Auflistung Universitätsbibliographie nach Autor "Laugwitz, Lucia"

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Auflistung Universitätsbibliographie nach Autor "Laugwitz, Lucia"

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  • Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
    Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne; Haack, Tobias B. (2018)
  • Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease
    Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Goericke, Sophia L.; Lingor, Paul; Brueggemann, Norbert; Muenchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack, Tobias B.; Distelmaier, Felix; Deschauer, Marcus (2022)
  • Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
    Husain, Ralf A.; Grimmel, Mona; Wagner, Matias; Hennings, J. Christopher; Marx, Christian; Feichtinger, Rene G.; Saadi, Abdelkrim; Rostasy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Doebler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Firouzabadi, Saghar Ghasemi; Huebner, Antje K.; Buchert, Rebecca; Beck-Woedl, Stefanie; Mueller, Amelie J.; Laugwitz, Lucia; Naegele, Thomas; Wang, Zhao-Qi; Strom, Tim M.; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Huebner, Christian A.; Deschauer, Marcus; Mayr, Johannes A.; Bonnen, Penelope E.; Kraegeloh-Mann, Ingeborg; Wortmann, Saskia B.; Haack, Tobias B. (2020)
  • Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
    Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry (2022)
  • Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome
    Donkervoort, Sandra; Mohassel, Payam; Laugwitz, Lucia; Zaki, Maha S.; Kamsteeg, Erik-Jan; Maroofian, Reza; Chao, Katherine R.; Verschuuren-Bemelmans, Corien C.; Horber, Veronka; Fock, Annemarie J. M.; McCarty, Riley M.; Jain, Minal S.; Biancavilla, Victoria; McMacken, Grace; Nalls, Matthew; Voermans, Nicol C.; Elbendary, Hasnaa M.; Snyder, Molly; Cai, Chunyu; Lehky, Tanya J.; Stanley, Valentina; Iannaccone, Susan T.; Foley, A. Reghan; Lochmueller, Hanns; Gleeson, Joseph; Houlden, Henry; Haack, Tobias B.; Horvath, Rita; Bonnemann, Carsten G. (2020)
  • 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)
  • Genetic basis of neurodevelopmental disorders in 103 Jordanian families
    Froukh, Tawfiq; Nafie, Omar; Al Hait, Sana' A. S.; Laugwitz, Lucia; Sommerfeld, Julia; Sturm, Marc; Baraghiti, Aya; Issa, Tala; Al-Nazer, Anis; Koch, Philipp A.; Hanselmann, Johannes; Kootz, Beate; Bauer, Peter; Al-Ameri, Wael; Abou Jamra, Rami; Alfrook, Ayman J.; Hamadallah, Moath; Sofan, Linda; Riess, Angelika; Haack, Tobias B.; Riess, Olaf; Buchert, Rebecca (2020)
  • Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1
    Lenz, Dominic; Smith, Desiree E. C.; Crushell, Ellen; Husain, Ralf A.; Salomons, Gajja S.; Alhaddad, Bader; Bernstein, Jonathan A.; Bianzano, Alyssa; Biskup, Saskia; Brennenstuhl, Heiko; Caldari, Dominique; Dikow, Nicola; Haack, Tobias B.; Hanson-Kahn, Andrea; Harting, Inga; Horn, Denise; Hughes, Joanne; Huijberts, Maya; Isidor, Bertrand; Kathemann, Simone; Kopajtich, Robert; Kotzaeridou, Urania; Kuery, Sebastien; Lainka, Elke; Laugwitz, Lucia; Lupski, James R.; Posey, Jennifer E.; Reynolds, Claire; Rosenfeld, Jill A.; Schroeter, Julian; Vansenne, Fleur; Wagner, Matias; Weiss, Claudia; Wolffenbuttel, Bruce H. R.; Wortmann, Saskia B.; Koelker, Stefan; Hoffmann, Georg F.; Prokisch, Holger; Mendes, Marisa, I; Staufner, Christian (2020)
  • Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy
    Cabanillas Stanchi, Karin Melanie; Boehringer, Judith; Stroelin, Manuel; Groeschel, Samuel; Lenglinger, Katrin; Treuner, Claudia; Kehrer, Christiane; Laugwitz, Lucia; Bevot, Andrea; Kaiser, Nadja; Schumm, Michael; Lang, Peter; Handgretinger, Rupert; Kraegeloh-Mann, Ingeborg; Mueller, Ingo; Doering, Michaela (2022)
  • Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
    Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix (2022)
  • Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
    Kozich, Viktor; Schwahn, Bernd C.; Sokolova, Jitka; Krizkova, Michaela; Ditroi, Tamas; Krijt, Jakub; Khalil, Youssef; Krizek, Tomas; Vaculikova-Fantlova, Tereza; Stiburkova, Blanka; Mills, Philippa; Clayton, Peter; Barvikova, Kristyna; Blessing, Holger; Sykut-Cegielska, Jolanta; Dionisi-Vici, Carlo; Gasperini, Serena; Garcia-Cazorla, Angeles; Haack, Tobias B.; Honzik, Tomas; Jesina, Pavel; Kuster, Alice; Laugwitz, Lucia; Martinelli, Diego; Porta, Francesco; Santer, Rene; Schwarz, Guenter; Nagy, Peter (2022)
  • MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation
    Feldmann, Joana; Martin, Pascal; Bender, Benjamin; Laugwitz, Lucia; Zizmare, Laimdota; Trautwein, Christoph; Krageloh-Mann, Ingeborg; Klose, Uwe; Groeschel, Samuel (2023)
  • Neuroimaging in Primary Coenzyme-Q(10)-Deficiency Disorders
    Muench, Juliane; Prasuhn, Jannik; Laugwitz, Lucia; Fung, Cheuk-Wing; Chung, Brian H. -Y.; Bellusci, Marcello; Mayatepek, Ertan; Klee, Dirk; Distelmaier, Felix (2023)
  • 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)
  • 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)