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Measurement of structural integrity of the spinal cord in patients with amyotrophic lateral sclerosis using diffusion tensor magnetic resonance imaging
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Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
Ikenberg, Elena, Reilich, Peter, Abicht, Angela, Heller, Corina, Schoser, Benedikt, Walter, Maggie C.
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Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany
Schreiber-Katz, Olivia, Klug, Constanze, Thiele, Simone, Schorling, Elisabeth, Zowe, Janet, Reilich, Peter, Nagels, Klaus H, Walter, Maggie C
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The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
Reilich, Peter, Horvath, Rita, Krause, Sabine, Schramm, Nicolai, Turnbull, Doug M., Trenell, Michael, Hollingsworth, Kieren G., Gorman, Grainne S., Hans, Volkmar H., Reimann, Jens, MacMillan, Andrée, Turner, Lesley, Schollen, Annette, Witte, Gregor, Czermin, Birgit, Holinski-Feder, Elke, Walter, Maggie C., Schoser, Benedikt, Lochmüller, Hanns
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ALSFRS-R-SE: an adapted, annotated, and self-explanatory version of the revised amyotrophic lateral sclerosis functional rating scale
Maier, André, Boentert, Matthias, Reilich, Peter, Witzel, Simon, Petri, Susanne, Großkreutz, Julian, Metelmann, Moritz, Lingor, Paul, Cordts, Isabell, Dorst, Johannes, Zeller, Daniel, Günther, René, Hagenacker, Tim, Grehl, Torsten, Spittel, Susanne, Schuster, Joachim, Ludolph, Albert, Meyer, Thomas
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The p.G154S mutation of the alpha-B crystallin gene ( CRYAB ) causes late-onset distal myopathy
Reilich, Peter, Schoser, Benedikt, Schramm, Nicolai, Krause, Sabine, Schessl, Joachim, Kress, Wolfram, Müller-Höcker, Josef, Walter, Maggie C, Lochmuller, Hanns
Published in Neuromuscular disorders : NMD (01.04.2010)
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An integrated diagnosis strategy for congenital myopathies
Böhm, Johann, Vasli, Nasim, Malfatti, Edoardo, Le Gras, Stéphanie, Feger, Claire, Jost, Bernard, Monnier, Nicole, Brocard, Julie, Karasoy, Hatice, Gérard, Marion, Walter, Maggie C, Reilich, Peter, Biancalana, Valérie, Kretz, Christine, Messaddeq, Nadia, Marty, Isabelle, Lunardi, Joël, Romero, Norma B, Laporte, Jocelyn
Published in PloS one (24.06.2013)
Published in PloS one (24.06.2013)
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Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery–Dreifuss muscular dystrophy
Walter, Maggie C., Witt, Thomas N., Weigel, Beate Schlotter, Reilich, Peter, Richard, Pascale, Pongratz, Dieter, Bonne, Gisèle, Wehnert, Manfred S., Lochmüller, Hanns
Published in Neuromuscular disorders : NMD (01.01.2005)
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Myelitis as a side effect of tofersen therapy in SOD1-associated ALS
Reilich, Peter, Schöberl, Florian, Hiebeler, Miriam, Tonon, Matthias, Ludolph, Albert C., Senel, Makbule
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Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease
Schaub, Annalisa, Erdmann, Hannes, Scholz, Veronika, Timmer, Manuela, Cordts, Isabell, Günther, Rene, Reilich, Peter, Abicht, Angela, Schöberl, Florian
Published in Journal of neurology (01.09.2024)
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Disease burden of spinal muscular atrophy in Germany
Klug, Constanze, Schreiber-Katz, Olivia, Thiele, Simone, Schorling, Elisabeth, Zowe, Janet, Reilich, Peter, Walter, Maggie C, Nagels, Klaus H
Published in Orphanet journal of rare diseases (04.05.2016)
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Cutaneous T-cell lymphoma mimicking myopathy with lipoatrophy
Hiebeler, Miriam, Reinholz, Markus, Flaig, Michael, Schmidt, Christian, Schoser, Benedikt, Herzinger, Thomas, Abicht, Angela, Reilich, Peter
Published in Neuromuscular disorders : NMD (01.01.2022)
Published in Neuromuscular disorders : NMD (01.01.2022)
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Recent developments in Duchenne muscular dystrophy: facts and numbers
Walter, Maggie C., Reilich, Peter
Published in Journal of cachexia, sarcopenia and muscle (01.10.2017)
Published in Journal of cachexia, sarcopenia and muscle (01.10.2017)
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Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany
Schorling, Elisabeth, Thiele, Simone, Gumbert, Laura, Krause, Sabine, Klug, Constanze, Schreiber-Katz, Olivia, Reilich, Peter, Nagels, Klaus, Walter, Maggie C
Published in Neurology (23.04.2019)
Published in Neurology (23.04.2019)
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Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy
Erdmann, Hannes, Scharf, Florentine, Gehling, Stefanie, Benet-Pagès, Anna, Jakubiczka, Sibylle, Becker, Kerstin, Seipelt, Maria, Kleefeld, Felix, Knop, Karl Christian, Prott, Eva-Christina, Hiebeler, Miriam, Montagnese, Federica, Gläser, Dieter, Vorgerd, Matthias, Hagenacker, Tim, Walter, Maggie C, Reilich, Peter, Neuhann, Teresa, Zenker, Martin, Holinski-Feder, Elke, Schoser, Benedikt, Abicht, Angela
Published in Brain (London, England : 1878) (19.04.2023)
Published in Brain (London, England : 1878) (19.04.2023)
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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness
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
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Published in Neurology (19.07.2016)
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Diagnostic accuracy and confounders of vagus nerve ultrasound in amyotrophic lateral sclerosis—a single-center case series and pooled individual patient data meta-analysis
Müller, Katharina J., Schmidbauer, Moritz L., Schönecker, Sonja, Kamm, Katharina, Pelz, Johann O., Holzapfel, Korbinian, Papadopoulou, Marianna, Bakola, Eleni, Tsivgoulis, Georgios, Naumann, Markus, Hermann, Andreas, Walter, Uwe, Dimitriadis, Konstantinos, Reilich, Peter, Schöberl, Florian
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Published in Journal of neurology (01.09.2024)
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