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1.
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11 p, 1.1 MB |
Characteristic retinal atrophy pattern allows differentiation between pediatric MOGAD and MS after a single optic neuritis episode
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Pakeerathan, T. (Ruhr-University Bochum) ;
Havla, Joachim (Ludwig-Maximilians-Universität München) ;
Schwake, C. (Ruhr-University Bochum) ;
Salmen, A. (University of Bern. Department of Neurology, Inselspital, Bern University Hospital) ;
Bigi, S. (University of Bern) ;
Abegg, M. (University of Bern) ;
Brügger, D. (University of Bern) ;
Ferrazzini, T. (University of Bern) ;
Runge, A.-K. (University of Bern) ;
Breu, Markus (Medical University of Vienna) ;
Kornek, B. (Medical University of Vienna) ;
Bsteh, G. (Medical University of Vienna) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron) ;
Ringelstein, M. (Heinrich-Heine-University Düsseldorf) ;
Aktas, Orhan (Heinrich-Heine-University Düsseldorf) ;
Karenfort, M. (Heinrich-Heine-University Düsseldorf) ;
Wendel, E. (Olgahospital) ;
Kleiter, I. (Marianne-Strauß-Klinik) ;
Hellwig, K. (Ruhr-University Bochum. Department of Neurology, St. Josef-Hospital) ;
Kümpfel, Tania (Ludwig-Maximilians-Universität München) ;
Thiels, C. (Ruhr-University) ;
Lücke, T. (Ruhr-University) ;
Gold, R. (Ruhr-University Bochum) ;
Rostasy, K. (University Witten/Herdecke) ;
Ayzenberg, I. (Ruhr-University Bochum) ;
Universitat Autònoma de Barcelona
Optic neuritis (ON) is the most prevalent manifestation of pediatric multiple sclerosis (MS ped) and myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD ped) in children > 6 years. [...]
2022 -  10.1007/s00415-022-11256-y
Journal of Neurology, Vol. 269 (july 2022) , p. 6366-6376
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2.
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10 p, 1.7 MB |
Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD : how much retina do you really need to see well?
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Havla, Joachim (Ludwig-Maximilians-Universität München) ;
Pakeerathan, Thivya (Ruhr-University Bochum) ;
Schwake, Carolin (Ruhr-University Bochum) ;
Bennett, Jeffrey L. (University of Colorado Anschutz Medical Campu) ;
Kleiter, Ingo (Marianne-Strauß-Klinik) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Joachim, Stephanie C. (Ruhr-University Bochum) ;
Lotz-Havla, Amelie S. (Ludwig-Maximilians-Universität München) ;
Kümpfel, Tania (Ludwig-Maximilians-Universität München) ;
Krumbholz, Markus (University Hospital of Tübingen (Alemanya)) ;
Wendel, Eva M. (Olgaspital Stuttgart) ;
Reindl, Markus (Medical University of Innsbruck) ;
Thiels, Charlotte (Ruhr-University) ;
Lücke, Thomas (Ruhr-University) ;
Hellwig, Kerstin (Ruhr-University Bochum) ;
Gold, Ralf (Ruhr-University Bochum) ;
Rostasy, Kevin (University Witten/Herdecke) ;
Ayzenberg, Ilya (Sechenov First Moscow State Medical University) ;
Universitat Autònoma de Barcelona
To investigate age-related severity, patterns of retinal structural damage, and functional visual recovery in pediatric and adult cohorts of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) optic neuritis (ON). [...]
2021 - 10.1186/s12974-021-02160-9
Journal of neuroinflammation, Vol. 18 (may 2021)
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3.
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23 p, 7.5 MB |
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
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Gómez-Fernández, Paloma (University of the Basque Country) ;
Lopez de Lapuente Portilla, Aitzkoa (Lund University) ;
Astobiza, Ianire (University of the Basque Country) ;
Mena, Jorge (Instituto de Investigación Sanitaria Biocruces Bizkaia) ;
Urtasun, Andoni (University of the Basque Country) ;
Altmann, Vivian (University of Lübeck) ;
Matesanz, Fuencisla (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Otaegui, David (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Urcelay, Elena (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Antigüedad, Alfredo (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Malhotra, Sunny (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Montalban, Xavier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Castillo-Triviño, Tamara (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Espino-Paisán, Laura (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Aktas, Orhan (Heinrich-Heine University Düsseldorf) ;
Buttmann, Mathias (Caritas Hospital) ;
Chan, Andrew (Bern University Hospital) ;
Fontaine, Bertrand (University Hospital Pitié-Salpêtrière) ;
Gourraud, Pierre-Antoine (CHU de Nantes) ;
Hecker, Michael (University of Rostock) ;
Hoffjan, Sabine (Ruhr-University Bochum) ;
Kubisch, Christian (University Medical Center Hamburg-Eppendorf) ;
Kümpfel, Tania (Ludwig-Maximilians University) ;
Luessi, Felix (University Medical Center of the Johannes Gutenberg University Mainz) ;
Zettl, Uwe K. (University of Rostock) ;
Zipp, Frauke (University Medical Center of the Johannes Gutenberg University Mainz) ;
Alloza, Iraide (Instituto de Investigación Sanitaria Biocruces Bizkaia) ;
Comabella, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lill, Christina M. (Imperial College) ;
Vandenbroeck, Koen (Ikerbasque) ;
Universitat Autònoma de Barcelona
The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0. [...]
2020 - 10.3390/cells9010175
Cells, Vol. 9 (january 2020)
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4.
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7 p, 1018.1 KB |
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients
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Sadovnick, A. Dessa (University of British Columbia) ;
Traboulsee, Anthony L. (University of British Columbia) ;
Bernales, Cecily Q. (University of British Columbia) ;
Ross, Jay P. (University of British Columbia) ;
Forwell, Amanda L. (University of British Columbia) ;
Yee, Irene M. (University of British Columbia) ;
Guillot-Noel, Lena (Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, France) ;
Fontaine, Bertrand (Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, France) ;
Cournu-Rebeix, Isabelle (Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, France) ;
Alcina, Antonio (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Fedetz, Maria (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Izquierdo, Guillermo (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Matesanz, Fuencisla (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Hilven, Kelly (University of Leuven) ;
Dubois, Bénédicte (University Hospitals Leuven (Bèlgica)) ;
Goris, An (University of Leuven) ;
Astobiza, Ianire (Achucarro Basque Center for Neuroscience) ;
Alloza, Iraide (IKERBASQUE, Basque Foundation for Science) ;
Antigüedad, Alfredo (Hospital de Basurto (Bilbao, Biscaia)) ;
Vandenbroeck, Koen (IKERBASQUE, Basque Foundation for Science) ;
Akkad, Denis A. (Ruhr University) ;
Aktas, Orhan (Heinrich Heine University) ;
Blaschke, Paul (University of Rostock) ;
Buttmann, Mathias (University of Würzburg) ;
Chan, Andrew (Bern University Hospital) ;
Epplen, Joerg T. (Ruhr University) ;
Gerdes, Lisa-Ann (Institute for Clinical Neuroimmunology, Ludwig Maximilian University) ;
Kroner, Antje (Medical College of Wisconsin) ;
Kubisch, Christian (University Medical Center Hamburg-Eppendorf) ;
Kümpfel, Tania (Ludwig Maximilian University) ;
Lohse, Peter (Institute of Laboratory Medicine and Human Genetics) ;
Rieckmann, Peter (Sozialstiftung Bamberg Hospital) ;
Zettl, Uwe K. (University of Rostock) ;
Zipp, Frauke (University Medical Center of the Johannes Gutenberg-University Mainz) ;
Bertram, Lars (Imperial College London) ;
Lill, Christina M. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fernández, Oscar (Instituto de Investigación Biomédica de Málaga) ;
Urbaneja, Patricia (Instituto de Investigación Biomédica de Málaga) ;
Leyva, Laura (Instituto de Investigación Biomédica de Málaga) ;
Alvarez-Cermeño, José C (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Arroyo, Rafael (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Garagorri, Aroa M. (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
García-Martínez, Angel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Villar, Luisa M. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Urcelay, Elena (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Malhotra, Sunny (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Montalban, Xavier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Comabella, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Berger, Thomas (Medical University of Innsbruck) ;
Fazekas, Franz (Medical University of Graz) ;
Reindl, Markus (Medical University of Innsbruck) ;
Schmied, Mascha C. (Medical University of Vienna) ;
Zimprich, Alexander (Medical University of Vienna) ;
Vilariño-Güell, Carles (University of British Columbia) ;
Universitat Autònoma de Barcelona
Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p. G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. [...]
2016 - 10.1534/g3.116.030841
G3, Vol. 6 (may 2016) , p. 2073-2079
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