@article{UBHD-68977402,
  author={B{\"o}lsterli Heinzle, Bigna and Boltshauser, Eugen and Palmieri, Luigi and Spenger, Johannes and Brunner-Krainz, Michaela and Distelmaier, Felix and Freisinger, Peter and Geis, Tobias and Gropman, Andrea L. and H{\"a}berle, Johannes and Hentschel, Julia and Jeandidier, Bruno and Karall, Daniela and Keren, Boris and Klabunde-Cherwon, Annick and Konstantopoulou, Vassiliki and Kottke, Raimund and Lasorsa, Francesco M. and Makowski, Christine and Mignot, Cyril and O’Gorman Tuura, Ruth and Porcelli, Vito and Santer, René and Sen, Kuntal and Steinbr{\"u}cker, Katja and Syrbe, Steffen and Wagner, Matias and Ziegler, Andreas and Z{\"o}ggeler, Thomas and Mayr, Johannes A. and Prokisch, Holger and Wortmann, Saskia B.},
  title={Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier},
  year={2022},
  pages={1-30},
  language={eng},
  issn={2072-6643},
  volume={14},
  note={Gesehen am 24.10.2022},
  journal={Nutrients},
  doi={10.3390/nu14173605},
}
@article{UBHD-68711529,
  author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Ziegler, Andreas and K{\"o}lker, Stefan},
  title={Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia},
  year={2020},
  pages={2929-2944},
  language={eng},
  issn={1460-2156},
  volume={143},
  number={10 vom: Okt.},
  note={Gesehen am 11.03.2021},
  journal={Brain},
  doi={10.1093/brain/awz307},
}
@article{UBHD-68465266,
  author={Flotats Bastardas, Marina and Ziegler, Andreas},
  title={Nichtgehf{\"a}hige Patienten mit Duchenne-Muskeldystrophie},
  year={2019},
  pages={817-823},
  language={ger},
  issn={1433-0407},
  volume={90},
  number={8},
  note={Gesehen am 09.12.2019},
  journal={Der Nervenarzt},
  doi={10.1007/s00115-019-0754-y},
}
@article{UBHD-68299587,
  author={Glemser, Philip and Jaeger, Heike and Nagel, Armin Michael and Ziegler, Andreas and Simons, David and Schlemmer, Heinz-Peter and Lehmann-Horn, Frank and Jurkat-Rott, Karin and Weber, Marc-André},
  title={23Na MRI and myometry to compare eplerenone vs. glucocorticoid treatment in Duchenne dystrophy},
  year={2017},
  pages={2-13},
  language={eng},
  issn={2532-1900},
  volume={36},
  number={1},
  note={Die Zahl 23 ist im Titel hochgestellt ; Artikel ohne DOI ; Gesehen am 28.08.2018},
  journal={Acta myologica},
}
@article{UBHD-68491579,
  author={G{\"o}rlach, Jonas and Ziegler, Andreas},
  title={Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain},
  year={2020},
  pages={173-181},
  language={eng},
  issn={1097-4598},
  volume={61},
  number={2},
  note={First published: 20 November 2019 ; Gesehen am 20.02.2020},
  journal={Muscle & nerve},
  doi={10.1002/mus.26766},
}
@article{UBHD-68572710,
  author={Hagenacker, Tim and Weiler, Markus and Ziegler, Andreas},
  title={Nusinersen in adults with 5q spinal muscular atrophy},
  subtitle={a non-interventional, multicentre, observational cohort study},
  year={2020},
  pages={317-325},
  language={eng},
  issn={1474-4465},
  volume={19},
  number={4},
  note={Gesehen am 04.05.2020},
  journal={The lancet},
  doi={10.1016/S1474-4422(20)30037-5},
}
@article{UBHD-68719850,
  author={Hagen, Maja von der and Nolte-Buchholtz, Silke and Janisch, Maria and Pietz, Joachim and Blankenburg, Markus and Ziegler, Andreas},
  title={Gene-targeted therapies and palliative care in children with spinal muscular atrophy type I},
  subtitle={no intrinsic contradiction},
  year={2021},
  pages={162-163},
  language={eng},
  issn={1557-7740},
  volume={24},
  number={2},
  note={Gesehen am 01.04.2021},
  journal={Journal of palliative medicine},
  doi={10.1089/jpm.2020.0505},
}
@article{UBHD-68558308,
  author={Hayes, Jennifer and Hilgenfeld, Tim and Ziegler, Andreas and Saffari, Afshin and Sam, Georges and Hayes, John M. and Pietsch, Adriana and Jost, Marie and Heiland, Sabine and Bendszus, Martin and Wick, Wolfgang and Weiler, Markus},
  title={Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy},
  year={2019},
  pages={E653-E664},
  language={eng},
  issn={1526-632X},
  volume={93},
  number={7},
  note={Gesehen am 26.03.2020},
  journal={Neurology},
  doi={10.1212/WNL.0000000000007945},
}
@article{UBHD-68465873,
  author={Himmelreich, Nastassja and Dimitrov, Bianca and Geiger, Virginia and Zielonka, Matthias and Hutter, Anna-Marlen and Beedgen, Lars and H{\"u}llen, Andreas and Breuer, Maximilian and Peters, Verena and Thiemann, Kai Christian and Hoffmann, Georg F. and Sinning, Irmgard and Ziegler, Andreas and Thiel, Christian},
  title={Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus},
  year={2019},
  pages={938-951},
  language={eng},
  issn={1098-1004},
  volume={40},
  number={7},
  note={Gesehen am 10.12.2019},
  journal={Human mutation},
  doi={10.1002/humu.23764},
}
@article{UBHD-68865011,
  author={Keßler, Tobias and Latzer, Pauline and Schmid, Dominic and Warnken, Uwe and Saffari, Afshin and Ziegler, Andreas and Hayes, Jennifer and M{\"o}hlenbruch, Markus Alfred and Ulfert, Christian and Herweh, Christian and Wildemann, Brigitte and Wick, Wolfgang and Weiler, Markus},
  title={Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy},
  year={2020},
  pages={650-661},
  language={eng},
  issn={1471-4159},
  volume={153},
  number={5},
  note={First published: 06 January 2020 ; Gesehen am 12.01.2022},
  journal={Journal of neurochemistry},
  doi={10.1111/jnc.14953},
  url={https://doi.org/10.1111/jnc.14953},
  library={UB},
}
@article{UBHD-69312617,
  author={Kirschner, Janbernd and Bernert, G{\"u}nther and Butoianu, Nina and De Waele, Liesbeth and Fattal-Valevski, Aviva and Haberlova, Jana and Moreno, Teresa and Klein, Andrea and Kostera-Pruszczyk, Anna and Mercuri, Eugenio and Quijano-Roy, Susana and Sejersen, Thomas and Tizzano, Eduardo F. and van der Pol, W Ludo and Wallace, Sean and Zafeiriou, Dimitrios and Ziegler, Andreas and Muntoni, Francesco and Servais, Laurent},
  title={2024 update},
  subtitle={european consensus statement on gene therapy for spinal muscular atrophy},
  year={2024},
  pages={73-78},
  language={eng},
  issn={1532-2130},
  volume={51(2024) vom: Juli},
  note={Online verf{\"u}gbar: 8. Juni 2024, Artikelversion: 14. Juni 2024 ; Gesehen am 27.02.2025},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2024.06.001},
}
@article{UBHD-68678666,
  author={Kirschner, Janbernd and Butoianu, Nina and Goemans, Nathalie and Haberlova, Jana and Kostera-Pruszczyk, Anna and Mercuri, Eugenio and van der Pol, W. Ludo and Quijano-Roy, Susana and Sejersen, Thomas and Tizzano, Eduardo F. and Ziegler, Andreas and Servais, Laurent and Muntoni, Francesco},
  title={European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy},
  year={2020},
  pages={38-43},
  language={eng},
  issn={1532-2130},
  volume={28},
  note={Gesehen am 11.01.2021},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2020.07.001},
}
@article{UBHD-68749293,
  author={Kirschner, Janbernd and Butoianu, Nina and Goemans, Nathalie and Haberlova, Jana and Kostera-Pruszczyk, Anna and Mercuri, Eugenio and van der Pol, W. Ludo and Quijano-Roy, Susana and Sejersen, Thomas and Tizzano, Eduardo F. and Ziegler, Andreas and Servais, Laurent and Muntoni, Francesco},
  title={Response to letter: A decision for life - treatment decisions in newly diagnosed families with spinal muscular atrophy},
  year={2021},
  pages={103-104},
  language={eng},
  issn={1532-2130},
  volume={30},
  note={Online 14 December 2020 ; Gesehen am 16.06.2021},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2020.12.005},
}
@article{UBHD-68475285,
  author={Le Duc, Diana and Kotzaeridou, Urania and Syrbe, Steffen and Driedger, Jan Henje and Ziegler, Andreas},
  title={Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size},
  year={2019},
  pages={2617-2630},
  language={eng},
  issn={1460-2156},
  volume={142},
  number={9},
  note={Gesehen am 14.01.2020},
  journal={Brain},
  doi={10.1093/brain/awz198},
}
@article{UBHD-68220054,
  author={Micalizzi, Alessia and Ziegler, Andreas},
  title={Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)},
  year={2016},
  pages={1262-1267},
  language={eng},
  issn={1476-5438},
  volume={24},
  number={9},
  note={Gesehen am 14.02.2018},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2016.19},
}
@article{UBHD-69093220,
  author={M{\"u}ller-Felber, Wolfgang and Blaschek, Astrid and Schwartz, Oliver and Gl{\"a}ser, Dieter and Nennstiel, Uta and Brockow, Inken and Wirth, Brunhilde and Burggraf, Siegfried and R{\"o}schinger, Wulf and Becker, Marc and Durner, J{\"u}rgen and Eggermann, Katja and K{\"o}lbel, Heike and M{\"u}ller, Christine and Hannibal, Iris and Olgem{\"o}ller, Bernd and Schara, Ulrike and von Moers, Arpad and Trollmann, Regina and Johannssen, Jessika and Ziegler, Andreas and Cirak, Sebahattin and Hahn, Andreas and von der Hagen, Maja and Weiss, Claudia and Schreiber, Gudrun and Flotats-Bastardas, Marina and Hartmann, Hans and Illsinger, Sabine and Pechmann, Astrid and Horber, Veronka and Kirschner, Janbernd and K{\"o}hler, Cornelia and Winter, Benedikt and Friese, Johannes and Vill, Katharina},
  title={Newbornscreening SMA},
  subtitle={from pilot project to nationwide screening in Germany},
  year={2023},
  pages={55-65},
  language={eng},
  issn={2214-3602},
  volume={10},
  number={1},
  note={Gesehen am 04.07.2023},
  journal={Journal of neuromuscular diseases},
  doi={10.3233/JND-221577},
}
@article{UBHD-69065521,
  author={Opladen, Thomas and Brennenstuhl, Heiko and Kuseyri H{\"u}bschmann, Oya and Call, Debora and Green, Kim and Schara, Ulrike and Rascher, Wolfgang and H{\"o}vel, Annegret and Assmann, Birgit and K{\"o}lker, Stefan and Westhoff, Jens and Walter, Magdalena and Ziegler, Andreas and Hoffmann, Georg F. and Kiening, Karl},
  title={Die intrazerebrale Gentherapie des Aromatischen-L-Aminos{\"a}ure-Decarboxylase-Mangels mit Eladocagene exuparvovec},
  year={2021},
  pages={738-747},
  language={ger},
  issn={1433-0474},
  volume={169},
  number={8},
  note={Gesehen am 14.04.2023},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-021-01232-7},
  url={https://doi.org/10.1007/s00112-021-01232-7},
  library={UB},
}
@article{UBHD-69092776,
  author={Pechmann, Astrid and Behrens, Max and D{\"o}rnbrack, Katharina and Tassoni, Adrian and Wenzel, Franziska and Stein, Sabine and Vogt, Sibylle and Z{\"o}ller, Daniela and Bernert, G{\"u}nther and Hagenacker, Tim and Schara-Schmidt, Ulrike and Walter, Maggie C. and Steinbach, Meike and Blaschek, Astrid and Baumann, Matthias and Baumgartner, Manuela and Becker, Benedikt and Flotats-Bastardas, Marina and Friese, Johannes and G{\"u}nther, Rene and Hahn, Andreas and K{\"u}pper, Hanna and Johannsen, Jessika and Kamm, Christoph and Koch, Jan Christoph and K{\"o}hler, Cornelia and K{\"o}lbel, Heike and Kolzter, Kirsten and von Moers, Arpad and N{\"a}gel, Steffen and Neuwirth, Christoph and Petri, Susanne and R{\"o}diger, Annekathrin and Schimmel, Mareike and Schrank, Bertold and Schreiber, Gudrun and Smitka, Martin and Stadler, Christian and Steiner, Elisabeth and St{\"o}gmann, Eva and Trollmann, Regina and T{\"u}rk, Matthias and Weiler, Markus and Stoltenburg, Corinna and Willichowsky, Ekkehard and Zeller, Daniel and Ziegler, Andreas and Lochm{\"u}ller, Hanns and Kirschner, Janbernd},
  title={Improvements in walking distance during nusinersen treatment},
  subtitle={a prospective 3-year SMArtCARE registry study},
  year={2023},
  pages={29-40},
  language={eng},
  issn={2214-3602},
  volume={10},
  number={1},
  note={Gesehen am 04.07.2023},
  journal={Journal of neuromuscular diseases},
  doi={10.3233/jnd-221600},
}
@article{UBHD-68867300,
  author={Richard, Elodie M. and Bakhtiari, Somayeh and Marsh, Ashley P. L. and Kaiyrzhanov, Rauan and Wagner, Matias and Shetty, Sheetal and Pagnozzi, Alex and Nordlie, Sandra M. and Guida, Brandon S. and Cornejo, Patricia and Magee, Helen and Liu, James and Norton, Bethany Y. and Webster, Richard I. and Worgan, Lisa and Hakonarson, Hakon and Li, Jiankang and Guo, Yiran and Jain, Mahim and Blesson, Alyssa and Rodan, Lance H. and Abbott, Mary-Alice and Comi, Anne and Cohen, Julie S. and Alhaddad, Bader and Meitinger, Thomas and Lenz, Dominic and Ziegler, Andreas and Kotzaeridou, Urania and Brunet, Theresa and Chassevent, Anna and Smith-Hicks, Constance and Ekstein, Joseph and Weiden, Tzvi and Hahn, Andreas and Zharkinbekova, Nazira and Turnpenny, Peter and Tucci, Arianna and Yelton, Melissa and Horvath, Rita and Gungor, Serdal and Hiz, Semra and Oktay, Yavuz and Lochmuller, Hanns and Zollino, Marcella and Morleo, Manuela and Marangi, Giuseppe and Nigro, Vincenzo and Torella, Annalaura and Pinelli, Michele and Amenta, Simona and Husain, Ralf A. and Grossmann, Benita and Rapp, Marion and Steen, Claudia and Marquardt, Iris and Grimmel, Mona and Grasshoff, Ute and Korenke, Christoph and Owczarek-Lipska, Marta and Neidhardt, John and Radio, Francesca Clementina and Mancini, Cecilia and Claps Sepulveda, Dianela Judith and McWalter, Kirsty and Begtrup, Amber and Crunk, Amy and Guillen Sacoto, Maria J. and Person, Richard and Schnur, Rhonda E. and Mancardi, Maria Margherita and Kreuder, Florian and Striano, Pasquale and Zara, Federico and Chung, Wendy K. and Marks, Warren A. and van Eyk, Clare L. and Webber, Dani L. and Corbett, Mark A. and Harper, Kelly and Berry, Jesia G. and MacLennan, Alastair H. and Gecz, Jozef and Tartaglia, Marco and Salpietro, Vincenzo and Christodoulou, John and Kaslin, Jan and Padilla-Lopez, Sergio and Bilguvar, Kaya and Munchau, Alexander and Ahmed, Zubair M. and Hufnagel, Robert B. and Fahey, Michael C. and Maroofian, Reza and Houlden, Henry and Sticht, Heinrich and Mane, Shrikant M. and Rad, Aboulfazl and Vona, Barbara and Jin, Sheng Chih and Haack, Tobias B. and Makowski, Christine and Hirsch, Yoel and Riazuddin, Saima and Kruer, Michael C.},
  title={Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss},
  year={2021},
  pages={2006-2016},
  language={eng},
  issn={1537-6605},
  volume={108},
  number={10},
  note={Gesehen am 17.01.2022},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2021.08.003},
}
@article{UBHD-68866808,
  author={Saffari, Afshin and Cannet, Claire and Blaschek, Astrid and Hahn, Andreas and Hoffmann, Georg F. and Johannsen, Jessika and Kirsten, Romy and Kockaya, Musa and K{\"o}lker, Stefan and M{\"u}ller-Felber, Wolfgang and Roos, Andreas and Sch{\"a}fer, Hartmut and Schara, Ulrike and Spraul, Manfred and Trefz, Friedrich K. and Vill, Katharina and Wick, Wolfgang and Weiler, Markus and Okun, J{\"u}rgen G. and Ziegler, Andreas},
  title={1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy},
  year={2021},
  pages={1-16},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 441},
  note={Im Text ist "1" hochgestellt ; Gesehen am 15.01.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-02075-x},
  url={https://doi.org/10.1186/s13023-021-02075-x},
  library={UB},
}
@article{UBHD-68716876,
  author={Saffari, Afshin and Ziegler, Andreas and Merkenschlager, Andreas and Kr{\"u}ger, Stefan and K{\"o}lker, Stefan and Hoffmann, Georg F. and Syrbe, Steffen},
  title={Axenfeld-Rieger anomaly and neuropsychiatric problems},
  subtitle={more than meets the eye},
  year={2020},
  pages={192-197},
  language={eng},
  issn={1439-1899},
  volume={51},
  number={03},
  note={Gesehen am 25.03.2021},
  journal={Neuropediatrics},
  doi={10.1055/s-0039-3402037},
}
@article{UBHD-68442713,
  author={Saffari, Afshin and Weiler, Markus and Hoffmann, Georg F. and Ziegler, Andreas},
  title={Gentherapien f{\"u}r neuromuskul{\"a}re Erkrankungen},
  year={2019},
  pages={809-816},
  language={ger},
  issn={1433-0407},
  volume={90},
  number={8},
  note={Gesehen am 21.10.2019},
  journal={Der Nervenarzt},
  doi={10.1007/s00115-019-0761-z},
}
@article{UBHD-69346284,
  author={Saffari, Afshin and Niesert, Moritz and Cannet, Claire and Blaschek, Astrid and Hahn, Andreas and Johannsen, Jessika and Kockaya, Musa and K{\"o}lbel, Heike and Hoffmann, Georg F. and Claus, Peter and K{\"o}lker, Stefan and M{\"u}ller-Felber, Wolfgang and Roos, Andreas and Schara-Schmidt, Ulrike and Trefz, Friedrich K. and Vill, Katharina and Wick, Wolfgang and Weiler, Markus and Okun, J{\"u}rgen G. and Ziegler, Andreas},
  title={Identification of biochemical determinants for diagnosis and prediction of severity in 5q spinal muscular atrophy using 1H-nuclear magnetic resonance metabolic profiling in patient-derived biofluids},
  year={2024},
  pages={1-19},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={25},
  note={Die Ziffer 1 ist im Titel hochgestellt ; Gesehen am 20.05.2025},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms252212123},
}
@article{UBHD-68389614,
  author={Saffari, Afshin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Weiler, Markus and Ziegler, Andreas},
  title={Novel challenges in spinal muscular atrophy},
  subtitle={How to screen and whom to treat?},
  year={2019},
  pages={197-205},
  language={eng},
  issn={2328-9503},
  volume={6},
  number={1},
  note={First published: 13 November 2018 ; Gesehen am 14.05.2019},
  journal={Annals of Clinical and Translational Neurology},
  doi={10.1002/acn3.689},
}
@article{UBHD-68431902,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study},
  year={2019},
  pages={1-13},
  language={eng},
  issn={1750-1172},
  volume={14},
  number={Artikel-ID 96},
  note={Gesehen am 20.09.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1077-6},
  url={https://doi.org/10.1186/s13023-019-1077-6},
  library={UB},
}
@book{UBHD-68412598,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age},
  subtitle={a multicenter retrospective study},
  publisher={BioMed Central},
  address={London},
  year={2019},
  pages={1 Online-Ressource},
  language={eng},
  note={In: Orphanet journal of rare diseases, 14 (2019), Nr. 96. pp. 1-13. ISSN 1750-1172},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-264004},
  library={UB},
}
@article{UBHD-69260341,
  author={Schwartz, Oliver and Vill, Katharina and Pfaffenlehner, Michelle and Behrens, Max and Weiß, Claudia and Johannsen, Jessika and Friese, Johannes and Hahn, Andreas and Ziegler, Andreas and Illsinger, Sabine and Smitka, Martin and Moers, Arpad von and K{\"o}lbel, Heike and Schreiber, Gudrun and Kaiser, Nadja and Wilichowski, Ekkehard and Flotats Bastardas, Marina and Husain, Ralf and Baumann, Matthias and K{\"o}hler, Cornelia and Trollmann, Regina and Schwerin-Nagel, Annette and Eisenk{\"o}lbl, Astrid and Schimmel, Mareike and Fleger, Martin and Kauffmann, Birgit and Wiegand, Gert and Baumgartner, Manuela and Rauschert, Christian and Cirak, Sebahattin and Gl{\"a}ser, Dieter and Bernert, G{\"u}nther and Hagenacker, Tim and Goldbach, Susanne and Probst-Schendzielorz, Kristina and Lochm{\"u}ller, Hanns and M{\"u}ller-Felber, Wolfgang and Schara, Ulrike and Walter, Maggie C. and Kirschner, Janbernd and Pechmann, Astrid},
  title={Clinical effectiveness of newborn screening for spinal muscular atrophy},
  subtitle={a nonrandomized controlled trial},
  year={2024},
  pages={540-547},
  language={eng},
  issn={2168-6211},
  volume={178},
  number={6},
  note={Gesehen am 08.10.2024},
  journal={JAMA pediatrics},
  doi={10.1001/jamapediatrics.2024.0492},
}
@article{UBHD-69185097,
  author={Specht, Sabine and Zhukova, Irina and Westhoff, Jens and Erb, Larissa Diana and Ziegler, Andreas and K{\"o}lker, Stefan and Hoffmann, Georg F. and Hagmann, Sébastien and Syrbe, Steffen},
  title={Fat embolism syndrome in Duchenne muscular dystrophy},
  subtitle={report on a novel case and systematic literature review},
  year={2024},
  pages={91-100},
  language={eng},
  issn={1532-2130},
  volume={48(2024) vom: Jan.},
  note={Online verf{\"u}gbar: 6. Dezember 2023, Artikelversion: 13. Dezember 2023 ; Gesehen am 23.02.2024},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2023.11.012},
}
@article{UBHD-68635168,
  author={Syrbe, Steffen and Stettner, Georg M. and Bally, Julien and Borggraefe, Ingo and Bien, Corinna I. and Ferfoglia, Ruxandra Iancu and Huppke, Peter and Kern, Jan and Polster, Tilman and Probst-M{\"u}ller, Elisabeth and Schmid, Silvia and Steinfeld, Robert and Strozzi, Susi and Weichselbaum, Annette and Weitz, Marcus and Ziegler, Andreas and Wandinger, Klaus-Peter and Leypoldt, Frank and Bien, Christian G.},
  title={CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension},
  year={2020},
  pages={e2290-e2301},
  language={eng},
  issn={1526-632X},
  volume={94},
  number={22},
  note={Gesehen am 07.09.2020},
  journal={Neurology},
  doi={10.1212/WNL.0000000000009523},
}
@article{UBHD-69354691,
  author={Tapken, Ines Marlene and Schweitzer, Theresa and Paganin, Martina and Sch{\"u}ning, Tobias and Detering, Nora Tula and Niesert, Moritz and Saffari, Afshin and Hensel, Niko and Ziegler, Andreas},
  title={The systemic complexity of a monogenic disease},
  subtitle={the molecular network of spinal muscular atrophy},
  year={2025},
  pages={580-596},
  language={eng},
  issn={1460-2156},
  volume={148},
  number={2 vom: Feb.},
  note={Ver{\"o}ffentlicht: 26. August 2024 ; Gesehen am 10.06.2025},
  journal={Brain},
  doi={10.1093/brain/awae272},
}
@article{UBHD-69253816,
  author={Vill, Katharina and Kamm, Christoph and Mensch, Alexander and Weiler, Markus and Ziegler, Andreas},
  title={5qSMA},
  subtitle={standardised retrospective natural history assessment in 268 patients with four copies of SMN2},
  year={2024},
  pages={2787-2797},
  language={eng},
  issn={1432-1459},
  volume={271},
  number={5},
  note={Gesehen am 17.09.2024},
  journal={Journal of neurology},
  doi={10.1007/s00415-024-12188-5},
}
@article{UBHD-69339847,
  author={Weiß, Claudia and Becker, Lena-Luise and Friese, Johannes and Blaschek, Astrid and Hahn, Andreas and Illsinger, Sabine and Schwartz, Oliver and Bernert, G{\"u}nther and Hagen, Maja von der and Husain, Ralf A. and Goldhahn, Klaus and Kirschner, Janbernd and Pechmann, Astrid and Flotats-Bastardas, Marina and Schreiber, Gudrun and Schara, Ulrike and Plecko, Barbara and Trollmann, Regina and Horber, Veronka and Wilichowski, Ekkehard and Baumann, Matthias and Klein, Andrea and Eisenk{\"o}lbl, Astrid and K{\"o}hler, Cornelia and Stettner, Georg M. and Cirak, Sebahattin and Hasselmann, Oswald and Kaindl, Angela M. and Garbade, Sven and Johannsen, Jessika and Ziegler, Andreas},
  title={Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region},
  subtitle={a population-based observational study},
  year={2024},
  pages={1-13},
  language={eng},
  issn={2666-7762},
  volume={47(2024) vom: Dez.},
  number={Artikel-ID 101092},
  note={Online verf{\"u}gbar: 07. Oktober 2024 ; Gesehen am 28.04.2025},
  journal={The lancet},
  doi={10.1016/j.lanepe.2024.101092},
}
@article{UBHD-69043866,
  author={Weiß, Claudia and Ziegler, Andreas and Becker, Lena-Luise and Johannsen, Jessika and Brennenstuhl, Heiko and Schreiber, Gudrun and Flotats-Bastardas, Marina and Stoltenburg, Corinna and Hartmann, Hans and Illsinger, Sabine and Denecke, Jonas and Pechmann, Astrid and M{\"u}ller-Felber, Wolfgang and Vill, Katharina and Blaschek, Astrid and Smitka, Martin and van der Stam, Lieske and Weiss, Katja and Winter, Benedikt and Goldhahn, Klaus and Plecko, Barbara and Horber, Veronka and Bernert, G{\"u}nther and Husain, Ralf A and Rauscher, Christian and Trollmann, Regina and Garbade, Sven and Hahn, Andreas and von der Hagen, Maja and Kaindl, Angela M},
  title={Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg},
  subtitle={an observational cohort study},
  year={2022},
  pages={17-27},
  language={eng},
  issn={2352-4650},
  volume={6},
  number={1},
  note={Online verf{\"u}gbar 29 Oktober 2021, Artikelversion 15 Dezember 2021 ; Gesehen am 21.02.2023},
  journal={The lancet child & adolescent health},
  doi={10.1016/S2352-4642(21)00287-X},
}
@book{UBHD-66496599,
  author={Ziegler, Andreas},
  title={Expositionsstudie zu chemosensorischen Effekten von epsilon-Caprolactam im Niedrigkonzentrationsbereich},
  year={2008},
  pages={VII, 139 Bl.},
  language={ger},
  school={Heidelberg, Univ., Diss., 2008},
  library={UB [Signatur: 2008 U 291]},
}
@article{UBHD-68806385,
  author={Ziegler, Andreas and Wilichowski, Ekkehard and Schara, Ulrike and Hahn, Andreas and M{\"u}ller-Felber, Wolfgang and Johannsen, Jessika and Hagen, Maja von der and Moers, Arpad von and Stoltenburg, Corinna and Saffari, Afshin and Walter, Maggie C. and Husain, Ralf and Pechmann, Astrid and K{\"o}hler, Cornelia and Horber, Veronka and Schwartz, Oliver and Kirschner, Janbernd},
  title={Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec - AVXS-101},
  subtitle={Konsensuspapier der deutschen Vertretung der Gesellschaft f{\"u}r Neurop{\"a}diatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft f{\"u}r Muskelkranke (DGM) e.V.},
  year={2020},
  pages={518-529},
  language={ger},
  issn={1433-0407},
  volume={91},
  number={6},
  note={Gesehen am 30.11.2021},
  journal={Der Nervenarzt},
  doi={10.1007/s00115-020-00919-8},
  url={https://doi.org/10.1007/s00115-020-00919-8},
  library={UB},
}
@article{UBHD-68895333,
  author={Ziegler, Andreas},
  title={Pr{\"a}zisionsmedizin in der Kinderneurologie am Beispiel der neuen Therapien},
  year={2022},
  pages={122-134},
  language={ger and eng},
  issn={1433-0407},
  volume={93},
  number={2 vom: Feb.},
  note={Gesehen am 16.03.2022},
  journal={Der Nervenarzt},
  doi={10.1007/s00115-021-01251-5},
}