Auflistung 4 Medizinische Fakultät nach Autor "Haack, Tobias"

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Auflistung 4 Medizinische Fakultät nach Autor "Haack, Tobias"

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  • Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
    Iuso, Arcangela; Wiersma, Marit; Schueller, Hans-Joachim; Pode-Shakked, Ben; Marek-Yagel, Dina; Grigat, Mathias; Schwarzmayr, Thomas; Berutti, Riccardo; Alhaddad, Bader; Kanon, Bart; Grzeschik, Nicola A.; Okun, Juergen G.; Perles, Zeev; Salem, Yishay; Barel, Ortal; Vardi, Amir; Rubinshtein, Marina; Tirosh, Tal; Dubnov-Raz, Gal; Messias, Ana C.; Terrile, Caterina; Barshack, Iris; Volkov, Alex; Avivi, Camilla; Eyal, Eran; Mastantuono, Elisa; Kumbar, Muhamad; Abudi, Shachar; Braunisch, Matthias; Strom, Tim M.; Meitinger, Thomas; Hoffmann, Georg F.; Prokisch, Holger; Haack, Tobias B.; Brundel, Bianca J. J. M.; Haas, Dorothea; Sibon, Ody C. M.; Anikster, Yair (2018)
  • Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum
    Krenn, Martin; Salzer, Elisabeth; Simonitsch-Klupp, Ingrid; Rath, Jakob; Wagner, Matias; Haack, Tobias B.; Strom, Tim M.; Schaenzer, Anne; Kilimann, Manfred W.; Schmidt, Ralf L. J.; Schmetterer, Klaus G.; Zimprich, Alexander; Boztug, Kaan; Hahn, Andreas; Zimprich, Fritz (2018)
  • Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
    Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; van de Warrenburg, Bart P.; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli; Synofzik, Matthis (2021)
  • Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
    Charif, Majida; Nasca, Alessia; Thompson, Kyle; Gerber, Sylvie; Makowski, Christine; Mazaheri, Neda; Bris, Celine; Goudenege, David; Legati, Andrea; Maroofian, Reza; Shariati, Gholamreza; Lamantea, Eleonora; Hopton, Sila; Ardissone, Anna; Moroni, Isabella; Giannotta, Melania; Siegel, Corinna; Strom, Tim M.; Prokisch, Holger; Vignal-Clermont, Catherine; Derrien, Sabine; Zanlonghi, Xavier; Kaplan, Josseline; Hamel, Christian P.; Leruez, Stephanie; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pascal; White, Frances E.; Hardy, Steven A.; Barbosa, Ines A.; Simpson, Michael A.; Vara, Roshni; Trujillo, Yaumara Perdomo; Galehdari, Hamind; Deshpande, Charu; Rozet, Jean-Michel; Taylor, Robert W.; Ghezzi, Daniele; Amati-Bonneau, Patrizia; Lenaers, Guy; Haack, Tobias (2018)
  • Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
    Glasgow, Ruth I. C.; Thompson, Kyle; Barbosa, Ines A.; He, Langping; Alston, Charlotte L.; Deshpande, Charu; Simpson, Michael A.; Morris, Andrew A. M.; Neu, Axel; Loebel, Ulrike; Hall, Julie; Prokisch, Holger; Haack, Tobias B.; Hempel, Maja; McFarland, Robert; Taylor, Robert W. (2017)
  • Novel HIVEP2 Variants in Patients with Intellectual Disability
    Park, Joohyun; Colombo, Roberto; Schaeferhoff, Karin; Janiri, Luigi; Grimmel, Mona; Sturm, Marc; Grasshoff, Ute; Dufke, Andreas; Haack, Tobias B.; Kehrer, Martin (2019)
  • Novel mutation points to a hot spot inCDKN1Ccausing Silver-Russell syndrome
    Binder, Gerhard; Ziegler, Julian; Schweizer, Roland; Habhab, Wisam; Haack, Tobias B.; Heinrich, Tilman; Eggermann, Thomas (2020)
  • Novel Variants of SOX4 in Patients with Intellectual Disability
    Grosse, Martin; Kuechler, Alma; Dabir, Tabib; Spranger, Stephanie; Beck-Woedl, Stefanie; Bertrand, Miriam; Haack, Tobias B.; Grasemann, Corinna; Manka, Eva; Depienne, Christel; Kaiser, Frank J. (2023)
  • NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia
    Coutelier, Marie; Jacoupy, Maxime; Janer, Alexandre; Renaud, Flore; Auger, Nicolas; Saripella, Ganapathi-Varma; Ancien, Francois; Pucci, Fabrizio; Rooman, Marianne; Gilis, Dimitri; Lariviere, Roxanne; Sgarioto, Nicolas; Valter, Remi; Guillot-Noel, Lena; Le Ber, Isabelle; Sayah, Sabrina; Charles, Perrine; Nuemann, Astrid; Pauly, Martje G.; Helmchen, Christoph; Deininger, Natalie; Haack, Tobias B.; Brais, Bernard; Brice, Alexis; Tregouet, David-Alexandre; El Hachimi, Khalid H.; Shoubridge, Eric A.; Durr, Alexandra; Stevanin, Giovanni (2022)
  • Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort
    Nasser, Fadi; Kohl, Susanne; Kurtenbach, Anne; Kempf, Melanie; Biskup, Saskia; Zuleger, Theresia; Haack, Tobias B.; Weisschuh, Nicole; Stingl, Katarina; Zrenner, Eberhart (2022)
  • Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
    Illsinger, Sabine; Korenke, G. Christoph; Boesch, Sylvia; Nocker, Michael; Karall, Daniela; Nuoffer, Jean M.; Laugwitz, Lucia; Mayr, Johannes A.; Scholl-Burgi, Sabine; Freisinger, Peter; Kowald, Tobias; Kolker, Stefan; Prokisch, Holger; Haack, Tobias B. (2020)
  • Pathogenic variants inSQORencoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
    Friederich, Marisa W.; Elias, Abdallah F.; Kuster, Alice; Laugwitz, Lucia; Larson, Austin A.; Landry, Aaron P.; Ellwood-Digel, Logan; Mirsky, David M.; Dimmock, David; Haven, Jaclyn; Jiang, Hua; MacLean, Kenneth N.; Styren, Katie; Schoof, Jonathan; Goujon, Louise; Lefrancois, Thomas; Friederich, Maike; Coughlin, Curtis R., II; Banerjee, Ruma; Haack, Tobias B.; Van Hove, Johan L. K. (2020)
  • PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
    Kampmeier, Antje; Leitao, Elsa; Parenti, Ilaria; Beygo, Jasmin; Depienne, Christel; Bramswig, Nuria C.; Hsieh, Tzung-Chien; Afenjar, Alexandra; Beck-Woedl, Stefanie; Grasshoff, Ute; Haack, Tobias B.; Bijlsma, Emilia K.; Ruivenkamp, Claudia; Lausberg, Eva; Elbracht, Miriam; Haanpaa, Maria K.; Koillinen, Hannele; Heinrich, Uwe; Rost, Imma; Jamra, Rami Abou; Popp, Denny; Koch-Hogrebe, Margarete; Rostasy, Kevin; Lopez-Gonzalez, Vanesa; Sanchez-Soler, Maria Jose; Macedo, Catarina; Schmetz, Ariane; Steinborn, Carmen; Weidensee, Sabine; Lesmann, Hellen; Marbach, Felix; Caro, Pilar; Schaaf, Christian P.; Krawitz, Peter; Wieczorek, Dagmar; Kaiser, Frank J.; Kuechler, Alma (2023)
  • Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential
    Gburek-Augustat, Janina; Schoene-Bake, Jan-Christoph; Bueltmann, Eva; Haack, Tobias; Buchert, Rebecca; Synofzik, Matthis; Biskup, Saskia; Feuerhake, Friedrich; Sorge, Ina; Hartmann, Hans (2021)
  • Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
    Laugwitz, Lucia; Buchert, Rebecca; Groeschel, Samuel; Riess, Angelika; Grimmel, Mona; Beck-Woedl, Stefanie; Sturm, Marc; Gohla, Georg; Doebler-Neumann, Marion; Kraegeloh-Mann, Ingeborg; Haack, Tobias B. (2020)
  • Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?-Chances and challenges
    Santhanakumaran, Vidiyaah; Groeschel, Samuel; Harzer, Klaus; Kehrer, Christiane; Elguen, Saskia; Beck-Woedl, Stefanie; Hengel, Holger; Schoels, Ludger; Haack, Tobias B.; Kraegeloh-Mann, Ingeborg; Laugwitz, Lucia (2022)
  • Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
    Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B. (2017)
  • PRUNE1 Deficiency : Expanding the Clinical and Genetic Spectrum
    Alhaddad, Bader; Schossig, Anna; Haack, Tobias B.; Kovacs-Nagy, Reka; Braunisch, Matthias C.; Makowski, Christine; Senderek, Jan; Vill, Katharina; Mueller-Felber, Wolfgang; Strom, Tim M.; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole, I; Desguerre, Isabelle; Woermann, Friedrich; Rotig, Agnes; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, Rene G.; Mayr, Johannes A.; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelmaier, Felix; Koch, Johannes (2018)
  • Quality assurance within the context of genome diagnostics (a german perspective)
    Florian, Kraft; Benet-Pages, Anna; Berner, Daniel; Teubert, Anna; Eck, Sebastian; Arnold, Norbert; Bauer, Peter; Begemann, Matthias; Sturm, Marc; Kleinle, Stephanie; B. Haack, Tobias; Eggermann, Thomas (2023)
  • Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
    Carecchio, Miryam; Picillo, Marina; Valletta, Lorella; Elia, Antonio E.; Haack, Tobias B.; Cozzolino, Autilia; Vitale, Annalisa; Garavaglia, Barbara; Iuso, Arcangela; Bagella, Caterina F.; Pappata, Sabina; Barone, Paolo; Prokisch, Holger; Romito, Luigi; Tiranti, Valeria (2017)