نتائج البحث - Kristl G. Claeys
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Congenital myopathies: an update حسب Kristl G. Claeys
منشور في 2019Revisão -
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Phenotype variability and therapeutic response to Patisiran in patients with hereditary transthyretin amyloidosis: a Belgian real-world experience حسب Stéphanie Delstanche, Kristl G. Claeys, Jan De Bleecker, Gauthier Remiche, Pierre Troisfontaines, Vinciane Van Parys, Antoine Bondue
منشور في 2025Artigo -
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Clinical and biometrical 12-month follow-up in patients after reconstruction of the sural nerve biopsy defect by the collagen-based nerve guide Neuromaix حسب Ahmet Bozkurt, Kristl G. Claeys, Simone Schrading, Jana Vienna Rödler, Haktan Altinova, Jörg B. Schulz, Joachim Weis, Norbert Pallua, Sabien Geraldine Antonia van Neerven
منشور في 2017Artigo -
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Serum neurofilament heavy chains as early marker of motor neuron degeneration حسب Maxim De Schaepdryver, Janne Goossens, Steffi De Meyer, Andreas Jeromin, Pegah Masrori, Britta Brix, Kristl G. Claeys, Jolien Schaeverbeke, Katarzyna Adamczuk, Rik Vandenberghe, Philip Van Damme, Koen Poesen
منشور في 2019Artigo -
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Serum neurofilament light chain levels as a marker of upper motor neuron degeneration in patients with Amyotrophic Lateral Sclerosis حسب Benjamin Gille, Maxim De Schaepdryver, Janne Goossens, Lieselot Dedeene, Joke De Vocht, Emanuela Oldoni, An Goris, Ludo Van Den Bosch, Bart Depreitere, Kristl G. Claeys, Jos Tournoy, Philip Van Damme, Koen Poesen
منشور في 2018Artigo -
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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization حسب Jorge A. Bevilacqua, Nicole Monnier, Marc Bitoun, B. Eymard, Ana Ferreiro, Soledad Monges, F. Lubieniecki, Analía Taratuto, A. Laquérrière, Kristl G. Claeys, Isabelle Marty, Michel Fardeau, Pascale Guicheney, Joël Lunardi, Norma B. Romero
منشور في 2010Artigo -
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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease حسب Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayubá Perna, Alberto Dubrovsky, Marcondes C. França, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
منشور في 2020Artigo -
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Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG حسب Sarah Dewilde, Glenn Philips, Sandra Paci, Jon Beauchamp, Silvia Chiroli, Casey Quinn, Laura Day, Mark Larkin, Jacqueline Palace, Sonia Berrih‐Aknin, Kristl G. Claeys, Srikanth Muppidi, Renato Mantegazza, Francesco Saccà, Andreas Meisel, Guillaume Bassez, Hiroyuki Murai, M.H.M. Janssen
منشور في 2023Artigo -
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Switching Enzyme Replacement Therapy for Late‐Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of <scp>PROPEL</scp>... حسب Hani Kushlaf, Jordi Díaz‐Manera, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Paula R. Clemens, Mazen M. Dimachkie, Priya S. Kishnani, Pascal Laforêt, Mark Roberts, Benedikt Schoser, António Toscano, Jeff Castelli, Fred Holdbrook, Sheela Sitaraman Das, Mitchell H. Goldman, Tahseen Mozaffar
منشور في 2025Artigo -
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Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy حسب Marie‐Therese Holzer, Akinori Uruha, Andreas Roos, Andreas Hentschel, Anne Schänzer, Joachim Weis, Kristl G. Claeys, Benedikt Schoser, Federica Montagnese, Hans-Hilmar Goebel, Melanie Huber, Sarah Léonard-Louis, Ina Kötter, Nathalie Streichenberger, Laure Gallay, Olivier Benvéniste, Udo Schneider, Corinna Preuße, Martin Krusche, Werner Stenzel
منشور في 2024Artigo -
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Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients حسب Arvid Suls, Kristl G. Claeys, D. Goossens, B Harding, Rob van Luijk, Stefaan Scheers, Liesbet Deprez, Dominique Audenaert, Tine Van Dyck, Sabine Beeckmans, Iris Smouts, Berten Ceulemans, Lieven Lagae, Gunnar Buyse, Nina Barišić, Jean‐Paul Misson, J. Wauters, Jurgen Del‐Favero, Peter De Jonghe, Lieve Claes
منشور في 2006Artigo -
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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy حسب Kristl G. Claeys, Stephan Züchner, Marina Kennerson, José Berciano, Abel Garcı́a Garcı́a, K. Verhoeven, Elsdon Storey, John Merory, H.M.E. Bienfait, Martin Lammens, Eva Nelis, Jonathan Baets, Els De Vriendt, Zwi Berneman, Ilse De Veuster, Jeffery M. Vance, Garth A. Nicholson, Vincent Timmerman, Peter De Jonghe
منشور في 2009Artigo
أدوات البحث:
موضوعات ذات صلة
Medicine
Biology
Internal medicine
Genetics
Gene
Pathology
Disease
Mutation
Myopathy
Bioinformatics
Pediatrics
Phenotype
Biopsy
Muscle biopsy
Anatomy
Cohort
Immunology
Neuroscience
Computational biology
Exome sequencing
Amyotrophic lateral sclerosis
Cell biology
Genetic testing
Genotype
Guillain-Barre syndrome
Myasthenia gravis
Nemaline myopathy
Physical therapy
Surgery
Alternative splicing