Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study von Rosewich, Hendrik, MD, Thiele, Holger, MD, Ohlenbusch, Andreas, PhD, Maschke, Ulrike, MD, Altmüller, Janine, MD, Frommolt, Peter, PhD, Zirn, Birgit, PhD, Ebinger, Friedrich, MD, Siemes, Hartmut, Prof, Nürnberg, Peter, Prof, Brockmann, Knut, Prof, Gärtner, Jutta, Prof

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Modeling of Speech-dependent Own Voice Transfer Characteristics for Hearables with In-ear Microphones: Audio Examples von Ohlenbusch, Mattes, Rollwage, Christian, Doclo, Simon

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The expanding clinical and genetic spectrum of ATP1A3-related disorders von Rosewich, Hendrik, Ohlenbusch, Andreas, Huppke, Peter, Schlotawa, Lars, Baethmann, Martina, Carrilho, Inês, Fiori, Simona, Lourenço, Charles Marques, Sawyer, Sarah, Steinfeld, Robert, Gärtner, Jutta, Brockmann, Knut

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Modeling of speech-dependent own voice transfer characteristics for hearables with an in-ear microphone von Ohlenbusch, Mattes, Rollwage, Christian, Doclo, Simon

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Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome von Rosewich, Hendrik, Weise, Dagmar, Ohlenbusch, Andreas, Gärtner, Jutta, Brockmann, Knut

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Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease... von Lazarov, Elinor, Hillebrand, Merle, Schröder, Simone, Ternka, Katharina, Hofhuis, Julia, Ohlenbusch, Andreas, Barrantes-Freer, Alonso, Pardo, Luis A., Fruergaard, Marlene U., Nissen, Poul, Brockmann, Knut, Gärtner, Jutta, Rosewich, Hendrik

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Martina Wernli, Schreiben am Rand. Die „Bernische kantonale Irrenanstalt Waldau“ und ihre Narrative (1895–1936), (Lettre) Bielefeld: transcript 2014 von Ohlenbusch, Sabine

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Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy von Reinert, Marie-Christine, Pacheu-Grau, David, Catarino, Claudia B, Klopstock, Thomas, Ohlenbusch, Andreas, Schittkowski, Michael, Wilichowski, Ekkehard, Rehling, Peter, Brockmann, Knut

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Evidence of pathogenicity for the leaky splice variant c.1066‐6T>G in ATM von Schröder, Simone, Wieland, Britta, Ohlenbusch, Andreas, Yigit, Gökhan, Altmüller, Janine, Boltshauser, Eugen, Dörk, Thilo, Brockmann, Knut

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Murine breast cancer feed arteries are thin-walled with reduced α1A-adrenoceptor expression and attenuated sympathetic vasocontraction von Froelunde, Anne Sofie, Ohlenbusch, Marit, Hansen, Kristoffer B, Jessen, Nicolai, Kim, Sukhan, Boedtkjer, Ebbe

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Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM von Schröder, Simone, Wieland, Britta, Ohlenbusch, Andreas, Yigit, Gökhan, Altmüller, Janine, Boltshauser, Eugen, Dörk, Thilo, Brockmann, Knut

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Evidence of pathogenicity for the leaky splice variant c.1066‐6T>Gin ATM von Schröder, Simone, Wieland, Britta, Ohlenbusch, Andreas, Yigit, Gökhan, Altmüller, Janine, Boltshauser, Eugen, Dörk, Thilo, Brockmann, Knut

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Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients von Rosewich, H., Dechent, P., Krause, C., Ohlenbusch, A., Brockmann, K., Gärtner, J.

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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency von Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut

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Murine breast cancer feed arteries are thin-walled with reduced α 1A -adrenoceptor expression and attenuated sympathetic vasocontraction von Froelunde, Anne Sofie, Ohlenbusch, Marit, Hansen, Kristoffer B, Jessen, Nicolai, Kim, Sukhan, Boedtkjer, Ebbe

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A novel ATP1A3 mutation with unique clinical presentation von Rosewich, Hendrik, Baethmann, Martina, Ohlenbusch, Andreas, Gärtner, Jutta, Brockmann, Knut

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GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease von HENNEKE, M, COMBES, P, BOESPFLUG-TANGUY, O, GÄRTNER, J, DIEKMANN, S, BERTINI, E, BROCKMANN, K, BURLINA, A. P, KAISER, J, OHIENBUSCH, A, PLECKO, B, RODRIGUEZ, D

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Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient von Schlotawa, Lars, Dierks, Thomas, Christoph, Sophie, Cloppenburg, Eva, Ohlenbusch, Andreas, Korenke, G. Christoph, Gärtner, Jutta

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An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype von Lehmann, J., Schubert, S., Schäfer, A., Apel, A., Laspe, P., Schiller, S., Ohlenbusch, A., Gratchev, A., Emmert, S.

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Predicting pharmacokinetic food effects using biorelevant solubility media and physiologically based modelling von JONES, Hannah M, PARROTT, Neil, OHLENBUSCH, Gerd, LAVE, Thierry

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