Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

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

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

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

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

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

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

Tekijä 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
Julkaistu 2014

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

Tekijä 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
Julkaisussa 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

Tekijä 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
Julkaisussa 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

Tekijä 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
Julkaisussa Nutrients (2018)

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

Tekijä 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
Julkaisussa J Neuromuscul Dis (2019)

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

Tekijä 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
Julkaisussa J Neuromuscul Dis (2020)

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

Tekijä 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
Julkaisussa Orphanet J Rare Dis (2021)

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

Tekijä 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
Julkaisussa 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...

Tekijä 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
Julkaisussa 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

Tekijä 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
Julkaisussa Orphanet J Rare Dis (2019)

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

Tekijä 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
Julkaisussa 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...

Tekijä 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
Julkaisussa Orphanet J Rare Dis (2019)

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

Tekijä 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
Julkaisussa Am J Hum Genet (2016)

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

Tekijä 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
Julkaisussa Nat Commun (2019)

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

Tekijä 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
Julkaistu 2003