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Anzahl der Publikationen: 47
Zeitschriftenartikel
Dzinovic, Ivana; Graf, Elisabeth; Brugger, Melanie; Berutti, Riccardo; Prihodova, Iva; Blaschek, Astrid; Winkelmann, Juliane; Jech, Robert; Vill, Katharina und Zech, Michael
(2023):
Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.
In: Movement Disorders Clinical Practice, Bd. 10, Nr. 7: S. 1159-1161
[PDF, 562kB]
Weiß, Claudia; Ziegler, Andreas; Becker, Lena-Luise; Johannsen, Jessika; Brennenstuhl, Heiko; Schreiber, Gudrun; Flotats-Bastardas, Marina; Stoltenburg, Corinna; Hartmann, Hans; Illsinger, Sabine; Denecke, Jonas; Pechmann, Astrid; Müller-Felber, Wolfgang; Vill, Katharina; Blaschek, Astrid; Smitka, Martin; Stam, Lieske van der; Weiss, Katja; Winter, Benedikt; Goldhahn, Klaus; Plecko, Barbara; Horber, Veronka; Bernert, Günther; Husain, Ralf A.; Rauscher, Christian; Trollmann, Regina; Garbade, Sven F.; Hahn, Andreas; Hagen, Maja von der und Kaindl, Angela M.
(2022):
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
In: Lancet Child & Adolescent Health, Bd. 6, Nr. 1: S. 17-27
Pilz, Franziska; Vill, Katharina; Rawer, Rainer; Bonfert, Michaela; Tacke, Moritz; Heussinger, Nicole; Müller-Felber, Wolfgang und Blaschek, Astrid
(2022):
Mechanography in children: pediatric references in postural control.
In: Journal of Musculoskeletal & Neuronal Interactions, Bd. 22, Nr. 4: S. 431-454
Kölbel, Heike; Modler, Laura; Blaschek, Astrid; Schara-Schmidt, Ulrike; Vill, Katharina; Schwartz, Oliver und Müller-Felber, Wolfgang
(2022):
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening.
In: Children, Bd. 9, Nr. 12, 1829
Blaschek, Astrid; Koelbel, Heike; Schwartz, Oliver; Koehler, Cornelia; Glaeser, Dieter; Eggermann, Katja; Hannibal, Iris; Schara-Schmidt, Ulrike; Mueller-Felber, Wolfgang und Vill, Katharina
(2022):
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 5: S. 597-605
Schwartz, Oliver; Koelbel, Heike; Blaschek, Astrid; Glaeser, Dieter; Burggraf, Siegfried; Roeschinger, Wulf; Schara, Ulrike; Mueller-Felber, Wolfgang und Vill, Katharina
(2022):
Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 3: S. 389-396
Dowling, James J.; Mueller-Felber, Wolfgang; Smith, Barbara K.; Bonnemann, Carsten G.; Kuntz, Nancy L.; Muntoni, Francesco; Servais, Laurent; Alfano, Lindsay N.; Beggs, Alan H.; Bilder, Deborah A.; Blaschek, Astrid; Duong, Tina; Graham, Robert J.; Jain, Minal; Lawlor, Michael W.; Lee, Jun; Coats, Julie; Lilien, Charlotte; Lowes, Linda P.; MacBean, Victoria; Neuhaus, Sarah; Noursalehi, Mojtaba; Pitts, Teresa; Finlay, Caroline; Christensen, Sarah; Rafferty, Gerrard; Seferian, Andreea M.; Tsuchiya, Etsuko; James, Emma S.; Miller, Weston; Sepulveda, Bryan; Vila, Maria Candida; Prasad, Suyash; Rico, Salvador und Shieh, Perry B.
(2022):
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 4: S. 503-516
Blaschek, Astrid; Hesse, Nikolas; Warken, Birgit; Vill, Katharina; Well, Therese; Hodek, Claudia; Heinen, Florian; Mueller-Felber, Wolfgang und Schroeder, Andreas Sebastian
(2022):
Quantitative Motion Measurements Based on Markerless 3D Full-Body Tracking in Children with SMA Highly Correlate with Standardized Motor Assessments.
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 1: S. 121-128
Wendel, Eva Maria; Thonke, Helen Sophie; Bertolini, Annikki; Baumann, Matthias; Blaschek, Astrid; Merkenschlager, Andreas; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Pohl, Daniela; Pritsch, Martin; Schanda, Kathrin; Schimmel, Mareike; Thiels, Charlotte; Waltz, Stephan; Wiegand, Gert; Anlar, Banu; Barisic, Nina; Blank, Christian; Breu, Markus; Broser, Philip; Della Marina, Adela; Diepold, Katharina; Eckenweiler, Matthias; Eisenkoelbl, Astrid; Freilinger, Michael; Gruber-Sedlmayr, Ursula; Hackenberg, Annette; Iff, Tobias; Knierim, Ellen; Koch, Johannes; Kutschke, Georg; Leiz, Steffen; Lischetzki, Grischa; Nosadini, Margherita; Pschibul, Alexander; Reiter-Fink, Edith; Rohrbach, Doris; Salandin, Michela; Sartori, Stefano; Schlump, Jan-Ulrich; Stoffels, Johannes; Strautmanis, Jurgis; Tibussek, Daniel; Tuengler, Victoria; Utzig, Norbert; Reindl, Markus und Rostasy, Kevin
(2022):
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
In: Neurology: Neuroimmunology & Neuroinflammation, Bd. 9, Nr. 6, e200035
Della Marina, Adela; Bertolini, Annikki; Wegener-Panzer, Andreas; Flotats-Bastardas, Marina; Reinhardt, Tabea; El Naggar, Ines; Distelmaier, Felix; Blaschek, Astrid; Schara-Schmidt, Ulrike; Brunet, Theresa; Wagner, Matias; Smirnov, Dimitri; Prokisch, Holger; Wortmann, Saskia B. und Rostasy, Kevin
(2022):
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially.
In: European Journal of Paediatric Neurology, Bd. 41: S. 27-35
Alroughani, Raed; Huppke, Peter; Mazurkiewicz-Beldzinska, Maria; Blaschek, Astrid; Valis, Martin; Aaen, Gregory; Pultz, Joe; Peng, Xiaomei und Beynon, Vanessa
(4. Januar 2021):
Delayed-Release Dimethyl Fumarate Safety and Efficacy in Pediatric Patients With Relapsing-Remitting Multiple Sclerosis.
In: Frontiers in Neurology, Bd. 11, 606418
[PDF, 3MB]
Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jürgen; Eggermann, Katja; Olgemoeller, Bernhard; Harms, Erik; Schara, Ulrike; Koelbel, Heike und Mueller-Felber, Wolfgang
(2021):
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 153
Bonfert, Michaela V. 
ORCID: https://orcid.org/0000-0003-0995-9050; Sollmann, Nico; Renner, Tabea; Börner, Corinna; Urban, Giada; Schandelmaier, Paul; Hannibal, Iris; Huß, Kristina; Parisi, Carmen; Gerstl, Lucia; Vill, Katharina; Blaschek, Astrid; Koenig, Helene; Klose, Birgit; Heinen, Florian; Landgraf, Mirjam N. und Albers, Lucia
(2021):
Burden of disease and lifestyle habits in adolescents and young adults prone to frequent episodic migraine: A secondary comparative analysis.
In: Journal of Child Health Care, Bd. 26, Nr. 2, 13674935211008712: S. 215-227
[PDF, 598kB]
ORCID: https://orcid.org/0000-0003-0995-9050; Sollmann, Nico; Renner, Tabea; Börner, Corinna; Urban, Giada; Schandelmaier, Paul; Hannibal, Iris; Huß, Kristina; Parisi, Carmen; Gerstl, Lucia; Vill, Katharina; Blaschek, Astrid; Koenig, Helene; Klose, Birgit; Heinen, Florian; Landgraf, Mirjam N. und Albers, Lucia
(2021):
Burden of disease and lifestyle habits in adolescents and young adults prone to frequent episodic migraine: A secondary comparative analysis.
In: Journal of Child Health Care, Bd. 26, Nr. 2, 13674935211008712: S. 215-227
[PDF, 598kB]
Blaschek, Astrid; Bertolini, Annikki; Koukou, Geogia; Wendel, Eva-Maria und Rostasy, Kevin
(2021):
Praxisrelevante autoimmune Erkrankungen des zentralen Nervensystems in der Pädiatrie: frühe Diagnose und adäquater Therapiebeginn.
In: Nervenarzt, Bd. 93, Nr. 2: S. 151-157
Blaschek, Astrid; Rodrigues, Martin; Rawer, Rainer; Müller, Christine; Ille, Lena; Schröder, Sebastian; Idriess, Mohamed; Müller-Felber, Wolfgang und Vill, Katharina
(2021):
Jumping Mechanography is a Suitable Complementary Method to Assess Motor Function in Ambulatory Boys with Duchenne Muscular Dystrophy.
In: Neuropediatrics, Bd. 52, Nr. 6: S. 455-461
Koelbel, Heike; Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Nennstiel, Uta; Schara-Schmidt, Ulrike; Hoffmann, Georg F.; Glaeser, Dieter; Roeschinger, Wulf; Bernert, Guenther; Klein, Andrea und Mueller-Felber, Wolfgang
(2021):
Neugeborenenscreeningprogramm für die spinale Muskelatrophie.
In: Nervenarzt, Bd. 93, Nr. 2: S. 135-141
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; Spaendonk, Rosalina M. L. van; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; Grauw, Ton de; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I.; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; Warrenburg, Bart P. van de; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I.; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; Knaap, Marjo S. van der; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole I. und Bernard, Genevieve
(2021):
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
In: Journal of Clinical Endocrinology & Metabolism, Bd. 106, Nr. 2, E660-E674
Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; Lee, Robin van der; Karnebeek, Clara D. van; Meitinger, Thomas; Krageloh-Mann, Ingeborg und Vill, Katharina
(2021):
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
In: Brain, Bd. 144: S. 411-419
Saffari, Afshin; Cannet, Claire; Blaschek, Astrid; Hahn, Andreas; Hoffmann, Georg F.; Johannsen, Jessika; Kirsten, Romy; Kockaya, Musa; Kölker, Stefan; Müller-Felber, Wolfgang; Roos, Andreas; Schäfer, Hartmut; Schara, Ulrike; Spraul, Manfred; Trefz, Friedrich K.; Vill, Katharina; Wick, Wolfgang; Weiler, Markus; Okun, Jürgen G. und Ziegler, Andreas
(2021):
H-1-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 441
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Disteimaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V.; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane
(2020):
Monogenic variants in dystonia: an exome-wide sequencing study.
In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schroeder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaefa; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Poelsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane
(2020):
Monogenic variants in dystonia: an exome-wide sequencing study.
In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918
[PDF, 1MB]
Jarius, Sven; Lechner, Christian; Wendel, Eva M.; Baumann, Matthias; Breu, Markus; Schimmel, Mareike; Karenfort, Michael; Marina, Adela Della; Merkenschlager, Andreas; Thiels, Charlotte; Blaschek, Astrid; Salandin, Michela; Leiz, Steffen; Leypoldt, Frank; Pschibul, Alexander; Hackenberg, Annette; Hahn, Andreas; Syrbe, Steffen; Strautmanis, Jurgis; Haeusler, Martin; Krieg, Peter; Eisenkoelbl, Astrid; Stoffels, Johannes; Eckenweiler, Matthias; Ayzenberg, Ilya; Haas, Jürgen; Hoeftberger, Romana; Kleiter, Ingo; Korporal-Kuhnke, Mirjam; Ringelstein, Marius; Ruprecht, Klemens; Siebert, Nadja; Schanda, Kathrin; Aktas, Orhan; Paul, Friedemann; Reindl, Markus; Wildemann, Brigitte und Rostasy, Kevin
(2020):
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.
In: Journal of Neuroinflammation, Bd. 17, Nr. 1, 262
Blaschek, Astrid; Rodrigues, Martin; Ille, Lena; Idriess, Mohammed; Well, Therese; Warken, Birgit; Müller, Christine; Hannibal, Iris; Tacke, Moritz; Müller-Felber, Wolfgang und Vill, Katharina
(2020):
Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy?
In: Neuropediatrics, Bd. 51, Nr. 05: S. 342-348
Zech, Michael; Brunet, Theresa; Skorvanek, Matej; Blaschek, Astrid; Vill, Katharina; Hanker, Britta; Huning, Irina; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Ruzicka, Evzen; Kamsteeg, Erik-Jan; Smagt, Jasper J. van der; Wagner, Matias; Jech, Robert und Winkelmann, Juliane
(2020):
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
In: Parkinsonism & Related Disorders, Bd. 77: S. 70-75
Wendel, Eva-Maria; Baumann, Matthias; Barisic, Nina; Blaschek, Astrid; Koch, Eliana Coelho de Oliveira; Della Marina, Adela; Diepold, Katharina; Hackenberg, Annette; Hahn, Andreas; Kalle, Thekla von; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Leiz, Steffen; Merkenschlager, Andreas; Nosadini, Margherita; Sartori, Stefano; Schanda, Kathrin; Schimmel, Mareike; Seemann, Larissa; Tuengler, Victoria; Waltz, Stephan; Wegener-Panzer, Andreas; Wiegand, Gert; Reindl, Markus und Rostasy, Kevin
(2020):
High association of MOG-IgG antibodies in children with bilateral optic neuritis.
In: European Journal of Paediatric Neurology, Bd. 27: S. 86-93
Blaschek, Astrid; Vill, Katharina; Müller-Felber, Wolfgang und Schara, Ulrike
(2020):
Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter — Große Hoffnungen und unbekannte Risiken.
In: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, Bd. 63, Nr. 7: S. 891-897
[PDF, 735kB]
Parisi, Carmen; Hesse, Nikolas; Tacke, Uta; Pujades Rocamora, Sergi; Blaschek, Astrid; Hadders-Algra, Mijna; Black, Michael J.; Heinen, Florian; Müller-Felber, Wolfgang und Schroeder, A. Sebastian
(2020):
Analyse der Spontanmotorik im 1. Lebensjahr: Markerlose 3-D-Bewegungserfassung zur Früherkennung von Entwicklungsstörungen.
In: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, Bd. 63, Nr. 7: S. 881-890
[PDF, 2MB]
Bartels, Frederik; Nobis, Katharina; Cooper, Graham; Wendel, Eva; Cleaveland, Robert; Bajer-kornek, Barbara; Blaschek, Astrid; Schimmel, Mareike; Blankenburg, Markus; Baumann, Matthias; Karenfort, Michael; Finke, Carsten und Rostasy, Kevin
(2019):
Childhood multiple sclerosis is associated with reduced brain volumes at first clinical presentation and brain growth failure.
In: Multiple Sclerosis Journal, Bd. 25, Nr. 7: S. 927-936
Oertel, Frederike C.; Outteryck, Olivier; Knier, Benjamin; Zimmermann, Hanna; Borisow, Nadja; Bellmann-Strobl, Judith; Blaschek, Astrid; Jarius, Sven; Reindl, Markus; Ruprecht, Klemens; Meinl, Edgar; Hohlfeld, Reinhard; Paul, Friedemann; Brandt, Alexander U.; Kuempfel, Tania und Havla, Joachim
(2019):
Optical coherence tomography in myelin-oligodendrocyte-glycoprotein antibody-seropositive patients: a longitudinal study.
In: Journal of Neuroinflammation, Bd. 16, 154
[PDF, 868kB]
Gravesande, Karin; Blaschek, Astrid; Calabrese, Pasquale; Rostasy, Kevin; Huppke, Peter; Kessler, Josef J.; Kalbe, Elke; Mall, Volker; Kraus, V.; Dornfeld, E.; Elpers, C.; Lohmann, H.; Weddige, A.; Hagspiel, S.; Kirschner, J.; Brehm, M.; Blank, C.; Schubert, J.; Schimmel, M.; Pachee, S.; Mohrbach, M.; Karenfort, M.; Kamp, G.; Luecke, T.; Neumann, H.; Lutz, S.; Gierse, A.; Sievers, S.; Schiffinann, H.; Soye, I. de; Trollmann, R.; Candova, A.; Rosner, M.; Neu, A.; Romer, G.; Seidel, U.; John, R.; Hofmann, C.; Schulz-Kinder, S.; Bertolatus, A.; Scheidtmann, K.; Lasogga, R.; Leiz, S.; Alber, M.; Kranz, J.; Bajer-Kornek, B.; Seidl, R. und Novak, A.
(2019):
Fatigue and depression predict health-related quality of life in patients with pediatric-onset multiple sclerosis.
In: Multiple Sclerosis and Related Disorders, Bd. 36, UNSP 101368
Milos, Ruxandra-Iulia; Szimacsek, Martin; Leutmezer, Fritz; Rostasy, Kevin; Blaschek, Astrid; Karenfort, Michael; Schimmel, Mareike; Pritsch, Martin; Gravesande, Karin Storm Van's; Weber, Michael; Schmoeger, Michaela; Seidl, Rainer; Prayer, Daniela und Kornek, Barbara
(2018):
Clinical and magnetic resonance imaging features of children, adolescents, and adults with a clinically isolated syndrome.
In: European Journal of Paediatric Neurology, Bd. 22, Nr. 6: S. 1087-1094
Blaschek, Astrid; Kries, Rüdiger V.; Lohse, Peter; Huss, Kristina; Vill, Katharina; Belohradsky, Bernd H.; Heinen, Florian; Müller-Felber, Wolfgang und Kuempfel, Tania
(2018):
TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis.
In: European Journal of Paediatric Neurology, Bd. 22, Nr. 1: S. 72-81
Baumann, Matthias; Grams, Astrid; Djurdjevic, Tanja; Wendel, Eva-Maria; Lechner, Christian; Behring, Bettina; Blaschek, Astrid; Diepold, Katharina; Eisenkoelbl, Astrid; Fluss, Joel; Karenfort, Michael; Koch, Johannes; Konuskan, Bahadir; Leiz, Steffen; Merkenschlager, Andreas; Pohl, Daniela; Schimmel, Mareike; Thiels, Charlotte; Kornek, Barbara; Schanda, Kathrin; Reindl, Markus und Rostasy, Kevin
(2018):
MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein.
In: Journal of Neurology, Bd. 265, Nr. 4: S. 845-855
Vill, Katharina; Müller-Felber, Wolfgang; Gläser, Dieter; Kuhn, Marius; Teusch, Veronika; Schreiber, Herbert; Weis, Joachim; Klepper, Jörg; Schirmacher, Anja; Blaschek, Astrid; Wiessner, Manuela; Strom, Tim M.; Draeger, Bianca; Hofmeister-Kiltz, Kristina; Tacke, Moritz; Gerstl, Lucia; Young, Peter; Horvath, Rita und Senderek, Jan
(2018):
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
In: Human Genetics, Bd. 137, Nr. 11-12: S. 911-919
Bechtold, Susanne; Blaschek, Astrid; Müller-Felber, Wolfgang; Weissenbacher, Claudia; Roeb, Julia; Sydlik, Carmen und Schmidt, Heinrich
(2017):
Muscle Density Measurement in Duchenne Muscular Dystrophy.
In: Hormone Research in Paediatrics, Bd. 88: S. 258-259
Hennes, Eva-Maria; Baumann, Matthias; Schanda, Kathrin; Anlar, Banu; Bajer-Kornek, Barbara; Blaschek, Astrid; Brantner-Inthaler, Sigrid; Diepold, Katharina; Eisenkolbl, Astrid; Gotwald, Thaddaeus; Kuchukhidze, Georgi; Gruber-Sedlmayr, Ursula; Häusler, Martin; Höftberger, Romana; Karenfort, Michael; Klein, Andrea; Koch, Johannes; Kraus, Verena; Lechner, Christian; Leiz, Steffen; Leypoldt, Frank; Mader, Simone; Marquard, Klaus; Poggenburg, Imke; Pohl, Daniela; Pritsch, Martin; Raucherzauner, Markus; Schimmel, Mareike; Thiels, Charlotte; Tibussek, Daniel; Vieker, Silvia; Zeches, Carolin; Berger, Thomas; Reindl, Markus und Rostasy, Kevin
(2017):
Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome.
In: Neurology, Bd. 89, Nr. 9: S. 900-908
[PDF, 633kB]
Vill, Katharina; Müller-Felber, Wolfgang; Alhaddad, Bader; Strom, Tim M.; Teusch, Veronika; Weigand, Heike; Blaschek, Astrid; Meitinger, Thomas und Haack, Tobias B.
(2017):
A Homozygous Splice Variant in AP4S1 Mimicking Neurodegeneration with Brain Iron Accumulation.
In: Movement Disorders, Bd. 32, Nr. 5: S. 797-799
Vill, Katharina; Ille, Lena; Blaschek, Astrid; Rawer, Rainer; Landgraf, Mirjam N.; Gerstl, Lucia; Schröder, Sebastian A. und Müller-Felber, Wolfgang
(2017):
Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy.
In: Neuropediatrics, Bd. 48, Nr. 6: S. 420-425
Lechner, Christian; Baumann, Matthias; Hennes, Eva-Maria; Schanda, Kathrin; Marquard, Klaus; Karenfort, Michael; Leiz, Steffen; Pohl, Daniela; Venkateswaran, Sunita; Pritsch, Martin; Koch, Johannes; Schimmel, Mareike; Häusler, Martin; Klein, Andrea; Blaschek, Astrid; Thiels, Charlotte; Lücke, Thomas; Gruber-Sedlmayr, Ursula; Kornek, Barbara; Hahn, Andreas; Leypoldt, Frank; Sandrieser, Torsten; Gallwitz, Helge; Stoffels, Johannes; Korenke, Christoph; Reindl, Markus und Rostásy, Kevin
(2016):
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 87, Nr. 8: S. 897-905
[PDF, 777kB]
Spadaro, Melania; Gerdes, Lisa Ann; Krumbholz, Markus; Ertl-Wagner, Birgit; Thaler, Franziska Sabrina; Schuh, Elisabeth; Metz, Imke; Blaschek, Astrid; Dick, Andrea; Brück, Wolfgang; Hohlfeld, Reinhard; Meinl, Edgar und Kümpfel, Tania
(2016):
Autoantibodies to MOG in a distinct subgroup of adult multiple sclerosis.
In: Neurology-Neuroimmunology & Neuroinflammation, Bd. 3, Nr. 5, e257
[PDF, 747kB]
Baumann, M.; Sahin, K.; Lechner, C.; Hennes, E. M.; Schanda, K.; Mader, S.; Karenfort, M.; Selch, C.; Häusler, M.; Eisenkölbl, A.; Salandin, M.; Gruber-Sedlmayr, U.; Blaschek, Astrid; Kraus, V.; Leiz, S.; Finsterwalder, J.; Gotwald, T.; Kuchukhidze, G.; Berger, T.; Reindl, M. und Rostasy, K.
(2015):
Clinical and neuroradiological differences of paediatric acute disseminating encephalomyelitis with and without antibodies to the myelin oligodendrocyte glycoprotein.
In: Journal if neurology, neurosurgery and psychiatry, Bd. 86, Nr. 3: S. 265-272
[PDF, 856kB]
Blaschek, Astrid; Milde-Busch, Astrid; Straube, Andreas; Schankin, Christoph; Langhagen, Thyra; Jahn, Klaus; Schröder, Sebastian Andreas; Reiter, Karl; Kries, Rüdiger von und Heinen, Florian
(2012):
Self-reported muscle pain in adolescents with migraine and tension-type headache.
In: Cephalalgia, Bd. 32, Nr. 3: S. 241-249
[PDF, 133kB]
Ertl-Wagner, Birgit; Koerte, Inga; Kümpfel, Tania; Blaschek, Astrid; Laubender, Rüdiger P.; Schick, Max; Steffinger, Denise; Kaufmann, David; Heinen, Florian; Reiser, Maximilian; Alperin, Noam und Hohlfeld, Reinhard
(2012):
Non-specific alterations of craniocervical venous drainage in multiple sclerosis revealed by cardiac-gated phase-contrast MRI.
In: Multiple Sclerosis, Bd. 18, Nr. 7: S. 1000-1007
Milde-Busch, Astrid; Blaschek, Astrid; Heinen, Florian; Borggräfe, Ingo; Koerte, Inga; Straube, Andreas; Schankin, Christoph und Kries, Rüdiger von
(2011):
Associations between stress and migraine and tension-type headache: Results from a school-based study in adolescents from grammar schools in Germany.
In: Cephalalgia, Bd. 31, Nr. 7: S. 774-785
[PDF, 153kB]
Blaschek, Astrid; Lohse, P.; Huss, K.; Borggraefe, I.; Mueller-Felber, W.; Heinen, F.; Hohlfeld, R. und Kümpfel, T.
(2010):
Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis.
In: Multiple Sclerosis, Bd. 16, Nr. 12: S. 1517-1520
[PDF, 179kB]
Stülpnagel, Celina von; Reilich, Peter; Straube, Andreas; Schaefer, Jan; Blaschek, Astrid; Lee, Seung-Hee; Müller-Felber, Wolfgang; Henschel, Volkmar; Mansmann, Ulrich und Heinen, Florian
(2009):
Myofascial trigger points in children with tension-type headache: A new diagnostic and therapeutic option.
In: Journal of Child Neurology, Bd. 24, Nr. 4: S. 406-409
Stülpnagel, Celina von; Reilich, Peter; Straube, Andreas; Schäfer, Jan; Blaschek, Astrid; Lee, Seung-Hee; Müller-Felber, Wolfgang; Henschel, Volkmar; Mansmann, Ulrich und Heinen, Florian
(2009):
Myofascial Trigger Points in Children With Tension-Type Headache: A New Diagnostic and Therapeutic Option.
In: Journal of Child Neurology, Bd. 24, Nr. 4: S. 406-409
[PDF, 109kB]