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9 results on '"U.A. Badrising"'

1. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values

Author

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, Neurology, ANS - Neuroinfection & -inflammation, EURO-NMD, Immunology, 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., Gutierrez Gutierrez, G., Harbo, T., Hartung, H. -P., Hsieh, S. -T., Kiers, L., Lehmann, H. C., Manganelli, F., Marfia, G. A., Mataluni, G., Pardo, J., Pereon, Y., Rajabally, Y. A., Santoro, L., Sekiguchi, Y., Stein, B., Stettner, M., Uncini, A., Verboon, C., Verhamme, C., Vytopil, M., Waheed, W., Wang, M., Zivkovic, S., Jacobs, B. C., Cornblath, D. R., Arends, S, Drenthen, J, van den Bergh, P, Franssen, H, Hadden, R, Islam, B, Kuwabara, S, Reisin, R, Shahrizaila, N, Amino, H, Antonini, G, Attarian, S, Balducci, C, Barroso, F, Bertorini, T, Binda, D, Brannagan, T, Buermann, J, Casasnovas, C, Cavaletti, G, Chao, C, Dimachkie, M, Fulgenzi, E, Galassi, G, Gutierrez Gutierrez, G, Harbo, T, Hartung, H, Hsieh, S, Kiers, L, Lehmann, H, Manganelli, F, Marfia, G, Mataluni, G, Pardo, J, Pereon, Y, Rajabally, Y, Santoro, L, Sekiguchi, Y, Stein, B, Stettner, M, Uncini, A, Verboon, C, Verhamme, C, Vytopil, M, Waheed, W, Wang, M, Zivkovic, S, Jacobs, B, Cornblath, D, UCL - (SLuc) Centre de référence neuromusculaire, and UCL - (SLuc) Service de neurologie

Subjects
Nerve conduction studie, Electrodiagnòstic, Malalties autoimmunitàries, Electromyography, Electrodiagnosis, Autoimmune diseases, Neural Conduction, Medizin, Settore MED/26, Guillain-Barre Syndrome, AIDP, AMSAN, Sensory Systems, Reference values, Clinical trials, AMAN, Neurology, Physiology (medical), Outcome Assessment, Health Care, Humans, Nerve conduction studies, Neurology (clinical), Reference value, Assaigs clínics
Abstract

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 available in 957 IGOS patients from 115 centers. Only the first EDx study was included in the current analysis. Results: Median timing of the EDx study was 7 days (interquartile range 4-11) from symptom onset. Methodology varied between centers, countries and regions. Reference values from the responding 103 centers were derived locally in 49%, from publications in 37% and from a combination of these in the remaining 15%. Amplitude measurement in the EDx studies (baseline-to-peak or peak-to-peak) differed from the way this was done in the reference values, in 22% of motor and 39% of sensory conduction. There was marked variability in both motor and sensory reference values, although only a few outliers accounted for this. Conclusions: Our study showed extensive variation in the clinical practice of EDx in GBS patients among IGOS centers across the regions. Significance: Besides EDx variation in GBS patients participating in IGOS, this diversity is likely to be present in other neuromuscular disorders and centers. This underlines the need for standardization of EDx in future multinational GBS studies.(c) 2022 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Published
2022
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2. 1st FSHD European Trial Network workshop:Working towards trial readiness across Europe

Author

N.C. Voermans, M. Vriens-Munoz Bravo, G.W. Padberg, P. Laforêt, N. van Alfen, S. Attarian, U.A. Badrising, E. Bugiardini, P. Camano González, R.Y. Carlier, I. Desguerre, J. Diaz-Manera, J. Dumonceaux, B.G. van Engelen, T. Evangelista, S. Khosla, A. López de Munain, S.M. van der Maarel, A. Mejat, M. Monforte, F. Montagnese, K. Mul, P. Oflazer, B. Porter, S. Quijano-Roy, E. Ricci, S. Sacconi, V.A. Sansone, B. Schoser, J. Statland, E. Stumpe, G. Tasca, R. Tawil, C. Turner, and J. Vissing

Subjects
Gerontology, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], business, Genetics (clinical)
Abstract

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Published
2021
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3. Author response for 'Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease'

Author

U.A. Badrising, Karlien Mul, Saskia Lassche, Nienke van der Stoep, Baziel G.M. van Engelen, Christine E. M. de Die-Smulders, Olivier W.H. van der Heijden, Sanne C. C. Vincenten, Marjolein Kriek, Nicol C. Voermans, and Aimee D C Paulussen

Subjects
medicine.medical_specialty, Pregnancy, Obstetrics, business.industry, medicine, Reproductive counseling, Facioscapulohumeral muscular dystrophy, Disease, medicine.disease, business
Published
2021
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4. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

Author

John Graham, Stephen J. Tapscott, Natalie D. Shaw, Rabi Tawil, Angela E. Lin, Silvère M. van der Maarel, U.A. Badrising, Sabrina Sacconi, Steven A. Moore, Marjolein Kriek, Richard J.L.F. Lemmers, Ana Töpf, Volker Straub, Solange Kapetanovic García, Nicol C. Voermans, Katherine Johnson, Corinne G.C. Horlings, Karlien Mul, Marlinde L van den Boogaard, Patrick J. van der Vliet, Harrison Brand, Baziel G.M. van Engelen, and Teresinha Evangelista

Subjects
0301 basic medicine, Male, Adolescent, Chromosomal Proteins, Non-Histone, Mutation, Missense, Nose, medicine.disease_cause, Choanal Atresia, Article, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Missense mutation, Facioscapulohumeral muscular dystrophy, Humans, Microphthalmos, In patient, Muscular dystrophy, Young adult, BOSMA ARHINIA MICROPHTHALMIA SYNDROME, Aged, Genetics, Aged, 80 and over, Mutation, Base Sequence, business.industry, food and beverages, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Phenotype, Muscular Dystrophy, Facioscapulohumeral, Pedigree, 030104 developmental biology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

ObjectiveTo determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the SMCHD1 gene, might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction.MethodsWe examined and/or interviewed 14 patients with FSHD2 and 4 unaffected family members with N-terminal SMCHD1 pathogenic missense variants to identify BAMS subphenotypes.ResultsNone of the patients with FSHD2 or family members demonstrated any congenital defects or dysmorphic features commonly found in patients with BAMS. One patient became anosmic after nasal surgery and one patient was hyposmic; one man was infertile (unknown cause) but reported normal pubertal development.ConclusionThese data suggest that arhinia/BAMS and FSHD2 do not represent one phenotypic spectrum and that SMCHD1 pathogenic variants by themselves are insufficient to cause either of the 2 disorders. More likely, both arhinia/BAMS and FSHD2 are caused by complex oligogenic or multifactorial mechanisms that only partially overlap at the level of SMCHD1.

Published
2018

5. O.25Phase 1 clinical trial of losmapimod in FSHD: safety, tolerability and target engagement

Author

Sander Brooks, Geert Jan Groeneveld, Michelle Mellion, E. van Brummelen, Diego Cadavid, Lisa Pagan, U.A. Badrising, D. Thompson, Michelle Hage, L. Ronco, and B.G.M. van Engelen

Subjects
Clinical trial, medicine.medical_specialty, Neurology, Losmapimod, business.industry, Pediatrics, Perinatology and Child Health, Target engagement, Physical therapy, Medicine, Safety tolerability, Neurology (clinical), business, Genetics (clinical)
Published
2019
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6. Association of the leukocyte immunoglobulin G (Fcgamma) receptor IIIa-158V/F polymorphism with inflammatory myopathies in Dutch patients

Author

U.A. Badrising, Axel R. Wintzen, Bernard M. J. Uitdehaag, M. de Visser, W. L. van der Pol, Jessica E. Hoogendijk, M. Blokland‐Fromme, J. van de Vlekkert, I. M. Bronner, Jeanette H. W. Leusen, Neurology, Other departments, and Other Research

Subjects
Adult, Male, Genotype, IgG, Immunology, Inflammation, Biology, Research Support, GPI-Linked Proteins, Biochemistry, Polymyositis, Immunoglobulin G, Genetic, Gene Frequency, Receptors, Journal Article, Genetics, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Polymorphism, Allele, Non-U.S. Gov't, Allele frequency, Aged, Netherlands, Polymorphism, Genetic, Myositis, Research Support, Non-U.S. Gov't, Receptors, IgG, General Medicine, Odds ratio, Middle Aged, Dermatomyositis, medicine.disease, biology.protein, Female, medicine.symptom
Abstract

Leukocytes are involved in the pathogenesis of idiopathic inflammatory myopathies (IIMs). Immunoglobulin G (IgG) receptors (FcgammaR) link the specificity of IgG to the effector functions of leukocytes. Several FcgammaR subclasses display functional polymorphisms that determine in part the vigour of the inflammatory response. FcgammaRIIIa genotypes were differentially distributed among 100 IIM patients compared with 514 healthy controls with a significant increase of the homozygous FcgammaRIIIa-V-158 genotype (3 x 2 contingency table, chi(2) = 6.3, P = 0.04). Odds ratios (ORs) increased at the addition of each FcgammaRIIIa-V-158 allele, in particular among patients with non-specific myositis and dermatomyositis {OR 2.1 [95% confidence interval (CI) 1.1-4.3] and 2.7 (95% CI 1.1-6.4) for FcgammaRIIIa-V/F158 and FcgammaRIIIa-V/V158 genotypes, respectively, using FcgammaRIIIa-F/F158 as a reference group}. These data suggest that the FcgammaRIIIa-V-158 allele may constitute a genetic risk marker for IIM.

Published
2009
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8. Epidemiology of inclusion body myositis in the Netherlands

Author

Frans G. I. Jennekens, S. G. Van Duinen, B.G.M. van Engelen, J.J.G. Verschuuren, H. van der Leeuw, C.J. Höweler, P.A. van Doorn, F. van den Hoogen, Marion L.C. Maat-Schieman, A.E.J. De Jager, Jessica E. Hoogendijk, U.A. Badrising, Peter J. Koehler, M. de Visser, and Axel R. Wintzen

Subjects
medicine.medical_specialty, Pediatrics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Epidemiology, Medicine, Neurology (clinical), Inclusion body myositis, business, medicine.disease, Genetics (clinical)
Published
1997
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9. The onset and distribution of muscle weakness in inclusion body myositis (IBM)

Author

F.H.J. van den Hoogen, A.E.J. De Jager, H. van der Leeuw, M. de Visser, Marion L.C. Maat-Schieman, Frans G. I. Jennekens, B.G.M. van Engelen, Jessica E. Hoogendijk, J.J.G. Verschuuren, P.A. van Doorn, C.J. Höweler, U.A. Badrising, Peter J. Koehler, Axel R. Wintzen, and S. G. Van Duinen

Subjects
business.industry, Muscle weakness, Anatomy, medicine.disease, Neurology, Pediatrics, Perinatology and Child Health, medicine, Distribution (pharmacology), Neurology (clinical), Inclusion body myositis, medicine.symptom, IBM, business, Genetics (clinical)
Published
1997
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