f5f6fd396380901d7b5e57
https://doi.org/10.1080/16501970306110
https://doi.org/10.1080/16501970306110
Autor:
Yuhui Li, Richard J. Barohn, Albert Selva-O'Callaghan, Ignacio García-De La Torre, Victoria P. Werth, Robert G. Cooper, Marzena Olesinka, Snjolaug Arnardottir, Marianne de Visser, Patrick Gordon, James D. Katz, Brian M. Feldman, Lidia Rutkowska-Sak, Taichi Hayashi, Mazen M. Dimachkie, Yeong Wook Song, Peter A. Lachenbruch, Bianca A. Lang, Lisa G. Rider, Jasvinder A. Singh, Matthew H. Liang, Frederick W. Miller, Ingrid E. Lundberg, Chester V. Oddis, Anna Tjärnlund, Clarissa Pilkington, Ann M. Reed, Rohit Aggarwal, Giola Santoni, Hitoshi Kohsaka, Matteo Bottai, Jiri Vencovsky, Hector Chinoy, Steven R. Ytterberg, Lars Alfredsson, Katalin Dankó, Helga Sanner, Anthony A. Amato
Publikováno v:
RMD Open
Bottai, M, Tjärnlund, A, Santoni, G, Werth, V P, Pilkington, C, de Visser, M, Alfredsson, L, Amato, A, Barohn, R J, Liang, M H, Singh, J A, Aggarwal, R, Arnardottir, S, Chinoy, H, Cooper, R G, Danko, K, Dimachkie, M, Feldman, B M, La Torre, I G-D, Gordon, P, Hayashi, T, Katz, J D, Kohsaka, H, Lachenbruch, P A, Lang, B A, Li, Y, Oddis, C V, Olesinska, M, Reed, A M, Rutkowska-Sak, L, Sanner, H, Selva-O'Callaghan, A, Song, Y-W, Vencovsky, J, Ytterberg, S R, Miller, F W, Rider, L G & Lundberg, I E 2017, ' EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a methodology report ', RMD Open, vol. 3, no. 2, e000507 . https://doi.org/10.1136/rmdopen-2017-000507
RMD open, 3(2). BMJ Publishing Group
RMD open
Bottai, M, Tjärnlund, A, Santoni, G, Werth, V P, Pilkington, C, de Visser, M, Alfredsson, L, Amato, A, Barohn, R J, Liang, M H, Singh, J A, Aggarwal, R, Arnardottir, S, Chinoy, H, Cooper, R G, Danko, K, Dimachkie, M, Feldman, B M, La Torre, I G-D, Gordon, P, Hayashi, T, Katz, J D, Kohsaka, H, Lachenbruch, P A, Lang, B A, Li, Y, Oddis, C V, Olesinska, M, Reed, A M, Rutkowska-Sak, L, Sanner, H, Selva-O'Callaghan, A, Song, Y-W, Vencovsky, J, Ytterberg, S R, Miller, F W, Rider, L G & Lundberg, I E 2017, ' EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a methodology report ', RMD Open, vol. 3, no. 2, e000507 . https://doi.org/10.1136/rmdopen-2017-000507
RMD open, 3(2). BMJ Publishing Group
RMD open
Objective: To describe the methodology used to develop new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIM) and their major subgroups. Methods: An international, multidisciplinary group of myositis experts produ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cb8cec037a25688cc1d525486bd9727
https://doi.org/10.1136/rmdopen-2017-000507
https://doi.org/10.1136/rmdopen-2017-000507
Autor:
Helma, Pluk, Bas J A, van Hoeve, Sander H J, van Dooren, Judith, Stammen-Vogelzangs, Annemarie, van der Heijden, Helenius J, Schelhaas, Marcel M, Verbeek, Umesh A, Badrising, Snjolaug, Arnardottir, Karina, Gheorghe, Ingrid E, Lundberg, Wilbert C, Boelens, Baziel G, van Engelen, Ger J M, Pruijn
Publikováno v:
Annals of neurology. 73(3)
Sporadic inclusion body myositis (sIBM) is an inflammatory myopathy characterized by both degenerative and autoimmune features. In contrast to other inflammatory myopathies, myositis-specific autoantibodies had not been found in sIBM patients until r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::92392856f7cfecf5de820be0b995d4eb
https://pubmed.ncbi.nlm.nih.gov/23460448
https://pubmed.ncbi.nlm.nih.gov/23460448