Zobrazeno 1 - 10
of 238
pro vyhledávání: '"Peter van den Bergh"'
Autor:
Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mutations in these genes disrupt myosin structure and function leading to skeletal muscle myopathies t
Externí odkaz:
https://doaj.org/article/59ff4fd339fd4cbaa9a588a2470f9192
Autor:
Maggie C. Walter, Pascal Laforêt, W. Ludo van der Pol, Elena Pegoraro, Shahram Attarian, Bart Bartels, Ksenija Gorni, Nathalie Goemans, Nicole Gusset, Victoria Hodgkinson, Tim Hagenacker, Janbernd Kirschner, Andrea Klein, Anna Kostera-Pruszczyk, Hanns Lochmüller, Chiara Marini-Bettolo, Eugenio Mercuri, Robert Muni-Lofra, Laetitia Ouillade, Rosaline Quinlivan, Constantinos Papadopoulos, Hélène Prigent, Emmanuelle Salort-Campana, Valeria A Sansone, Rivka Smit, Piera Smeriglio, Simone Thiele, Ben Tichler, Peter Van den Bergh, Juan F Vazquez-Costa, John Vissing
Publikováno v:
Neuromuscular Disorders. 33:511-522
Autor:
Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O’Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M. Fare, Lauren E. Drake, Alice F. Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Van den Bergh, Nicol C. Voermans, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Devon Bonner, Jacinda B. Sampson, Matthew T. Wheeler, Anahit Mehrabyan, Steven Palmer, Peter De Jonghe, James Shorter, J. Paul Taylor, Jonathan Baets
Publikováno v:
JCI Insight, Vol 6, Iss 14 (2021)
Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble wi
Externí odkaz:
https://doaj.org/article/47cf72fa59a4478a90634b78aa5718fd
Autor:
Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
Publikováno v:
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Abstract Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies
Externí odkaz:
https://doaj.org/article/7b793b20033f4da8837130c6461f81e4
Autor:
Vincent Tiffreau, Christine Detrembleur, Peter Van Den Bergh, Anne Renders, Virginie Kinet, André Thevenon, Etienne Allart, Thierry Lejeune
Publikováno v:
The Journal of the International Society of Physical and Rehabilitation Medicine, Vol 1, Iss 2, Pp 65-71 (2018)
Objective: The objective was to characterize the gait abnormalities in myotonic dystrophy type 1 patients. Material and Methods: Outcomes variables were kinematic and kinetic parameters, timing of muscles, mechanical work and energy cost, and the mot
Externí odkaz:
https://doaj.org/article/c872e31f3eff4be28fdd84e0816886f8
Autor:
Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala
Myosin heavy chains encoded byMYH7andMYH2are among the most abundant proteins in human skeletal muscle. After decades of intense research using a wide range of biophysical and biological approaches, their functions have begun to be elucidated. Despit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab1b4ec646b6b611cfeaf932f88e8f58
https://doi.org/10.1101/2023.05.15.540775
https://doi.org/10.1101/2023.05.15.540775
Autor:
Nicholas M Allen, Mark O’Rahelly, Bruno Eymard, Mondher Chouchane, Andreas Hahn, Gerry Kearns, Dae-Seong Kim, Shin Yun Byun, Cam-Tu Emilie Nguyen, Ulrike Schara-Schmidt, Heike Kölbel, Adela Della Marina, Christiane Schneider-Gold, Kathryn Roefke, Andrea Thieme, Peter Van den Bergh, Gloria Avalos, Rodrigo Álvarez-Velasco, Daniel Natera-de Benito, Man Hin Mark Cheng, Wing Ki Chan, Hoi Shan Wan, Mary Ann Thomas, Lauren Borch, Julie Lauzon, Cornelia Kornblum, Jens Reimann, Andreas Mueller, Thierry Kuntzer, Fiona Norwood, Sithara Ramdas, Leslie W Jacobson, Xiaobo Jie, Miguel A Fernandez-Garcia, Elizabeth Wraige, Ming Lim, Jean Pierre Lin, Kristl G Claeys, Selma Aktas, Maryam Oskoui, Yael Hacohen, Ameneh Masud, M Isabel Leite, Jacqueline Palace, Darryl De Vivo, Angela Vincent, Heinz Jungbluth
Publikováno v:
Brain.
In utero exposure to maternal antibodies targeting the fetal acetylcholine receptor isoform (fAChR) can impair fetal movement, leading to arthrogryposis multiplex congenita (AMC). fAChR antibodies have also been implicated in apparently rare, milder
Autor:
Katina Aleksovska, Teia Kobulashvili, Joao Costa, Georg Zimmermann, Karen Ritchie, Carola Reinhard, Luca Vignatelli, Alessandra Fanciulli, Maxwel Damian, Lucia Pavlakova, Jean‐Marc Burgunder, Svetlana Kopishinskaya, Martin Rakusa, Norbert Kovacs, Fusun Ferda Erdogan, Lori Renna Linton, Massimiliano Copetti, Costanza Lamperti, Serenella Servidei, Theresina Evangelista, Segolene Ayme, Davide Pareyson, Johann Sellner, Christian Krarup, Marianne de Visser, Peter van den Bergh, Antonio Toscano, Holm Graessner, Thomas Berger, Claudio Bassetti, Marie Vidailhet, Eugene Trinka, Guenther Deuschl, Antonio Federico, Maurizio A. Leone
Publikováno v:
European journal of neurology, 29(6), 1571-1586. Wiley-Blackwell
© 2022 European Academy of Neurology
Background and purpose: Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect the nervous system or muscles. Delays in diagnosis and treatment onset and insufficie
Background and purpose: Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect the nervous system or muscles. Delays in diagnosis and treatment onset and insufficie
Autor:
Samuel Arends, Judith Drenthen, Peter van den Bergh, Hessel Franssen, Robert D.M. Hadden, Badrul Islam, Satoshi Kuwabara, Ricardo C. Reisin, Nortina Shahrizaila, Hiroshi Amino, Giovanni Antonini, Shahram Attarian, Claudia Balducci, Fabio Barroso, Tulio Bertorini, Davide Binda, Thomas H. Brannagan, Jan Buermann, Carlos Casasnovas, Guido Cavaletti, Chi-Chao Chao, Mazen M. Dimachkie, Ernesto A. Fulgenzi, Giuliana Galassi, Gerardo Gutiérrez Gutiérrez, Thomas Harbo, Hans-Peter Hartung, Sung-Tsang Hsieh, Lynette Kiers, Helmar C. Lehmann, Fiore Manganelli, Girolama A. Marfia, Giorgia Mataluni, Julio Pardo, Yann Péréon, Yusuf A. Rajabally, Lucio Santoro, Yukari Sekiguchi, Beth Stein, Mark Stettner, Antonino Uncini, Christine Verboon, Camiel Verhamme, Michal Vytopil, Waqar Waheed, Min Wang, Sasha Zivkovic, Bart C. Jacobs, David R. Cornblath, J.M. Addington, S. Ajroud-Driss, H. Andersen, G. Antonini, S. Attarian, U.A. Badrising, G. Balloy, F.A. Barroso, K. Bateman, I.R. Bella, L. Benedetti, P. van den Bergh, T.E. Bertorini, R. Bhavaraju-Sanka, M. Bianco, T.H. Brannagan, C. Briani, null Buerrmann, M. Busby, S. Butterworth, C. Casasnovas, G. Cavaletti, C.C. Chao, G. Chavada, S. Chen, K.G. Claeys, M.E. Conti, D.R. Cornblath, J.S. Cosgrove, M.C. Dalakas, P. van Damme, E. Dardiotis, A. Davidson, M.A. Derejko, G.W. van Dijk, M.M. Dimachkie, P.A. van Doorn, C. Dornonville de la Cour, A. Echaniz-Laguna, F. Eftimov, C.G. Faber, R. Fazio, T.E. Feasby, C. Fokke, T. Fujioka, E.A. Fulgenzi, G. Galassi, T. Garcia-Sobrino, M.P.J. Garssen, C.J. Gijsbers, J.M. Gilchrist, H.J. Gilhuis, J.M. Goldstein, K.C. Gorson, N.A. Goyal, V. Granit, S.T.E. Grisanti, null Gutiérrez-Gutiérrez, L. Gutmann, R.D.M. Hadden, T. Harbo, H.P. Hartung, J.V. Holbech, J.K.L. Holt, S.T. Hsieh, M. Htut, R.A.C. Hughes, I. Illa, B. Islam, Z. Islam, B.C. Jacobs, J. Fehmi, K. Jellema, I. Jerico Pascual, K. Kaida, S. Karafiath, H.D. Katzberg, M.A. Khoshnoodi, L. Kiers, K. Kimpinski, R.P. Kleyweg, N. Kokubun, N.A. Kolb, R. van Koningsveld, A.J. van der Kooi, J.C.H.M. Kramers, K. Kuitwaard, S. Kusunoki, S. Kuwabara, J.Y. Kwan, S.S. Ladha, L. Landschoff Lassen, V. Lawson, H.C. Lehmann, E. Lee Pan, M.P.T. Lunn, H. Manji, G.A. Marfia, C. Márquez Infante, L. Martin-Aguilar, E. Martinez Hernandez, G. Mataluni, M. Mattiazi, C.J. McDermott, G.D. Meekins, J.A.L. Miller, Q.D. Mohammad, M.S. Monges, G. Moris de la Tassa, C. Nascimbene, F.J. Navacerrada-Barrero, E. Nobile-Orazio, R.J. Nowak, P.J. Orizaola, M. Osei-Bonsu, A.M. Pardal, J. Pardo, R.M. Pascuzzi, Y. Péréon, M.T. Pulley, L. Querol, S.W. Reddel, T. van der Ree, R.C. Reisin, S. Rinaldi, R.C. Roberts, I. Rojas-Marcos, null Rudnicki, G.M. Sachs, J.P.A. Samijn, L. Santoro, A. Schenone, M.J. Sedano Tous, N. Shahrizaila, K.A. Sheikh, N.J. Silvestri, S.H. Sindrup, C.L. Sommer, B. Stein, Y. Song, A.M. Stino, H. Tankisi, M.R. Tannemaat, P. Twydell, P.V. Vélez-Santamaria, J.D. Varrato, F.H. Vermeij, L.H. Visser, M.V. Vytopil, W. Waheed, C. Walgaard, Y.Z. Wang, H.J. Willison, P.W. Wirtz, Y. Yamagishi, L. Zhou, S.A. Zivkovic
Publikováno v:
Clinical Neurophysiology, 138, 231-240. ELSEVIER IRELAND LTD
Clinical neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Dipòsit Digital de la UB
Universidad de Barcelona
Arends, S, Drenthen, J, van den Bergh, P, Franssen, H, Hadden, R D M, Islam, B, Kuwabara, S, Reisin, R C, Shahrizaila, N, Amino, H, Antonini, G, Attarian, S, Balducci, C, Barroso, F, Bertorini, T, Binda, D, Brannagan, T H, Buermann, J, Casasnovas, C, Cavaletti, G, Chao, C C, Dimachkie, M M, Fulgenzi, E A, Galassi, G, Gutiérrez Gutiérrez, G, Harbo, T, Hartung, H P, Hsieh, S T, Kiers, L, Lehmann, H C, Manganelli, F, Marfia, G A, Mataluni, G, Pardo, J, Péréon, Y, Rajabally, Y A, Santoro, L, Sekiguchi, Y, Stein, B & the IGOS consortium 2022, ' Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study : Differences in methods and reference values ', Clinical Neurophysiology, vol. 138, pp. 231-240 . https://doi.org/10.1016/j.clinph.2021.12.014
Clinical Neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, Vol. 138, no.1, p. 231-240 (2022)
Clinical neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Dipòsit Digital de la UB
Universidad de Barcelona
Arends, S, Drenthen, J, van den Bergh, P, Franssen, H, Hadden, R D M, Islam, B, Kuwabara, S, Reisin, R C, Shahrizaila, N, Amino, H, Antonini, G, Attarian, S, Balducci, C, Barroso, F, Bertorini, T, Binda, D, Brannagan, T H, Buermann, J, Casasnovas, C, Cavaletti, G, Chao, C C, Dimachkie, M M, Fulgenzi, E A, Galassi, G, Gutiérrez Gutiérrez, G, Harbo, T, Hartung, H P, Hsieh, S T, Kiers, L, Lehmann, H C, Manganelli, F, Marfia, G A, Mataluni, G, Pardo, J, Péréon, Y, Rajabally, Y A, Santoro, L, Sekiguchi, Y, Stein, B & the IGOS consortium 2022, ' Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study : Differences in methods and reference values ', Clinical Neurophysiology, vol. 138, pp. 231-240 . https://doi.org/10.1016/j.clinph.2021.12.014
Clinical Neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, Vol. 138, no.1, p. 231-240 (2022)
Objective: To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barre syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS). Methods: Prospectively collected clinical and EDx data were availab
Autor:
Carina Bunschoten, Pieter A. van Doorn, Bart C. Jacobs, David R. Cornblath, Luis Querol, Peter Van den Bergh
Publikováno v:
Journal of the Peripheral Nervous System, 25, 4-8. Wiley-Blackwell Publishing Ltd