Search Results - "Koelbel, H"

Low ovarian reserve in girls with autosomal-recessive proximal spinal muscular atrophies type I–III by Koelbel, H, Hauffa, B, Boukidis, A, Lutz, S, Della-Marina, A, Schara, U

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P.28 Introduction of 12 novel pathogenic DMD variants, associated phenotypes and studies of dystrophin and MAST1 abundances by Gangfuss, A., Neuhoff, K., Hentschel, A., Kohlschmidt, N., Koelbel, H., Schara Schmidt, U., Roos, A.

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175P Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric 5q-associated spinal muscular atrophy patients by Dobelmann, V., Roos, A., Hentschel, A., Della Marina, A., Leo, M., Schmitt, L., Maggi, L., Schara-Schmidt, U., Hagenacker, T., Ruck, T., Koelbel, H.

“…Spinal muscular atrophy (SMA) ranks as the second most prevalent neurodegenerative condition in childhood, characterized by a deficiency in the survival of…”
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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study by Mercuri, Eugenio, Muntoni, Francesco, Osorio, Andrés Nascimento, Tulinius, Már, Buccella, Filippo, Morgenroth, Lauren P, Gordish-Dressman, Heather, Jiang, Joel, Trifillis, Panayiota, Zhu, Jin, Kristensen, Allan, Santos, Claudio L, Henricson, Erik K, McDonald, Craig M, Desguerre, Isabelle

“…Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding…”
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Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy – results of a prospective diagnostic study by Schorling, D.C., Müller, C.K., Pechmann, A., Borell, S., Rosenfelder, S., Kölbel, H., Schara, U., Zieger, B., Kirschner, J.

“…•Secretion of platelet granules was impaired in patients with Duchenne muscular dystrophy.•Platelet aggregation was reduced after stimulation with ADP…”
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G.P.31 - Low ovarian reserve in girls with autosomal-recessive proximal spinal muscular atrophies type I–III by Koelbel, H., Hauffa, B., Boukidis, A., Lutz, S., Della-Marina, A., Schara, U.

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P.379Fetal Acetylcholine Receptor Inactivation Syndrome (FARIS): A potentially treatable autoimmune disorder mimicking a wide range of genetic neuromuscular conditions by O'Rahelly, M., Fernandez-Garcia, M., Hahn, A., Nguyen, C., Kim, D., Byun, S., Koelbel, H., Schara, U., Henrich, M., Leslie, J., Eymard, B., Chouchane, M., Roefke, K., Thieme, A., van den Bergh, P., Paquay, S., Schneider-Gold, C., Vincent, A., Allen, N., Jungbluth, H.

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Spinal muscular atrophy : Time for newborn screening? by Vill, K, Blaschek, A, Schara, U, Kölbel, H, Hohenfellner, K, Harms, E, Olgemöller, B, Walter, Maggie C, Müller-Felber, W

“…The most common neurodegenerative disease in childhood is spinal muscular atrophy (SMA). The severe infantile type 1 (Werdnig-Hoffman disease) makes 60% of SMA…”
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Alterations of tumor and normal tissue of human lung cancer resection specimens after isolation perfusion by Nowak, K, Hanusch, C, Kölbel, H C, Schwarzbach, M, Post, S, Beck, G, Gebhard, M M, Metzger, R, Hohenberger, P

“…The isolation perfusion model, including transbronchial ventilation of human lung, offers the possibility to study pharmacological interactions under…”
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Neugeborenenscreening auf spinale Muskelatrophie: Was muss der Pädiater wissen? by Müller-Felber, W., Vill, K., Schwartz, O., Blaschek, A., Nennstiel, U., Schara, U., Hoffmann, G. F., Gläser, D., Becker, M., Röschinger, W., Bernert, G., Klein, A., Kölbel, H.

“…Zusammenfassung Im Dezember 2020 hat der Gemeinsame Bundesausschuss beschlossen, dass das Screening auf spinale Muskelatrophie (SMA) in das allgemeine…”
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REMARKS ON THE STRUCTURE OF THE CELL WALL OF MYCOBACTERIA by KOELBEL, H

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Electronoptic findings on the effect of tween 80 on the cell of Mycobacterium avium by KOELBEL, H

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Spinale Muskelatrophie: Zeit für das Neugeborenenscreening? by Vill, K., Blaschek, A., Schara, U., Kölbel, H., Hohenfellner, K., Harms, E., Olgemöller, B., Walter, Maggie C., Müller-Felber, W.

“…Zusammenfassung Die spinale Muskelatrophie (SMA) ist die häufigste neurodegenerative Erkrankung im Kindesalter. Die relative Häufigkeit des infantilen, schwer…”
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Kleinkind mit sich früh entwickelnder Neuropathie, Klumpfüßen und im Verlauf zunehmender Schwäche der Atemmuskulatur by Lubojanski, A., Lutz, S., Kölbel, H., Bouikidis, A., Schara, U.

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Anatomy of the mycobacterial cell by Kölbel, H K

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Partially carbon coated support films--qualities and application by Kölbel, H

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Research on Mycobacterium tuberculosis. V. Multiplication of phosphate granules by KOLBEL, H

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A new type of light filter apparatus for microscopic fluorescence analysis by KOLBEL, H

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Value of the fluorescence-microscopic method in demonstrating Mycobacterium tuberculosis in menstrual blood by KOLBEL, H

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Das Substrat der Variabilität von Mycobakterien im elektronenmikroskopischen Bild by Kölbel, H.

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