Anzahl der Publikationen: 41
Zeitschriftenartikel
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
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
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
Müller-Felber, Wolfgang; Vill, K.; Schwartz, O.; Blaschek, A.; Nennstiel, U.; Schara, U.; Hoffmann, G. F.; Gläser, D.; Becker, M.; Röschinger, W.; Bernert, G.; Klein, A. und Kölbel, H.
(2021):
Neugeborenenscreening auf spinale Muskelatrophie.
In: Monatsschrift Kinderheilkunde
[PDF, 379kB]
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]
Kirschner, Janbernd; Bernert, Guenther; v der Hagen, Maja; Hahn, Andreas; Johannsen, Jessika; Klein, Andrea; Müller-Felber, Wolfgang; Ziegler, Andreas und Schara, Ulrike
(2020):
Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec. Stellungnahme der Gesellschaft für Neuropädiatrie.
In: Monatsschrift Kinderheilkunde, Bd. 168, Nr. 10: S. 938-941
Ziegler, Andreas; Wilichowski, Ekkehard; Schara, Ulrike; Hahn, Andreas; Müller-Felber, Wolfgang; Johannsen, Jessika; Hagen, Maja von der; Moers, Arpad von; Stoltenburg, Corinna; Saffari, Afshin; Walter, Maggie C.; Husain, Ralf A.; Pechmann, Astrid; Köhler, Cornelia; Horber, Veronka; Schwartz, Oliver und Kirschner, Janbernd
(2020):
Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101.
In: Nervenarzt, Bd. 91, Nr. 6: S. 518-529
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
Hahn, Andreas; Hennermann, Julia B.; Huemer, Martina; Kampmann, Christoph; Marquardt, Thorsten; Mengel, Eugen; Müller-Felber, Wolfgang; Muschol, Nicole Maria; Rohrbach, Marianne und Stehling, Florian
(2020):
Diagnosis and Care of Infants and Children with Pompe Disease.
In: Klinische Pädiatrie, Bd. 232, Nr. 2: S. 55-61
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
Dittrich, Sven; Graf, Erika; Trollmann, Regina; Neudorf, Ulrich; Schara, Ulrike; Heilmann, Antje; Hagen, Maja von der; Stiller, Brigitte; Kirschner, Janbernd; Dalla Pozza, Robert; Müller-Felber, Wolfgang; Weiss, Katja; Au, Katja von; Khalil, Markus; Motz, Reinald; Korenke, Christoph; Lange, Martina; Wilichowski, Ekkehard; Pattathu, Joseph; Ebinger, Friedrich; Wiechmann, Nicola; Schröder, Rolf; Halbfass, Julia; Webinger, Jasmin; Weise, Anja; Hermdobler, Franz; Nerad, Mateja; Shabaiek, Amira; Akin-Erdinc, Gueler; Greim, Verena; Böcker, Dorothee; Siepe, Stefanie; Schneider-Fuchs, Sabine; Egenhofer-Kummert, Brigitte; Burkhardt, Barbara; Neumann, Elena; Korinthenberg, Rudolf; Apitz, Christian; Freund, Matthias; Schumacher, Michael; Gravenhorst, Verena; Deppe, Daniela und Eichhorn, Joachim
(2019):
Effect and safety of treatment with ACE-inhibitor Enalapril and beta-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.
In: Orphanet Journal of Rare Diseases, Bd. 14, 105
Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute und Koelbel, Heike
(2019):
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
In: Orphanet Journal of Rare Diseases, Bd. 14, 179
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]
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
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
Baumann, Matthias; Gumpold, Christiane; Müller-Felber, Wolfgang; Schoserd, Benedikt; Haberler, Christine; Löscher, Wolfgang N.; Rostasy, Kevin; Fischer, Michael B. und Wanschitz, Julia V.
(2018):
Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis.
In: Neuromuscular Disorders, Bd. 28, Nr. 12: S. 973-985
Demmelmair, Hans; MacDonald, Anita; Kotzaeridou, Urania; Burgard, Peter; Gonzalez-Lamuno, Domingo; Verduci, Elvira; Ersoy, Melike; Gokcay, Gulden; Alyanak, Behiye; Reischl, Eva; Müller-Felber, Wolfgang; Faber, Fabienne Lara; Handel, Uschi; Paci, Sabrina und Koletzko, Berthold
(2018):
Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study.
In: Nutrients, Bd. 10, Nr. 12, 1944
[PDF, 2MB]
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
Hinze, Claas H.; Oommen, Prasad T.; Dressler, Frank; Urban, Andreas; Weller-Heinemann, Frank; Speth, Fabian; Lainka, Elke; Brunner, Jürgen; Fesq, Heike; Foell, Dirk; Müller-Felber, Wolfgang; Neudorf, Ulrich; Rietschel, Christoph; Schwarz, Tobias; Schara, Ulrike und Haas, Johannes-Peter
(2018):
Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria.
In: Pediatric Rheumatology
16:40
[PDF, 642kB]
Hübner, Johannes; Kruse, Bernd; Christen, Hans-Jürgen; Weidenmann, Jürgen; Weiner, Viktoria; Schöne-Bake, Jan-Christoph; Eichinger, Anna; Diedrich, Sabine und Müller-Felber, Wolfgang
(2017):
Acute Flaccid Myelitis in German Children in 2016 - the Return of Polio?
In: Deutsches Ärzteblatt international, Bd. 114, Nr. 33-34: S. 551-557
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
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
Lukacs, Zoltan; Cobos, Paulina Nieves; Wenninger, Stephan; Willis, Tracey A.; Guglieri, Michela; Roberts, Marc; Quinlivan, Rosaline; Hilton-Jones, David; Evangelista, Teresinha; Zierz, Stephan; Schlotter-Weigel, Beate; Walter, Maggie C.; Reilich, Peter; Klopstock, Thomas; Deschauer, Marcus; Straub, Volker; Müller-Felber, Wolfgang und Schoser, Benedikt
(2016):
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
In: Neurology, Bd. 87, Nr. 3: S. 295-298
Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Müller-Felber, Wolfgang; Haack, Tobias B.; Ploski, Rafal; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix und Prokisch, Holger
(2016):
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
In: American Journal of Human Genetics, Bd. 99, Nr. 4: S. 894-902
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]
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
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