Browsing 4 Medizinische Fakultät by Author "Haack, Tobias"

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Browsing 4 Medizinische Fakultät by Author "Haack, Tobias"

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  • Citrin deficiency mimicking mitochondrial depletion syndrome
    Gruenert, S. C.; Schumann, A.; Freisinger, P.; Rosenbaum-Fabian, S.; Schmidts, M.; Mueller, A. J.; Beck-Woedl, S.; Haack, T. B.; Schneider, H.; Fuchs, H.; Teufel, U.; Gramer, G.; Hannibal, L.; Spiekerkoetter, U. (2020)
  • Classical homocystinuria presenting with transient basal ganglia pathology and dystonia
    Averdunk, Luisa; Thimm, Eva; Klee, Dirk; Haack, Tobias B.; Distelmaier, Felix (2023)
  • Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy
    Bodenbender, Jan-Philipp; Bethge, Leon; Stingl, Katarina; Mazzola, Pascale; Haack, Tobias; Biskup, Saskia; Wissinger, Bernd; Weisschuh, Nicole; Kohl, Susanne; Kuehlewein, Laura (2024)
  • Clinical and genetic investigation of 14 families with various forms of short stature syndromes
    Khan, Fati Ullah; Khan, Hammal; Ullah, Kifayat; Nawaz, Shoaib; Khan, Muhammad Javed; Ahmed, Sohail; Ilyas, Muhammad; Ali, Amjad; Ullah, Imran; Sohail, Aamir; Hussain, Shabir; Ahmad, Farooq; Sufyan, Raza; Hayat, Amir; Hanif, Tooba; Bibi, Fatima; Hayat, Maria; Ullah, Rehmat; Khan, Inam Ullah; Ali, Raja Hussain; Hasni, Muhammad Sharif; Ali, Hamid; Bilal, Muhammad; Peralta, Susana; Buchert, Rebecca; Zehri, Zamrud; Hassan, Gul; Liaqat, Khurrum; Zahid, Muhammad; Shah, Khadim; Mikitie, Outi; Haack, Tobias B.; Ji, Weizhen; Lakhani, Saquib A.; Ansar, Muhammad; Ahmad, Wasim (2024)
  • Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders
    Nostvik, Miriam; Kateta, Sarah M.; Schonewolf-Greulich, Bitten; Afenjar, Alexandra; Barth, Magalie; Boschann, Felix; Doummar, Diane; Haack, Tobias B.; Keren, Boris; Livshits, Ludmilla A.; Mei, Davide; Park, Joohyun; Pisano, Tiziana; Prouteau, Clement; Umair, Muhammad; Waqas, Ahmed; Ziegler, Alban; Guerrini, Renzo; Moller, Rikke S.; Tumer, Zeynep (2021)
  • Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
    Vera, Gabriella; Sorlin, Arthur; Delplancq, Geoffroy; Lecoquierre, Francois; Brasseur-Daudruy, Marie; Petit, Florence; Smol, Thomas; Ziegler, Alban; Bonneau, Dominique; Colin, Estelle; Mercier, Sandra; Cogne, Benjamin; Bezieau, Stephane; Edery, Patrick; Lesca, Gaetan; Chatron, Nicolas; Sabatier, Isabelle; Duban-Bedu, Benedicte; Colson, Cindy; Piton, Amelie; Durand, Benjamin; Capri, Yline; Perrin, Laurence; Wiesener, Antje; Zweier, Christiane; Maroofian, Reza; Carroll, Christopher J.; Galehdari, Hamid; Mazaheri, Neda; Callewaert, Bert; Giulianno, Fabienne; Zaafrane-Khachnaoui, Khaoula; Buchert-Lo, Rebecca; Haack, Tobias; Magg, Janine; Riess, Angelika; Blandfort, Maria; Waldmueller, Stephan; Horber, Veronka; Leonardi, Emanuela; Polli, Roberta; Turolla, Licia; Murgia, Alessandra; Frebourg, Thierry; Lebre, Anne Sophie; Nicolas, Gael; Saugier-Veber, Pascale; Guerrot, Anne-Marie (2020)
  • Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
    Iruzubieta, Pablo; Alves, Cesar Augusto Pinheiro Ferreira; Al Shamsi, Aisha M.; Elghazali, Gehad; Zaki, Maha S.; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P. H.; Jolly, Amy A.; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Cakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schoels, Ludger; Haack, Tobias B.; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R.; Orozco, Lorena; Helmes, Karla Garcia; Babaei, Meisam; Bauer, Peter; Jeong, Won Chan; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G.; Chung, Wendy K.; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S.; Houlden, Henry; Maroofian, Reza (2024)
  • Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants
    Weisschuh, Nicole; Mazzola, Pascale; Bertrand, Miriam; Haack, Tobias B.; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina (2021)
  • Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits
    Witt, Dennis; Sturm, Marc; Staebler, Antje; Menden, Benita; Ruisinger, Lisa; Bosse, Kristin; Gruber, Ines; Hartkopf, Andreas; Gauss, Silja; Demidov, German; Casadei, Nicolas; Atienza, Elena Buena; Mehnert, Kira; Witt, Janna; Gross, Caspar; Schuetz, Leon; Schroeder, Christopher; Ossowski, Stephan; Dufke, Andreas; Haack, Tobias B.; Riess, Olaf; Faust, Ulrike (2025)
  • Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies
    Wolfram, Lasse; Merle, David A.; Kuehlewein, Laura; Reith, Milda; Kempf, Melanie; Stingl, Krunoslav; Haack, Tobias; Mazzola, Pascale; Poths, Karin; Weisschuh, Nicole; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina (2025)
  • Clinical phenotype of PDE6B-associated retinitis pigmentosa
    Kuehlewein, Laura; Zobor, Ditta; Stingl, Katarina; Kempf, Melanie; Nasser, Fadi; Bernd, Antje; Biskup, Saskia; Cremers, Frans P. M.; Khan, Muhammad Imran; Mazzola, Pascale; Schaeferhoff, Karin; Heinrich, Tilman; Haack, Tobias B.; Wissinger, Bernd; Zrenner, Eberhart; Weisschuh, Nicole; Kohl, Susanne (2021)
  • Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant
    Helal, Mayada; Mazaheri, Neda; Shalbafan, Bita; Malamiri, Reza Azizi; Dilaver, Nafi; Buchert, Rebecca; Mohammadiasl, Javad; Golchin, Neda; Sedaghat, Alireza; Mehrjardi, Mohammad Yahya Vahidi; Haack, Tobias B.; Riess, Olaf; Chung, Wendy K.; Galehdari, Hamid; Shariati, Gholamreza; Maroofian, Reza (2018)
  • Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
    Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Ding Wenhong; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; de Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W.; Haeberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia (2018)
  • Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants
    Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A. (2024)
  • Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients
    Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; van de Warrenburg, Bart; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; Koenig, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene; Synofzik, Matthis (2020)
  • Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
    Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka-Pronicka, Katarzyna; Piekutowska-Abramczuk, Dorota; Ciara, Elzbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Parul; Jayakar, Anuj; Upadia, Jariya; Walano, Nicolette; Haack, Tobias B.; Prokisch, Holger; Aldhalaan, Hesham; Karimiani, Ehsan G.; Yildiz, Yilmaz; Ceylan, Ahmet C.; Santiago-Sim, Teresa; Dameron, Amy; Yang, Hui; Toosi, Mehran B.; Ashrafzadeh, Farah; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh S.; Maqbool, Shazia; Farid, Aisha; Al-Muhaizea, Mohamed A.; Alshwameen, Meznah O.; Aldowsari, Lama; Alsagob, Maysoon; Alyousef, Ashwaq; AlMass, Rawan; AlHargan, Aljouhra; Alwadei, Ali H.; AlRasheed, Maha M.; Colak, Dilek; Alqudairy, Hanan; Khan, Sameena; Lines, Matthew A.; Cazorla, M. Angeles Garcia; Ribes, Antonia; Morava, Eva; Bibi, Farah; Haider, Shahzad; Ferla, Matteo P.; Taylor, Jenny C.; Alsaif, Hessa S.; Firdous, Abdulwahab; Hashem, Mais; Shashkin, Chingiz; Koneev, Kairgali; Kaiyrzhanov, Rauan; Efthymiou, Stephanie; Genomics, Queen Square; Schmitt-Mechelke, Thomas; Ziegler, Andreas; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Striano, Pasquale; Alkuraya, Fowzan S.; Zaki, Maha S.; Gleeson, Joseph G.; Barakat, Tahsin Stefan; Bierau, Jorgen; van der Knaap, Marjo S.; Maroofian, Reza; Houlden, Henry (2022)
  • 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)
  • Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
    Bodenbender, Jan-Philipp; Marino, Valerio; Philipp, Julia; Tropitzsch, Anke; Kernstock, Christoph; Stingl, Katarina; Kempf, Melanie; Haack, Tobias B.; Zuleger, Theresia; Mazzola, Pascale; Kohl, Susanne; Weisschuh, Nicole; Dell'Orco, Daniele; Kuehlewein, Laura (2024)