The expanding phenotype of GLUT1-deficiency syndrome von Brockmann, Knut

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A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome von Lindhurst, Marjorie J, Sapp, Julie C, Teer, Jamie K, Johnston, Jennifer J, Finn, Erin M, Peters, Kathryn, Turner, Joyce, Cannons, Jennifer L, Bick, David, Blakemore, Laurel, Blumhorst, Catherine, Brockmann, Knut, Calder, Peter, Cherman, Natasha, Deardorff, Matthew A, Everman, David B, Golas, Gretchen, Greenstein, Robert M, Kato, B. Maya, Keppler-Noreuil, Kim M, Kuznetsov, Sergei A, Miyamoto, Richard T, Newman, Kurt, Ng, David, O'Brien, Kevin, Rothenberg, Steven, Schwartzentruber, Douglas J, Singhal, Virender, Tirabosco, Roberto, Upton, Joseph, Wientroub, Shlomo, Zackai, Elaine H, Hoag, Kimberly, Whitewood-Neal, Tracey, Robey, Pamela G, Schwartzberg, Pamela L, Darling, Thomas N, Tosi, Laura L, Mullikin, James C, Biesecker, Leslie G

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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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The LYR Factors SDHAF1 and SDHAF3 Mediate Maturation of the Iron-Sulfur Subunit of Succinate Dehydrogenase von Na, Un, Yu, Wendou, Cox, James, Bricker, Daniel K., Brockmann, Knut, Rutter, Jared, Thummel, Carl S., Winge, Dennis R.

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

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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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Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia von Schröder, Simone, Li, Yun, Yigit, Gökhan, Altmüller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Christoph Korenke, G., Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd, Brockmann, Knut

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome von Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Marielle, Altmueller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coeslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Blok, Lot Snijders, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

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

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The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued von Schröder, Simone, Yigit, Gökhan, Li, Yun, Altmüller, Janine, Büttel, Hans-Martin, Fiedler, Barbara, Kretzschmar, Christoph, Nürnberg, Peter, Seeger, Jürgen, Serpieri, Valentina, Valente, Enza Maria, Wollnik, Bernd, Boltshauser, Eugen, Brockmann, Knut

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia von NAMAVAR, Yasmin, BARTH, Peter G, BASEL-VANAGAITE, Lina, EGGENS, Veerle R. C, KRÄGELOH-MANN, Ingeborg, DE MEIRLEIR, Linda, KING, Mary, GRAHAM JR, John M, VON MOERS, Arpad, KNOERS, Nine, SZTRIHA, Laszlo, KORINTHENBERG, Rudolf, KASHER, Paul R, DOBYNS, William B, BAAS, Frank, TIEN POLL-THE, Bwee, VAN RUISSEN, Fred, BROCKMANN, Knut, BERNERT, Günther, WRITZL, Karin, VENTURA, Karen, CHENG, Edith Y, FERRIERO, Donna M

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Applicability and clinical utility of the German rivermead post-concussion symptoms questionnaire in proxies of children after traumatic brain injury: an instrument validation stud... von Bockhop, Fabian, Greving, Sven, Zeldovich, Marina, Krenz, Ugne, Cunitz, Katrin, Timmermann, Dagmar, Kieslich, Matthias, Andelic, Nada, Buchheim, Anna, Koerte, Inga K, Roediger, Maike, Brockmann, Knut, Bonfert, Michaela V, Berweck, Steffen, Lendt, Michael, Staebler, Michael, von Steinbuechel, Nicole

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Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8-12 years von Zeldovich, Marina, Krol, Leonie, Timmermann, Dagmar, Krenz, Ugne, Arango-Lasprilla, Juan Carlos, Gioia, Gerard, Brockmann, Knut, Koerte, Inga K, Buchheim, Anna, Roediger, Maike, Kieslich, Matthias, von Steinbuechel, Nicole, Cunitz, Katrin

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A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain von Huang, Jianying, Estacion, Mark, Zhao, Peng, Dib-Hajj, Fadia B., Schulman, Betsy, Abicht, Angela, Kurth, Ingo, Brockmann, Knut, Waxman, Stephen G., Dib-Hajj, Sulayman D.

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Corrigendum: Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8-12 years von Zeldovich, Marina, Krol, Leonie, Timmermann, Dagmar, Krenz, Ugne, Arango-Lasprilla, Juan Carlos, Gioia, Gerard, Brockmann, Knut, Koerte, Inga K, Buchheim, Anna, Roediger, Maike, Kieslich, Matthias, von Steinbuechel, Nicole, Cunitz, Katrin

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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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Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases von Graessner, Holm, Reinhard, Carola, Bäumer, Tobias, Baumgärtner, Annette, Brockmann, Knut, Brüggemann, Norbert, Bültmann, Eva, Erdmann, Jeanette, Heise, Kirstin, Höglinger, Günter, Hüning, Irina, Kaiser, Frank J, Klein, Christine, Klopstock, Thomas, Krägeloh-Mann, Ingeborg, Kraemer, Markus, Luedtke, Kerstin, Mücke, Martin, Musacchio, Thomas, Nadke, Andreas, Osmanovic, Alma, Ritter, Gabriele, Röse, Katharina, Schippers, Christopher, Schöls, Ludger, Schüle, Rebecca, Schulz, Jörg B, Sproß, Joachim, Stasch, Eveline, Wunderlich, Gilbert, Münchau, Alexander

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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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