Resultados de procura - Knut Brockmann

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  1. 1
    Tandem Mass Spectrometry for the Direct Assay of Enzymes in Dried Blood Spots: Application to Newborn Screening for Krabbe Disease

    Tandem Mass Spectrometry for the Direct Assay of Enzymes in Dried Blood Spots: Application to Newborn Screening for Krabbe Disease por Yijun Li, Knut Brockmann, František Tureček, C. Ronald Scott, Michael H. Gelb

    Publicado 2004
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  2. 2
    A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene

    A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene por Alexandra M. Dumitrescu, Xiao-Hui Liao, Thomas B. Best, Knut Brockmann, Samuel Refetoff

    Publicado 2004
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  3. 3
    Regional Age Dependence of Human Brain Metabolites from Infancy to Adulthood as Detected by Quantitative Localized Proton MRS

    Regional Age Dependence of Human Brain Metabolites from Infancy to Adulthood as Detected by Quantitative Localized Proton MRS por Petra J. W. Pouwels, Knut Brockmann, Bernd Kruse, Bernd Wilken, Markus Wick, F. Hanefeld, Jens Frahm

    Publicado 1999
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  4. 4
    Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

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

    Publicado 2012
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  5. 5
    CHARGE and Kabuki syndromes: a phenotypic and molecular link

    CHARGE and Kabuki syndromes: a phenotypic and molecular link por Yvonne Schulz, Luisa Freese, Johanna Mänz, Barbara Zoll, Christiane Völter, Knut Brockmann, Nina Bögershausen, Jutta Becker, Bernd Wollnik, Silke Pauli

    Publicado 2014
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  6. 6
    Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations

    Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations por Knut Brockmann, Steffi Dreha‐Kulaczewski, Peter Dechent, Carsten G. Bönnemann, Gunther Helms, Mårten Kyllerman, Wolfgang Brück, Jens Frahm, Kathrin Huehne, Jutta Gärtner, Bernd Rautenstrauß

    Publicado 2008
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  7. 7
    Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

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

    Publicado 2012
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  8. 8
    Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency

    Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency por Knut Brockmann, Alf Bjørnstad, Peter Dechent, Christoph Korenke, Jan Smeitink, J. M. F. Trijbels, Sabine Athanassopoulos, Rafael Villagrán, Ola H. Skjeldal, Ekkehard Wilichowski, Jens Frahm, F. Hanefeld

    Publicado 2002
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  9. 9
    Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy

    Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy por Guy Helman, Ljubica Caldovic, Matthew T. Whitehead, Cas Simons, Knut Brockmann, Simon Edvardson, Renkui Bai, Isabella Moroni, J. Michael Taylor, Keith Van Haren, Ryan J. Taft, Adeline Vanderver, Marjo S. van der Knaap

    Publicado 2015
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  10. 10
    Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsy

    Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsy por Knut Brockmann, Dong Wang, Christoph Korenke, Arpad von Moers, Yuan‐Yuan Ho, Juan M. Pascual, Kunyan Kuang, Hong Yang, Li Ma, Pamela Kranz‐Eble, Jorge Fischbarg, F. Hanefeld, Darryl C. De Vivo

    Publicado 2001
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  11. 11
    Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

    Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy por Sebahattin Çırak, Florian von Deimling, Shrikesh Sachdev, Wesley J. Errington, Ralf Herrmann, Carsten G. Bönnemann, Knut Brockmann, Stephan Hinderlich, Tom H. Lindner, Alice Steinbrecher, Katrin Hoffmann, Gilbert G. Privé, Mark Hannink, Peter Nürnberg, Thomas Voït

    Publicado 2010
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  12. 12
    Quality of Life after Brain Injury in Children and Adolescents (QOLIBRI-KID/ADO)—The First Disease-Specific Self-Report Questionnaire after Traumatic Brain Injury

    Quality of Life after Brain Injury in Children and Adolescents (QOLIBRI-KID/ADO)—The First Disease-Specific Self-Report Questionnaire after Traumatic Brain Injury por Nicole von Steinbüechel, Marina Zeldovich, Sven Greving, Laiene Olabarrieta‐Landa, Ugne Krenz, Dagmar Timmermann, Inga K. Koerte, Michaela Bonfert, Steffen Berweck, Matthias Kieslich, Knut Brockmann, Maike Roediger, Michael Lendt, Michael Staebler, Silke Schmidt, Holger Muehlan, Katrin Cunitz

    Publicado 2023
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  13. 13
    Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum

    Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum por Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie‐Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoît, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gécz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier

    Publicado 2016
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  14. 14
    Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

    Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice por Yaqun Zou, Daniela Zwolanek, Yayoi Izu, Shreya Gandhy, Gudrun Schreiber, Knut Brockmann, Marcella Devoto, Zuozhen Tian, Ying Hu, Guido Veit, Markus Meier, Jörg Stetefeld, Debbie Hicks, Volker Straub, Nicol C. Voermans, David E. Birk, Elisabeth R. Barton, Manuel Koch, Carsten G. Bönnemann

    Publicado 2013
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  15. 15
    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria por Mary O’Driscoll, Sarah B. Daly, Jill Urquhart, Graeme Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Nicole I. Wolf, Roger L. Ladda, Susan L. Sell, Stefano D’Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow

    Publicado 2010
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  16. 16
    Pontocerebellar hypoplasia type 1

    Pontocerebellar hypoplasia type 1 por Sabine Rudnik–Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul‐Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, László Sztriha, J. Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, P. G. Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres

    Publicado 2013
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  17. 17
    Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

    Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) por Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, D. Rating, Romina Romaniello, Filippo M. Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente

    Publicado 2016
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  18. 18
    GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

    GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak por Yvonne G. Weber, Alexander Storch, Thomas V. Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A. Schneider, Stephan M. Huber, Arnulf Pekrun, Robert Roebling, Guiscard Seebohm, Saisudha Koka, Camelia Lang, Eduard Kraft, Dragica Blazevic, Alberto Salvo‐Vargas, Michael Fauler, Felix M. Mottaghy, Alexander Münchau, Mark J. Edwards, Anna Presicci, Francesco Margari, Thomas Gasser, Florian Läng, Kailash P. Bhatia, Frank Lehmann‐Horn, Holger Lerche

    Publicado 2008
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  19. 19
    High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

    High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors por Stefanie Spiegler, Juliane Najm, Jian Liu, Stephanie Gkalympoudis, W. Schröder, Guntram Borck, Knut Brockmann, Miriam Elbracht, Christine Fauth, A. Ferbert, Leonie Freudenberg, Ute Grasshoff, Yorck Hellenbroich, Wolfram Henn, Sabine Hoffjan, Irina Hüning, Georg-Christoph Korenke, Peter M. Kroisel, Erdmute Kunstmann, Martina Mair, Susanne Munk‐Schulenburg, Omid Nikoubashman, Silke Pauli, Sabine Rudnik–Schöneborn, Irene Sudholt, Ulrich Sure, Sigrid Tinschert, Michaela Wiednig, Barbara Zoll, Mark H. Ginsberg, Ute Felbor

    Publicado 2014
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  20. 20
    Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

    Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia por Yasmin Namavar, P. G. Barth, Paul R. Kasher, Fred van Ruissen, Knut Brockmann, G. Bernert, Karin Writzl, Karen Ventura, Kwang‐Ting Cheng, Donna M. Ferriero, Lina Basel‐Vanagaite, Veerle Rc Eggens, Ingeborg Krägeloh‐Mann, Linda De Meırleır, Mary D. King, John M. Graham, Arpad von Moers, N. A. V. M. Knoers, László Sztriha, Rudolf Korinthenberg, PCH Consortium, William B. Dobyns, Frank Baas, Bwee Tien Poll‐The

    Publicado 2010
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