Auflistung Universitätsbibliographie nach Autor "Haack, Tobias"

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Auflistung Universitätsbibliographie nach Autor "Haack, Tobias"

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  • Clustered variants in the 5 ' coding region of TRA2B cause a distinctive neurodevelopmental syndrome
    Ramond, Francis; Dalgliesh, Caroline; Grimmel, Mona; Wechsberg, Oded; Vetro, Annalisa; Guerrini, Renzo; FitzPatrick, David; Poole, Rebecca L.; Lebrun, Marine; Bayat, Allan; Grasshoff, Ute; Bertrand, Miriam; Witt, Dennis; Turnpenny, Peter D.; Faundes, Victor; Santa Maria, Lorena; Fuentes, Carolina Mendoza; Mabe, Paulina; Hussain, Shaun A.; Mullegama, Sureni V.; Torti, Erin; Oehl-Jaschkowitz, Barbara; Salmon, Lina Basel; Orenstein, Naama; Shahar, Noa Ruhrman; Hagari, Ofir; Bazak, Lily; Hoffjan, Sabine; Prada, Carlos E.; Haack, Tobias; Elliott, David J. (2023)
  • Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities
    Herebian, Diran; Alhaddad, Bader; Seibt, Annette; Schwarzmayr, Thomas; Danhauser, Katharina; Klee, Dirk; Harmsen, Stefani; Meitinger, Thomas; Strom, Tim M.; Schulz, Ansgar; Mayatepek, Ertan; Haack, Tobias B.; Distelmaier, Felix (2017)
  • Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
    Puusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F.; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J.; Safiulina, Dzhamilja; Strom, Tim M.; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B.; Ounap, Katrin (2018)
  • De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
    Manole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry (2020)
  • De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
    Van de Vondel, Liedewei; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli; Baets, Jonathan (2022)
  • De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
    Fritzen, Daniel; Kuechler, Alma; Grimmel, Mona; Becker, Jessica; Peters, Sophia; Sturm, Marc; Hundertmark, Hela; Schmidt, Axel; Kreiss, Martina; Strom, Tim M.; Wieczorek, Dagmar; Haack, Tobias B.; Beck-Woedl, Stefanie; Cremer, Kirsten; Engels, Hartmut (2018)
  • De novo missense variants in FBXO11 alter its protein expression and subcellular localization
    Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R.; Bernat, John A.; Bombei, Hannah M.; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stobe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, Andre; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J.; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M. C.; Haack, Tobias B.; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane (2022)
  • De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
    Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; van der Lee, Robin; van Karnebeek, Clara D.; Meitinger, Thomas; Krageloh-Mann, Ingeborg; Vill, Katharina (2021)
  • De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
    Park, Joohyun; Flores, Bianca R.; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B. (2020)
  • De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
    Gregor, Anne; Sadleir, Lynette G.; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogne, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B.; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M. A.; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C.; Miyake, Noriko; Myers, Candace T.; Moutton, Sebastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B.; Sarkar, Ajoy; Scheffer, Ingrid E.; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D.; Zackai, Elaine H.; Univ, Washington Ctr Mendelian Genomics D. D. D.; Reis, Andre; Sticht, Heinrich; Zweier, Christiane (2018)
  • Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy
    Rattay, Tim W.; Rautenberg, Maren; Soehn, Anne S.; Hengel, Holger; Traschuetz, Andreas; Roeben, Benjamin; Hayer, Stefanie N.; Schuele, Rebecca; Wiethoff, Sarah; Zeltner, Lena; Haack, Tobias B.; Cegan, Alexander; Schoels, Ludger; Schleicher, Erwin; Peter, Andreas (2020)
  • Defining the phenotypical spectrum associated with variants in TUBB2A
    Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Regal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Kraegeloh-Mann, Ingeborg; Haack, Tobias B.; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria Simonetta; Webster, Richard; Mohammad, Shekeeb; Leventer, Richard J.; Mirzaa, Ghayda; Dobyns, William B.; Bahi-Buisson, Nadia; Meuwissen, Marije; Jansen, Anna C.; Stouffs, Katrien (2021)
  • Delineating MT-ATP6-associated disease
    Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang; Klopstock, Thomas (2020)
  • Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders
    Zhou, Jian; Hamdan, Hamdan; Yalamanchili, Hari Krishna; Pang, Kaifang; Pohodich, Amy E.; Lopez, Joanna; Shao, Yingyao; Oses-Prieto, Juan A.; Li, Lifang; Kim, Wonho; Durham, Mark A.; Bajikar, Sameer S.; Palmer, Donna J.; Ng, Philip; Thompson, Michelle L.; Bebin, E. Martina; Mueller, Amelie J.; Kuechler, Alma; Kampmeier, Antje; Haack, Tobias B.; Burlingame, Alma L.; Liu, Zhandong; Rasband, Matthew N.; Zoghbi, Huda Y. (2022)
  • Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11
    Reinson, Karit; Kovacs-Nagy, Reka; Oiglane-Shlik, Eve; Pajusalu, Sander; Noukas, Margit; Wintjes, Liesbeth T.; van den Brandt, Frans C. A.; Brink, Maaike; Acker, Till; Ahting, Uwe; Hahn, Andreas; Schanzer, Anne; Haack, Tobias B.; Rodenburg, Richard J.; Ounapa, Katrin (2019)
  • DLG4-related synaptopathy: a new rare brain disorder
    Rodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A.; Marcos-Alcalde, Inigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogne, Benjamin; Coubes, Christine; de Man, Stella A.; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; Garcia-Minaur, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjorn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Mueller, Amelie J.; O'Leary, Melanie; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlueter, Agatha; Schoenewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmee; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmueller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gomez-Puertas, Paulino; Pujol, Aurora; Tumer, Zeynep (2021)
  • Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness
    Mahler, Elisa A.; Johannsen, Jessika; Tsiakas, Konstantinos; Kloth, Katja; Luettgen, Sabine; Muehlhausen, Chris; Alhaddad, Bader; Haack, Tobias B.; Strom, Tim M.; Kortuem, Fanny; Meitinger, Thomas; Muntau, Ania C.; Santer, Rene; Kubisch, Christian; Lessel, Davor; Denecke, Jonas; Hempel, Maja (2019)
  • Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants
    Haertl, Johanna; Hartberger, Julia; Wunderlich, Silke; Cordts, Isabell; Bafligil, Cemsel; Sturm, Marc; Westphal, Dominik; Haack, Tobias; Hemmer, Bernhard; Ikenberg, Benno David; Deschauer, Marcus (2023)
  • Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen : Aktueller Stand, Herausforderungen, Perspektiven
    Scholz, Tasja; Dufke, Andreas; Haack, Tobias; Elbracht, Miriam; Eggermann, Thomas; Roggia, Cristiana; Riess, Olaf; Kurth, Ingo; Hempel, Maja (2022)
  • Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
    Perrier, Stefanie; Gauquelin, Laurence; Fallet-Bianco, Catherine; Dishop, Megan K.; Michell-Robinson, Mackenzie A.; Tran, Luan T.; Guerrero, Kether; Darbelli, Lama; Srour, Myriam; Petrecca, Kevin; Renaud, Deborah L.; Saito, Michael; Cohen, Seth; Leiz, Steffen; Alhaddad, Bader; Haack, Tobias B.; Tejera-Martin, Ingrid; Monton, Fernando I.; Rodriguez-Espinosa, Norberto; Pohl, Daniela; Nageswaran, Savithri; Grefe, Annette; Glamuzina, Emma; Bernard, Genevieve (2020)