Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

Autor Schoser, Benedikt, Bruno, Claudio, Schneider, Hans-Christian, Shin, Yoon S., Podskarbi, Teodor, Goldfarb, Lev, Müller-Felber, Wolfgang, Müller-Höcker, Josef
Vydáno 2008

Re: “Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy” by Wilson and Flotte

Autor Shieh, Perry B., Bönnemann, Carsten G., Müller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James J., Kuntz, Nancy L., Seferian, Andreea M.
Vydáno v Hum Gene Ther (2020)

Acute Flaccid Myelitis in German Children in 2016—the Return of Polio?

Autor Hübner, Johannes, Kruse, Bernd, Christen, Hans-Jürgen, Weidenmann, Jürgen, Weiner, Viktoria, Schöne-Bake, Jan-Christoph, Eichinger, Anna, Diedrich, Sabine, Müller-Felber, Wolfgang
Vydáno v Dtsch Arztebl Int (2017)

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

Autor Gallenmüller, Constanze, Müller-Felber, Wolfgang, Dusl, Marina, Stucka, Rolf, Guergueltcheva, Velina, Blaschek, Astrid, von der Hagen, Maja, Huebner, Angela, Müller, Juliane S., Lochmüller, Hanns, Abicht, Angela
Vydáno 2014

Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study

Autor Acsadi, Gyula, Crawford, Thomas O., Müller‐Felber, Wolfgang, Shieh, Perry B., Richardson, Randal, Natarajan, Niranjana, Castro, Diana, Ramirez‐Schrempp, Daniela, Gambino, Giulia, Sun, Peng, Farwell, Wildon
Vydáno v Muscle Nerve (2021)

High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR

Autor Czibere, Ludwig, Burggraf, Siegfried, Fleige, Tobias, Glück, Birgit, Keitel, Lisa Marie, Landt, Olfert, Durner, Jürgen, Röschinger, Wulf, Hohenfellner, Katharina, Wirth, Brunhilde, Müller-Felber, Wolfgang, Vill, Katharina, Becker, Marc
Vydáno v Eur J Hum Genet (2019)

Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study

Autor 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, Koletzko, Berthold
Vydáno v Nutrients (2018)

One Year of Newborn Screening for SMA – Results of a German Pilot Project

Autor Vill, Katharina, Kölbel, Heike, Schwartz, Oliver, Blaschek, Astrid, Olgemöller, Bernhard, Harms, Erik, Burggraf, Siegfried, Röschinger, Wulf, Durner, Jürgen, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Schara, Ulrike, Jensen, Beate, Becker, Marc, Hohenfellner, Katharina, Müller-Felber, Wolfgang
Vydáno v J Neuromuscul Dis (2019)

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?(1)

Autor Müller-Felber, Wolfgang, Vill, Katharina, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, Blaschek, Astrid, Kölbel, Heike
Vydáno v J Neuromuscul Dis (2020)

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Autor Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jürgen, Eggermann, Katja, Olgemöller, Bernhard, Harms, Erik, Schara, Ulrike, Kölbel, Heike, Müller-Felber, Wolfgang
Vydáno v Orphanet J Rare Dis (2021)

Erratum to “Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?”

Autor Müller-Felber, Wolfgang, Vill, Katharina, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, Blaschek, Astrid, Kölbel, Heike
Vydáno v J Neuromuscul Dis (2021)

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 Austri...

Autor 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, Haas, Johannes-Peter
Vydáno v Pediatr Rheumatol Online J (2018)

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Autor Geis, Tobias, Rödl, Tanja, Topaloğlu, 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, Kölbel, Heike
Vydáno v Orphanet J Rare Dis (2019)

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

Autor Lukacs, Zoltan, Nieves Cobos, Paulina, 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, Schoser, Benedikt
Vydáno v Neurology (2016)

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, dou...

Autor Dittrich, Sven, Graf, Erika, Trollmann, Regina, Neudorf, Ulrich, Schara, Ulrike, Heilmann, Antje, von der Hagen, Maja, Stiller, Brigitte, Kirschner, Janbernd, Pozza, Robert Dalla, Müller-Felber, Wolfgang, Weiss, Katja, von Au, Katja, Khalil, Markus, Motz, Reinald, Korenke, Christoph, Lange, Martina, Wilichowski, Ekkehard, Pattathu, Joseph, Ebinger, Friedrich, Wiechmann, Nicola, Schröder, Rolf
Vydáno v Orphanet J Rare Dis (2019)

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Autor Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, 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, Prokisch, Holger
Vydáno v Am J Hum Genet (2016)

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Autor Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, 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, Schüle, Rebecca
Vydáno v Nat Commun (2019)

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Autor Senderek, Jan, Bergmann, Carsten, Stendel, Claudia, Kirfel, Jutta, Verpoorten, Nathalie, De Jonghe, Peter, Timmerman, Vincent, Chrast, Roman, H. G. Verheijen, Mark, Lemke, Greg, Battaloglu, Esra, Parman, Yesim, Erdem, Sevim, Tan, Ersin, Topaloglu, Haluk, Hahn, Andreas, Müller-Felber, Wolfgang, Rizzuto, Nicolò, Fabrizi, Gian Maria, Stuhrmann, Manfred, Rudnik-Schöneborn, Sabine, Züchner, Stephan, Michael Schröder, J., Buchheim, Eckhard, Straub, Volker, Klepper, Jörg, Huehne, Kathrin, Rautenstrauss, Bernd, Büttner, Reinhard, Nelis, Eva, Zerres, Klaus
Vydáno 2003