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36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
Author / Creator:Regnery, Caroline ; Kornblum, Cornelia ; Hanisch, Frank ; Vielhaber, Stefan ; Strigl-Pill, Nicola ; Grunert, Birgit ; Müller-Felber, Wolfgang ; Glocker, Franz Xaver ; Spranger, Matthias ; Deschauer, Marcus ; Mengel, Eugen ; Schoser, Benedikt
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.837-845
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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.153-153, Article 153
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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.23-30
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Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening
Author / Creator:Trollmann, Regina ; Johannsen, Jessika ; Vill, Katharina ; Köhler, Cornelia ; Hahn, Andreas ; Illsinger, Sabine ; Pechmann, Astrid ; Hagen, Maja von der ; Müller-Felber, Wolfgang
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.353-9, Article 353
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-10, Vol.10 (1), p.4790-13, Article 4790
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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, double-blind, placebo-c...
Author / Creator: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
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.105-105, Article 105
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Long-Term Socioeconomic and Neurologic Outcome for Individuals with Childhood-Onset Multiple Sclerosis
Author / Creator:Tacke, Moritz ; Hannibal, Iris ; Vill, Katharina ; Bonfert, Michaela V. ; Müller-Felber, Wolfgang ; Blaschek, Astrid
Publisher:Switzerland: MDPI AG
Journal title:Children (Basel), 2024-08, Vol.11 (8), p.1024
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Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
Author / Creator:Kölbel, Heike ; Modler, Laura ; Blaschek, Astrid ; Schara-Schmidt, Ulrike ; Vill, Katharina ; Schwartz, Oliver ; Müller-Felber, Wolfgang
Publisher:Switzerland: MDPI AG
Journal title:Children (Basel), 2022-11, Vol.9 (12), p.1829
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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.179-179, Article 179
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1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Author / Creator: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. ; Ziegler, Andreas
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-441, Article 441
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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
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2018-06, Vol.16 (1), p.40-40, Article 40
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Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines
Author / Creator:Korinthenberg, Rudolf ; Trollmann, Regina ; Plecko, Barbara ; Stettner, Georg M. ; Blankenburg, Markus ; Weis, Joachim ; Schoser, Benedikt ; Müller-Felber, Wolfgang ; Lochbuehler, Nina ; Hahn, Gabriele ; Rudnik-Schöneborn, Sabine
Publisher:Basel: MDPI AG
Journal title:Children (Basel), 2021-08, Vol.8 (8), p.687
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Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial
Author / Creator:Kirschner, Janbernd, Dr ; Schessl, Joachim, MD ; Schara, Ulrike, MD ; Reitter, Bernd, Prof ; Stettner, Georg M, MD ; Hobbiebrunken, Elke, MD ; Wilichowski, Ekkehard, Prof ; Bernert, Günther, MD ; Weiss, Simone, MD ; Stehling, Florian, MD ; Wiegand, Gert, MD ; Müller-Felber, Wolfgang, Prof ; Thiele, Simone ; Grieben, Ulrike, MD ; von der Hagen, Maja, MD ; Lütschg, Jürg, Prof ; Schmoor, Claudia, PhD ; Ihorst, Gabriele, PhD ; Korinthenberg, Rudolf, Prof
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2010-11, Vol.9 (11), p.1053-1059
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Pompe Disease: Neurology Perspectives
Author / Creator:Müller-Felber, Wolfgang, MD
Publisher:Bridgewater: EM Inc USA
Journal title:Clinical therapeutics, 2008, Vol.30, p.S17-S18
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The Pompe Registry: Centralized Data Collection to Track the Natural Course of Pompe Disease
Author / Creator:Merlini, Luciano, MD ; Kishnani, Priya, MD ; Byrne, Barry, MD, PhD ; Müller-Felber, Wolfgang, MD ; Case, Laura, PT, DPT ; Ploeg, Ans van der, MD
Publisher:Bridgewater: EM Inc USA
Journal title:Clinical therapeutics, 2008, Vol.30, p.S24-S24
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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
Author / Creator:Shieh, Perry B ; Kuntz, Nancy L ; Dowling, James J ; Müller-Felber, Wolfgang ; Bönnemann, Carsten G ; Seferian, Andreea M ; Servais, Laurent ; Smith, Barbara K ; Muntoni, Francesco ; Blaschek, Astrid ; Foley, A Reghan ; Saade, Dimah N ; Neuhaus, Sarah ; Alfano, Lindsay N ; Beggs, Alan H ; Buj-Bello, Ana ; Childers, Martin K ; Duong, Tina ; Graham, Robert J ; Jain, Minal ; Coats, Julie ; MacBean, Vicky ; James, Emma S ; Lee, Jun ; Mavilio, Fulvio ; Miller, Weston ; Varfaj, Fatbardha ; Murtagh, Michael ; Han, Cong ; Noursalehi, Mojtaba ; Lawlor, Michael W ; Prasad, Suyash ; Rico, Salvador
Publisher:England: Elsevier Limited
Journal title:Lancet neurology, 2023-12, Vol.22 (12), p.1125-1139
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Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Author / Creator:Mercuri, Eugenio ; Vilchez, Juan J ; Boespflug-Tanguy, Odile ; Zaidman, Craig M ; Mah, Jean K ; Goemans, Nathalie ; Müller-Felber, Wolfgang ; Niks, Erik H ; Schara-Schmidt, Ulrike ; Bertini, Enrico ; Comi, Giacomo P ; Mathews, Katherine D ; Servais, Laurent ; Vandenborne, Krista ; Johannsen, Jessika ; Messina, Sonia ; Spinty, Stefan ; McAdam, Laura ; Selby, Kathryn ; Byrne, Barry ; Laverty, Chamindra G ; Carroll, Kevin ; Zardi, Giulia ; Cazzaniga, Sara ; Coceani, Nicoletta ; Bettica, Paolo ; McDonald, Craig M ; Acsadi, Gyula ; Baranello, Giovanni ; Blaschek, Astrid ; Brandsema, John ; Brogna, Claudia ; Bruno, Claudio ; Connolly, Anne ; de Groot, Imelda ; De Waele, Liesbeth ; Finanger, Erika ; Finkel, Richard ; Gidaro, Teresa ; Guglieri, Michaela ; Harper, Amy ; Lopez Lobato, Mercedes ; Madruga Garrido, Marcos ; Magri, Francesca ; Manousakis, Georgios ; Masson, Riccardo ; Monduy, Migvis ; Muelas Gomez, Nuria ; Munell, Francina ; Nascimento, Andres ; Nevo, Yoram ; Pereon, Yann ; Phan, Han ; Sansone, Valeria ; Scoto, Mariacristina ; Vucinic, Dragana ; Willis, Tracey
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2024-04, Vol.23 (4), p.393-403
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Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial
Author / Creator:Bertini, Enrico, Prof ; Dessaud, Eric, PhD ; Mercuri, Eugenio, Prof ; Muntoni, Francesco, Prof ; Kirschner, Janbernd, Prof ; Reid, Carol, PhD ; Lusakowska, Anna, MD ; Comi, Giacomo P, Prof ; Cuisset, Jean-Marie, MD ; Abitbol, Jean-Louis, MD ; Scherrer, Bruno, PhD ; Ducray, Patricia Sanwald, PhD ; Buchbjerg, Jeppe, MSc ; Vianna, Eduardo, PhD ; van der Pol, W Ludo, MD ; Vuillerot, Carole, MD ; Blaettler, Thomas, MD ; Fontoura, Paulo, MD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2017-07, Vol.16 (7), p.513-522
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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids
Author / Creator:Saffari, Afshin ; Niesert, Moritz ; Cannet, Claire ; Blaschek, Astrid ; Hahn, Andreas ; Johannsen, Jessika ; Kockaya, Musa ; Kölbel, Heike ; Hoffmann, Georg F. ; Claus, Peter ; Kölker, Stefan ; Müller-Felber, Wolfgang ; Roos, Andreas ; Schara-Schmidt, Ulrike ; Trefz, Friedrich K. ; Vill, Katharina ; Wick, Wolfgang ; Weiler, Markus ; Okun, Jürgen G. ; Ziegler, Andreas
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2024-11, Vol.25 (22), p.12123
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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using [sup.1]H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofl...
Author / Creator:Saffari, Afshin ; Niesert, Moritz ; Cannet, Claire ; Blaschek, Astrid ; Hahn, Andreas ; Johannsen, Jessika ; Kockaya, Musa ; Kölbel, Heike ; Hoffmann, Georg F ; Claus, Peter ; Kölker, Stefan ; Müller-Felber, Wolfgang ; Roos, Andreas ; Schara-Schmidt, Ulrike ; Trefz, Friedrich K ; Vill, Katharina ; Wick, Wolfgang ; Weiler, Markus ; Okun, Jürgen G ; Ziegler, Andreas
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2024-11, Vol.25 (22)
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36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

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

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

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Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening

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

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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, double-blind, placebo-c...

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Long-Term Socioeconomic and Neurologic Outcome for Individuals with Childhood-Onset Multiple Sclerosis

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Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

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

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1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

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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

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Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines

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Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial

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Pompe Disease: Neurology Perspectives

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The Pompe Registry: Centralized Data Collection to Track the Natural Course of Pompe Disease

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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

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Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

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Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids

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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using [sup.1]H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofl...

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