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Anzahl der Publikationen: 48
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]
Tacke, Moritz; Janson, Katharina; Vill, Katharina; Heinen, Florian; Gerstl, Lucia; Reiter, Karl und Borggraefe, Ingo
(17. März 2022):
Effects of a reduction of the number of electrodes in the EEG montage on the number of identified seizure patterns.
In: Scientific Reports, Bd. 12
[PDF, 1MB]
Vill, Katharina; Müller‐Felber, Wolfgang; Landfarth, Timotheus; Köppl, Christian; Herzig, Nadine; Knerr, Christine; Holla, Heike; Steidle, Günther; Harms, Erik und Hohenfellner, Katharina
(2022):
Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients.
In: Journal of Inherited Metabolic Disease, Bd. 45, Nr. 2: S. 183-191
[PDF, 1MB]
Westphal, Dominik S.; Mastantuono, Elisa; Seidel, Heide; Riedhammer, Korbinian M.; Hahn, Andreas; Vill, Katharina und Wagner, Matias
(2022):
There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.
In: Gene, Bd. 814, 146167
Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Schwersenz, Inge; Walter, Maggie C.; Baumann, Matthias; Baumgartner, Manuela; Deschauer, Marcus; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; Illsinger, Sabine; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; Müller, Monika; Moers, Arpad von; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Stögmann, Eva; Trollmann, Regina; Vill, Katharina; Weiß, Claudia; Wiegand, Gert; Ziegler, Andreas; Lochmüller, Hanns und Kirschner, Janbernd
(2022):
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
In: Brain, Bd. 146, Nr. 2: S. 668-677
Pechmann, Astrid; Behrens, Max; Doernbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zoeller, Daniela; Bernert, Gunther; Hagenacker, Tim; Walter, Maggie C.; Bertsche, Astrid; Vill, Katharina; Baumann, Matthias; Baumgartner, Manuela; Cordts, Isabell; Eisenkoelbl, Astrid; Flotats-Bastardas, Marina; Friese, Johannes; Guenther, Rene; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; Illsinger, Sabine; Jahnel, Jörg; Johannsen, Jessika; Koehler, Cornelia; Koelbel, Heike; Mueller, Monika; Moers, Arpad von; Schwerin-Nagel, Annette; Reihle, Christof; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Trollmann, Regina; Weiler, Markus; Weiss, Claudia; Wiegand, Gert; Wilichowski, Ekkehard; Ziegler, Andreas; Lochmueller, Hanns und Kirschner, Janbernd
(2022):
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
In: Orphanet Journal of Rare Diseases, Bd. 17, Nr. 1, 384
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
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
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
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
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
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
Mirza-Schreiber, Nazanin 
ORCID: https://orcid.org/0000-0003-0836-8267; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252
(2021):
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
In: Brain, Bd. 145, Nr. 2: S. 644-654
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-0836-8267; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette ORCID: https://orcid.org/0000-0001-6645-0985; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252
(2021):
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
In: Brain, Bd. 145, Nr. 2: S. 644-654
[PDF, 1MB]
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
Borner, Corinna; Urban, Giada; Beaulieu, Louis-David; Sollmann, Nico; Krieg, Sandro M.; Straube, Andreas; Renner, Tabea; Schandelmaier, Paul; Lang, Magdalena; Lechner, Matthias; Vill, Katharina; Gerstl, Lucia; Heinen, Florian; Landgraf, Mirjam N. und Bonfert, Michaela
(2021):
The bottom-up approach: Non-invasive peripheral neurostimulation methods to treat migraine: A scoping review from the child neurologist's perspective.
In: European Journal of Paediatric Neurology, Bd. 32: S. 16-28
Fröba-Pohl, Alexandra; Mühling, Jakob; Vill, Katharina; Grote, Veit; Komm, Tim; Seitz, Dorothee; Kappler, Roland und von Schweinitz, Dietrich
(2021):
Lymphatic Leakage after Surgery for Neuroblastoma: A Rare Complication?
In: European Journal of Pediatric Surgery, Bd. 31, Nr. 2: S. 140-146
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
Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad
(2021):
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
In: Brain, Bd. 145, Nr. 2: S. 644-654
[PDF, 1MB]
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
Tacke, Moritz; Janson, Katharina; Vill, Katharina; Heinen, Florian; Gerstl, Lucia; Reiter, Karl; Remi, Jan und Borggraefe, Ingo
(2021):
The influence of information about the circumstances of EEG recordings on the ability to identify seizure patterns.
In: Seizure-European Journal of Epilepsy, Bd. 88: S. 125-129
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]
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
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]
Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah; Bennett, James T. und Sahin, Mustafa
(2020):
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
In: Brain, Bd. 143: S. 2929-2944
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
Czibere, Ludwig; Burggraf, Siegfried; Fleige, Tobias; Glueck, Birgit; Keitel, Lisa Marie; Landt, Olfert; Durner, Jürgen; Roeschinger, Wulf; Hohenfellner, Katharina; Wirth, Brunhilde; Müller-Felber, Wolfgang; Vill, Katharina und Becker, Marc
(2020):
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
In: European Journal of Human Genetics, Bd. 28, Nr. 1: S. 23-30
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
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
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]
Hölz, Hannes; Herdl, Christian; Gerstl, Lucia; Tacke, Moritz; Vill, Katharina; Stuelpnagel, Celina von; Rost, Imma; Hoertnagel, Konstanze; Abicht, Angela; Hollizeck, Sebastian; Larsen, Line H. G. und Borggraefe, Ingo
(2019):
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
In: Clinical Eeg and Neuroscience, Bd. 51, Nr. 1: S. 61-69
Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Müller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda und Schuele, Rebecca
(2019):
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
In: Nature Communications, Bd. 10, 4790
[PDF, 2MB]
Gerstl, Lucia; Weinberger, Raphael; Heinen, Florian; Bonfert, Michaela V.; Borggraefe, Ingo; Schröder, A. Sebastian; Tacke, Moritz; Landgraf, Mirjam N.; Vill, Katharina; Kurnik, Karin; Sorg, Anna-Lisa und Olivieri, Martin
(2019):
Arterial ischemic stroke in infants, children, and adolescents: results of a Germany-wide surveillance study 2015-2017.
In: Journal of Neurology, Bd. 266, Nr. 12: S. 2929-2941
Hohenfellner, Katharina; Bergmann, Carsten; Fleige, Tobias; Janzen, Nils; Burggraf, Siegfried; Olgemoeller, Bernd; Gahl, William A.; Czibere, Ludwig; Froschauer, Sonja; Roeschinger, Wulf; Vill, Katharina; Harms, Erik und Nennstiel, Uta
(2019):
Molecular based newborn screening in Germany: Follow-up for cystinosis.
In: Molecular Genetics and Metabolism Reports, Bd. 21, 100514
Alhaddad, Bader; Schossig, Anna; Haack, Tobias B.; Kovacs-Nagy, Reka; Braunisch, Matthias C.; Makowski, Christine; Senderek, Jan; Vill, Katharina; Müller-Felber, Wolfgang; Strom, Tim M.; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole; Desguerre, Isabelle; Wörmann, Friedrich; Rotig, Agnes; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, Rene G.; Mayr, Johannes A.; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelmaier, Felix und Koch, Johannes
(2018):
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
In: Neuropediatrics, Bd. 49, Nr. 5: S. 330-338
Tacke, Moritz; Rupp, Nina; Gerstl, Lucia; Heinen, Florian; Vill, Katharina; Bonfert, Michaela; Neubauer, Bernd Axel; Bast, Thomas und Borggraefe, Ingo
(2018):
Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology.
In: Acta Neurologica Scandinavica, Bd. 138, Nr. 6: S. 475-481
Tacke, Moritz; Borggraefe, Ingo; Gerstl, Lucia; Heinen, Florian; Vill, Katharina; Bonfert, Michaela; Bast, Thomas; Neubauer, Bernd Axel; Baumeister, Friedrich; Baethmann, Martina; Bentele, Karl; Blank, Christian; Blank, Harald M.; Bode, Harald; Bosch, Friedrich; Brandl, Ulrich; Brockmann, Knut; Dahlem, Peter; Ernst, Jan-Peter; Feldmann, Evemarie; Fiedler, Andreas; Gerigk, Michael; Hess, Sören; Hikel, Christiane; Hoffmann, Hans -Georg; Kieslich, Matthias; Klepper, Jörg; Kluger, Gerhard; Koch, Hartmut; Koch, Walter; Korinthenberg, Rudolf; Krois, Ilona; Kuehne, Hermann; Kurlemann, Gerhard; Mandl, Michaela; Mause, Ulrike; Navratil, Peter; Opp, Joachim; Penzien, Johann; Prietsch, Viola; Quattlaender, Axel; Rating, Dietz; Schara, Ulrike; Shamdeen, Mohammed G.; Sprinz, Andreas; Wendker-Magrabi, Hildegard; Stephani, Ulrich; Muhle, Hiltrud; Strassburg, Hans-Michael; Toepke, Baerbel; Trollmann, Regina; Tuschen-Hofstaetter, Elisabeth; Waltz, Stephan; Weber, Gabriele; Wien, Frank U.; Wolff', Markus; Polster, Tilman; Freitag, Hedwig; Soenmez, Otzcam; Reinhardt, Klaus; Traus, Marion und Hoovey, Zeecam
(2018):
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.
In: Seizure-European Journal of Epilepsy, Bd. 56: S. 115-120
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
Gerstl, Lucia; Weinberger, Raphael; Kries, Rüdiger von; Heinen, Florian; Schröder, A. Sebastian; Bonfert, Michaela V.; Borggraefe, Ingo; Tacke, Moritz; Vill, Katharina; Landgraf, Mirjam N.; Kurnik, Karin und Olivieri, Martin
(2018):
Risk factors in childhood arterial ischaemic stroke: Findings from a population-based study in Germany.
In: European Journal of Paediatric Neurology, Bd. 22, Nr. 3: S. 380-386
Landgraf, Mirjam N.; Albers, Lucia; Rahmsdorf, Birte; Vill, Katharina; Gerstl, Lucia; Lippert, Michaela und Heinen, Florian
(2018):
Fetal alcohol spectrum disorders (FASD) - What we know and what we should know - The knowledge of German health professionals and parents.
In: European Journal of Paediatric Neurology, Bd. 22, Nr. 3: S. 507-515
Gerstl, Lucia; Weinberger, Raphael; Kries, Rüdiger von; Heinen, Florian; Schröder, Andreas Sebastian; Bonfert, Michaela Veronika; Borggraefe, Ingo; Tacke, Moritz; Vill, Katharina; Landgraf, Mirjam N.; Kurnik, Karin und Olivieri, Martin
(2018):
Symptom patterns in childhood arterial ischemic stroke: Analysis of a population-based study in Germany.
In: Klinische Pädiatrie, Bd. 230, Nr. 6: S. 319-325
Bonfert, Michaela V.; Badura, Katharina; Gerstl, Julia; Borggraefe, Ingo; Heinen, Florian; Schröder, Sebastian; Olivieri, Martin; Weinberger, Raphael; Landgraf, Mirjam N.; Vill, Katharina; Tacke, Moritz; Berweck, Steffen; Reiter, Karl; Hoffmann, Florian; Nicolai, Thomas und Gerstl, Lucia
(2018):
Childhood Stroke: Awareness, Interest, and Knowledge Among the Pediatric Community.
In: Frontiers in Pediatrics, Bd. 6, 182
[PDF, 842kB]
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
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
Müller-Felber, Wolfgang und Vill, Katharina
(2017):
Clinical Neurophysiology in Neuromuscular Disorders: Old Fashioned or Still Relevant?
In: Neuropediatrics, Bd. 48, Nr. 4: S. 221-225
Zech, Michael; Boesch, Sylvia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Laccone, Franco; Pilshofer, Veronika; Ceballos-Baumann, Andres; Alhaddad, Bader; Berutti, Riccardo; Poewe, Werner; Haack, Tobias B.; Haslinger, Bernhard; Strom, Tim M. und Winkelmann, Juliane
(2016):
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
In: American Journal of Human Genetics, Bd. 99, Nr. 6: S. 1377-1387
Gerstl, Lucia; Olivieri, Martin; Heinen, Florian; Borggraefe, Ingo; Schroeder, Andreas Sebastian; Tacke, Moritz; Vill, Katharina; Dalla-Pozza, Robert; Reiter, Karl; Lutz, Juergen; Brueckmann, Hartmut und Janssen, Hendrik
(2016):
Successful mechanical thrombectomy in a three-year-old boy with cardioembolic occlusion of both the basilar artery and the left middle cerebral artery.
In: European Journal of Paediatric Neurology, Bd. 20, Nr. 6: S. 962-965