Auflistung Universitätsbibliographie nach Autor "Döbler-Neumann, Marion"

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Auflistung Universitätsbibliographie nach Autor "Döbler-Neumann, Marion"

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  • Aicardi-Goutieres syndrome due to a paternal mosaic IFIH1 mutation
    Tuengler, Victoria; Doebler-Neumann, Marion; Salandin, Michaela; Kaufmann, Peter; Wolf, Christine; Lucas, Nadja; Harmuth, Florian; Reichbauer, Jennifer; Kraegeloh-Mann, Ingeborg; Schuele, Rebecca; Lee-Kirsch, Min Ae (2020)
  • 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)
  • Cerebellar lesions in pediatric abusive head trauma
    Haas-Lude, Karin; Roulet-Perez, Eliane; Doebler-Neumann, Marion; Groeschel, Samuel; Naegele, Thomas; Kraegeloh-Mann, Ingeborg (2019)
  • FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
    Rattay, Tim W.; Lindig, Tobias; Baets, Jonathan; Smets, Katrien; Deconinck, Tine; Soehn, Anne S.; Hoertnagel, Konstanze; Eckstein, Kathrin N.; Wiethoff, Sarah; Reichbauer, Jennifer; Doebler-Neumann, Marion; Kraegeloh-Mann, Ingeborg; Auer-Grumbach, Michaela; Plecko, Barbara; Muenchau, Alexander; Wilken, Bernd; Janauschek, Marc; Giese, Anne-Katrin; De Bleecker, Jan L.; Ortibus, Els; Debyser, Martine; Lopez de Munain, Adolfo; Pujol, Aurora; Bassi, Maria Teresa; D'Angelo, Maria Grazia; De Jonghe, Peter; Zuchner, Stephan; Bauer, Peter; Schoels, Ludger; Schuele, Rebecca (2019)
  • PIK3R1 mutations in SHORT syndrome
    Schroeder, C.; Riess, A.; Bonin, M.; Bauer, P.; Riess, O.; Doebler-Neumann, M.; Wieser, S.; Moog, U.; Tzschach, A. (2014)
  • 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)
  • Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families
    Soehn, Anne S.; Rattay, Tim W.; Beck-Woedl, Stefanie; Schaeferhoff, Karin; Monk, David; Doebler-Neumann, Marion; Hoertnagel, Konstanze; Schluter, Agatha; Ruiz, Montserrat; Pujol, Aurora; Zuchner, Stephan; Riess, Olaf; Schule, Rebecca; Bauer, Peter; Schoels, Ludger (2016)