Rezultati - Kölbel, Heike

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients od Kölbel, Heike, Hathazi, Denisa, Jennings, Matthew, Horvath, Rita, Roos, Andreas, Schara, Ulrike

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Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III od Kölbel, Heike, Hauffa, Berthold P., Wudy, Stefan A., Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike

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Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III od Kölbel, Heike, Hauffa, Berthold P., Wudy, Stefan A., Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike

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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study od Della Marina, Adela, Wibbeler, Eva, Abicht, Angela, Kölbel, Heike, Lochmüller, Hanns, Roos, Andreas, Schara, Ulrike

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New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1 od Kölbel, Heike, Kraft, Florian, Hentschel, Andreas, Czech, Artur, Gangfuss, Andrea, Mohassel, Payam, Nguyen, Chi, Stenzel, Werner, Schara-Schmidt, Ulrike, Preuße, Corinna, Roos, Andreas

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) od Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas, Horvath, Rita

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Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy od Della Marina, Adela, Pawlitzki, Marc, Ruck, Tobias, van Baalen, Andreas, Vogt, Nadine, Schweiger, Bernd, Hertel, Swantje, Kölbel, Heike, Wiendl, Heinz, Preuße, Corinna, Roos, Andreas, Schara-Schmidt, Ulrike

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Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS od Braun, Frederik, Hentschel, Andreas, Sickmann, Albert, Marteau, Theodore, Hertel, Swantje, Förster, Fabian, Prokisch, Holger, Wagner, Matias, Wortmann, Saskia, Della Marina, Adela, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike

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Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany od Pechmann, Astrid, Langer, Thorsten, Schorling, David, Stein, Sabine, Vogt, Sibylle, Schara, Ulrike, Kölbel, Heike, Schwartz, Oliver, Hahn, Andreas, Giese, Kerstin, Johannsen, Jessika, Denecke, Jonas, Weiß, Claudia, Theophil, Manuela, Kirschner, Janbernd

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Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3 od Della Marina, Adela, Arlt, Annabelle, Schara-Schmidt, Ulrike, Depienne, Christel, Gangfuß, Andrea, Kölbel, Heike, Sickmann, Albert, Freier, Erik, Kohlschmidt, Nicolai, Hentschel, Andreas, Weis, Joachim, Czech, Artur, Grüneboom, Anika, Roos, Andreas

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Further evidence for POMK as candidate gene for WWS with meningoencephalocele od Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike, Kuechler, Alma

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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism od Meinke, Peter, Kerr, Alastair R.W., Czapiewski, Rafal, de las Heras, Jose I., Dixon, Charles R., Harris, Elizabeth, Kölbel, Heike, Muntoni, Francesco, Schara, Ulrike, Straub, Volker, Schoser, Benedikt, Wehnert, Manfred, Schirmer, Eric C.

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

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

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

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

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

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Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa od Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn

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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis od Mohassel, Payam, Donkervoort, Sandra, Lone, Museer A., Nalls, Matthew, Gable, Kenneth, Gupta, Sita D., Foley, A. Reghan, Hu, Ying, Saute, Jonas Alex Morales, Moreira, Ana Lucila, Kok, Fernando, Introna, Alessandro, Logroscino, Giancarlo, Grunseich, Christopher, Nickolls, Alec R., Pourshafie, Naemeh, Neuhaus, Sarah B., Saade, Dimah, Gangfuß, Andrea, Kölbel, Heike, Piccus, Zoe, Le Pichon, Claire E., Fiorillo, Chiara, Ly, Cindy V., Töpf, Ana, Brady, Lauren, Specht, Sabine, Zidell, Aliza, Pedro, Helio, Mittelmann, Eric, Thomas, Florian P., Chao, Katherine R., Konersman, Chamindra G., Cho, Megan T., Brandt, Tracy, Straub, Volker, Connolly, Anne M., Schara, Ulrike, Roos, Andreas, Tarnopolsky, Mark, Höke, Ahmet, Brown, Robert H., Lee, Chia-Hsueh, Hornemann, Thorsten, Dunn, Teresa M., Bönnemann, Carsten G.

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