@incollection{UBHD-68387721,
  author={Assmann, Birgit and Bierau, J{\"o}rgen},
  title={Defekte des Purin- und des Pyrimidinstoffwechsels},
  year={2014},
  pages={577-579},
  language={ger},
  isbn={978-3-642-41866-2},
  booktitle={P{\"a}diatrie},
  editor={Hoffmann, Georg F. and Lentze, Michael J. and Spranger, J{\"u}rgen and Zepp, Fred},
  doi={10.1007/978-3-642-41866-2_59},
}
@article{UBHD-68901322,
  author={Assmann, Birgit and Hackler, R. and Peters, Verena and Schaefer, J. R. and Arndt, T. and Mayatepek, Ertan and Jaeken, J. and Hoffmann, Georg F.},
  title={A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations},
  year={2001},
  pages={313-318},
  language={eng},
  issn={1439-1899},
  volume={32},
  number={06},
  note={Elektronische Reproduktion der Druck-Ausgabe 27. Februar 2002 ; Gesehen am 30.03.2022},
  journal={Neuropediatrics},
  doi={10.1055/s-2001-20407},
}
@article{UBHD-68902202,
  author={Assmann, Birgit and K{\"o}hler, Martin and Hoffmann, Georg F. and Heales, Simon and Surtees, Robert},
  title={Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia},
  year={2002},
  pages={91-94},
  language={eng},
  issn={1530-0447},
  volume={52},
  number={1},
  note={Gesehen am 31.03.2022},
  journal={Pediatric research},
  doi={10.1203/00006450-200207000-00017},
}
@article{UBHD-68257727,
  author={Boy, Nikolas and Haege, Gisela and Heringer-Seifert, Jana and Assmann, Birgit and Hoffmann, Georg F. and M{\"u}ller, Edith and Burgard, Peter and K{\"o}lker, Stefan},
  title={Low lysine diet in glutaric aciduria type I - effect on anthropometric and biochemical follow-up parameters},
  year={2013},
  pages={525-533},
  language={eng},
  issn={1573-2665},
  volume={36},
  number={3},
  note={First Online: 13 September 2012 ; Gesehen am 05.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-012-9517-7},
}
@article{UBHD-68257733,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Assmann, Birgit and Burgard, Peter and Harting, Inga and Hoffmann, Georg F. and Okun, J{\"u}rgen G. and Opladen, Thomas and Posset, Roland and Sahm, Katja and K{\"o}lker, Stefan},
  title={Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I},
  subtitle={second revision},
  year={2017},
  pages={75-101},
  language={eng},
  issn={1573-2665},
  volume={40},
  number={1},
  note={Published online: 16 November 2016 ; Gesehen am 05.06.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9999-9},
}
@article{UBHD-68431129,
  author={Brennenstuhl, Heiko and Jung-Klawitter, Sabine and Assmann, Birgit and Opladen, Thomas},
  title={Inherited disorders of neurotransmitters},
  subtitle={classification and practical approaches for diagnosis and treatment},
  year={2019},
  pages={2-14},
  language={eng},
  issn={1439-1899},
  volume={50},
  number={1},
  note={29. Oktober 2018 ; Gesehen am 18.09.2019},
  journal={Neuropediatrics},
  doi={10.1055/s-0038-1673630},
}
@article{UBHD-68687473,
  author={Brennenstuhl, Heiko and Didiasova, Miroslava and Assmann, Birgit and Bertoldi, Mariarita and Molla, Gianluca and Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya and Schr{\"o}ter, Julian and Opladen, Thomas and Tikkanen, Ritva},
  title={Succinic semialdehyde dehydrogenase deficiency},
  subtitle={in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1},
  year={2020},
  pages={1-15},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={21},
  note={Gesehen am 02.02.2021},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms21228578},
}
@article{UBHD-68216478,
  author={Colin, Estelle and Assmann, Birgit and Christ, Stine and Hoffmann, Georg F.},
  title={Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy},
  year={2016},
  pages={695-703},
  language={eng},
  issn={1537-6605},
  volume={99},
  number={3},
  note={Gesehen am 02.02.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2016.06.030},
}
@article{UBHD-68951136,
  author={Dobritzsch, Doreen and Meijer, Judith and Meinsma, Rutger and Maurer, Dirk and Monavari, Ardeshir A. and Gummesson, Anders and Reims, Annika and Cayuela, Jorge A. and Kuklina, Natalia and Benoist, Jean-François and Perrin, Laurence and Assmann, Birgit and Hoffmann, Georg F. and Bierau, J{\"o}rgen and Kaindl, Angela M. and van Kuilenburg, André B. P.},
  title={β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity},
  year={2022},
  pages={177-185},
  language={eng},
  issn={1096-7206},
  volume={136},
  number={3},
  note={Gesehen am 08.08.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.01.102},
}
@article{UBHD-68721407,
  author={Ebrahimi-Fakhari, Darius and Kang, Keun-Sun and Kotzaeridou, Urania and Kohlhase, J{\"u}rgen and Klein, Christine and Assmann, Birgit},
  title={Child neurology},
  subtitle={PRRT2-associated movement disorders and differential diagnoses},
  year={2014},
  pages={1680-1683},
  language={eng},
  issn={1526-632X},
  volume={83},
  number={18},
  note={Gesehen am 08.04.2021},
  journal={Neurology},
  doi={10.1212/WNL.0000000000000936},
}
@article{UBHD-68033855,
  author={Ebrahimi-Fakhari, Darius and Maas, Bianca and Hinderhofer, Katrin and Assmann, Birgit and Runz, Heiko},
  title={Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features : clinical observations},
  year={2015},
  pages={115-118},
  language={eng},
  issn={1873-5150},
  volume={52},
  number={1},
  note={Available online 17 September 2014 ; Gesehen am 29.09.2015},
  journal={Pediatric neurology},
  doi={10.1016/j.pediatrneurol.2014.08.021},
}
@article{UBHD-68319619,
  author={Evers, Christina and Seitz, Angelika and Assmann, Birgit and Opladen, Thomas and Karch, Stephanie and Hinderhofer, Katrin and Granzow, Martin and Paramasivam, Nagarajan and Eils, Roland and Bartram, Claus R. and Moog, Ute},
  title={Diagnosis of CoPAN by whole exome sequencing},
  subtitle={waking up a sleeping tiger's eye},
  year={2017},
  pages={1878-1886},
  language={eng},
  issn={1552-4833},
  volume={173},
  number={7},
  note={Gesehen am 22.10.2018},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.38252},
}
@article{UBHD-68576386,
  author={Klein, Christine and Lang, Anthony and Warrenburg, Bart P. van de and Sue, Carolyn M. and Tabrizi, Sarah J. and Bertram, Lars and Mercimek‐Mahmutoglu, Saadet and Ebrahimi-Fakhari, Darius and Warner, Thomas T. and Durr, Alexandra and Assmann, Birgit and Kostic, Vladimir and Lohmann, Katja and Marras, Connie},
  title={Reply letter to Jinnah “Locus pocus” and Albanese “Complex dystonia is not a category in the new 2013 consensus classification”},
  subtitle={Necessary evolution, no magic!},
  year={2016},
  pages={1760-1762},
  language={eng},
  issn={1531-8257},
  volume={31},
  number={11},
  note={Gesehen am 13.05.2020},
  journal={Movement disorders},
  doi={10.1002/mds.26763},
}
@article{UBHD-68909440,
  author={Kuseyri H{\"u}bschmann, Oya and Horvath, Gabriella and Cortès-Saladelafont, Elisenda and Yıldız, Yılmaz and Pons, Roser and Friedman, Jennifer and Mercimek-Andrews, Saadet and Wong, Suet-Na and Pearson, Toni S. and Zafeiriou, Dimitrios I. and Kulhánek, Jan and Kurian, Manju A. and López-Laso, Eduardo and Oppebøen, Mari and Kılavuz, Sebile and Wassenberg, Tessa and Goez, Helly and Scholl-B{\"u}rgi, Sabine and Porta, Francesco and Honzík, Tomáš and Santer, René and Burlina, Alberto and Sivri, H. Serap and Leuzzi, Vincenzo and Hoffmann, Georg F. and Jeltsch, Kathrin and H{\"u}bschmann, Daniel and Garbade, Sven F. and Assmann, Birgit and Fung, Cheuk-Wing and Guder, Philipp and Hong, Stacey Tay Kiat and Karall, Daniela and Kato, Mitsuhiro and Kavecan, Ivana and Koht, Jeanette Aimee and Kuster, Alice and L{\"u}cke, Thomas and Manti, Filippo and Mir, Pablo and M{\"u}hlhausen, Chris and {\"O}nenli Mungan, Halise Neslihan and Palacios, Natalia Alexandra Julia and Ramos, Joaquín Alejandro Fernández and Steel, Dora and Stevanović, Galina and Sykut-Cegielska, Jolanta and Verbeek, Marcel M. and García-Cazorla, Angeles and Opladen, Thomas},
  title={Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines},
  year={2021},
  pages={1-13},
  language={eng},
  issn={2041-1723},
  volume={12},
  number={Artikel-ID 5529},
  note={Gesehen am 21.04.2022},
  journal={Nature Communications},
  doi={10.1038/s41467-021-25515-5},
  url={https://doi.org/10.1038/s41467-021-25515-5},
  library={UB},
}
@article{UBHD-68310709,
  author={Lange, Lara and Assmann, Birgit},
  title={A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia},
  year={2017},
  pages={1495-1497},
  language={eng},
  issn={1531-8257},
  volume={32},
  number={10},
  note={Gesehen am 01.10.2018},
  journal={Movement disorders},
  doi={10.1002/mds.27137},
}
@article{UBHD-68575220,
  author={Marras, Connie and Lang, Anthony and Warrenburg, Bart P. van de and Sue, Carolyn M. and Tabrizi, Sarah J. and Bertram, Lars and Mercimek‐Mahmutoglu, Saadet and Ebrahimi-Fakhari, Darius and Warner, Thomas T. and Durr, Alexandra and Assmann, Birgit and Lohmann, Katja and Kostic, Vladimir and Klein, Christine},
  title={Nomenclature of genetic movement disorders},
  subtitle={recommendations of the international Parkinson and movement disorder society task force},
  year={2016},
  pages={436-457},
  language={eng},
  issn={1531-8257},
  volume={31},
  number={4},
  note={Gesehen am 11.05.2020},
  journal={Movement disorders},
  doi={10.1002/mds.26527},
}
@article{UBHD-68881351,
  author={Neuray, Caroline and Sultan, Tipu and Alvi, Javeira Raza and Franca, Marcondes C, Jr and Assmann, Birgit and Wagner, Matias and Canafoglia, Laura and Franceschetti, Silvana and Rossi, Giacomina and Santana, Isabel and Macario, Maria C and Almeida, Maria R and Kamate, Mahesh and Parikh, Sumit and Elloumi, Houda Zghal and Murphy, David and Efthymiou, Stephanie and Maroofian, Reza and Houlden, Henry},
  title={Early-onset phenotype of bi-allelic GRN mutations},
  year={2021},
  pages={1-5},
  language={eng},
  issn={1460-2156},
  volume={144},
  note={Advance access publication December 22, 2020 ; Gesehen am 22.02.2022},
  journal={Brain},
  doi={10.1093/brain/awaa414},
}
@article{UBHD-68639785,
  author={Opladen, Thomas and López-Laso, Eduardo and Cortès-Saladelafont, Elisenda and Pearson, Toni S. and Sivri, H. Serap and Yildiz, Yilmaz and Assmann, Birgit and Kurian, Manju A. and Leuzzi, Vincenzo and Heales, Simon and Pope, Simon and Porta, Francesco and García-Cazorla, Angeles and Honzík, Tomáš and Pons, Roser and Regal, Luc and Goez, Helly and Artuch, Rafael and Hoffmann, Georg F. and Horvath, Gabriella and Th{\"o}ny, Beat and Scholl-B{\"u}rgi, Sabine and Burlina, Alberto and Verbeek, Marcel M. and Mastrangelo, Mario and Friedman, Jennifer and Wassenberg, Tessa and Jeltsch, Kathrin and Kulhánek, Jan and Kuseyri H{\"u}bschmann, Oya},
  title={Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies},
  year={2020},
  pages={1-30},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 126},
  note={Im Text ist "4" tiefgestellt ; Gesehen am 23.09.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01379-8},
}
@article{UBHD-68639786,
  author={Opladen, Thomas and López-Laso, Eduardo and Cortès-Saladelafont, Elisenda and Pearson, Toni S. and Sivri, H. Serap and Yildiz, Yilmaz and Assmann, Birgit and Kurian, Manju A. and Leuzzi, Vincenzo and Heales, Simon and Pope, Simon and Porta, Francesco and García-Cazorla, Angeles and Honzík, Tomáš and Pons, Roser and Regal, Luc and Goez, Helly and Artuch, Rafael and Hoffmann, Georg F. and Horvath, Gabriella and Th{\"o}ny, Beat and Scholl-B{\"u}rgi, Sabine and Burlina, Alberto and Verbeek, Marcel M. and Mastrangelo, Mario and Friedman, Jennifer and Wassenberg, Tessa and Jeltsch, Kathrin and Kulhánek, Jan and Kuseyri H{\"u}bschmann, Oya},
  title={Correction to},
  subtitle={Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies},
  year={2020},
  pages={1-5},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 202},
  note={Gesehen am 23.09.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01464-y},
}
@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-68901311,
  author={Peters, Verena and Penzien, J. M. and Reiter, G. and K{\"o}rner, C. and Hackler, R. and Assmann, Birgit and Fang-Hoffmann, Junmin and Schaefer, J. R. and Hoffmann, Georg F. and Heidemann, P. H.},
  title={Congenital disorder of Glycosylation IId (CDG-IId) - a new entity},
  subtitle={clinical presentation with Dandy-Walker malformation and myopathy},
  year={2002},
  pages={27-32},
  language={eng},
  issn={1439-1899},
  volume={33},
  number={01},
  note={Gesehen am 30.03.2022},
  journal={Neuropediatrics},
  doi={10.1055/s-2002-23597},
}
@article{UBHD-68902208,
  author={Prietsch, Viola and Peters, Verena and Hackler, R. and Jakobi, R. and Assmann, Birgit and Fang-Hoffmann, Junmin and K{\"o}rner, Christian and Helwig-Rolig, Angelika and Schaefer, J. R. and Hoffmann, Georg F.},
  title={A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy},
  year={2002},
  pages={126-130},
  language={eng},
  issn={1573-2665},
  volume={25},
  number={2},
  note={Gesehen am 31.03.2022},
  journal={Journal of inherited metabolic disease},
  doi={10.1023/A:1015628810892},
}
@article{UBHD-69195260,
  author={Saffari, Afshin and Kellner, Melanie and Jordan, Catherine and Rosengarten, Helena and Mo, Alisa and Zhang, Bo and Strelko, Oleksandr and Neuser, Sonja Anna and Davis, Marie Y and Yoshikura, Nobuaki and Futamura, Naonobu and Takeuchi, Tomoya and Nabatame, Shin and Ishiura, Hiroyuki and Tsuji, Shoji and Aldeen, Huda Shujaa and Cali, Elisa and Rocca, Clarissa and Houlden, Henry and Efthymiou, Stephanie and Assmann, Birgit and Yoon, Grace and Trombetta, Bianca A and Kivis{\"a}kk, Pia and Eichler, Florian and Nan, Haitian and Takiyama, Yoshihisa and Tessa, Alessandra and Santorelli, Filippo M and Sahin, Mustafa and Blackstone, Craig and Yang, Edward and Sch{\"u}le-Freyer, Rebecca and Ebrahimi-Fakhari, Darius},
  title={The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia},
  subtitle={SPG15},
  year={2023},
  pages={2003-2015},
  language={eng},
  issn={1460-2156},
  volume={146},
  number={5 vom: Mai},
  note={Online verf{\"u}gbar: 31. Oktober 2022, Artikelversion: 21. Januar 2023 ; Gesehen am 26.03.2024},
  journal={Brain},
  doi={10.1093/brain/awac391},
}
@article{UBHD-68081729,
  author={Wassenberg, Tessa and Jeltsch, Kathrin and Hoffmann, Georg F. and Assmann, Birgit and Blau, Nenad and Opladen, Thomas},
  title={Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency},
  year={2017},
  language={eng},
  issn={1750-1172},
  volume={12(2017) Artikel-Nummer 12},
  number={21 Seiten},
  note={Gesehen am 08.02.2017},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-016-0522-z},
  url={http://dx.doi.org/10.1186/s13023-016-0522-z},
  library={UB},
}
@book{UBHD-68089929,
  author={Wassenberg, Tessa and Jeltsch, Kathrin and Hoffmann, Georg F. and Assmann, Birgit and Blau, Nenad and Opladen, Thomas},
  title={Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency},
  publisher={BioMed Central},
  address={London},
  year={2017},
  pages={1 Online-Ressource (21 Seiten)},
  language={eng},
  note={Wissenschaftlicher Aufsatz aus: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 12. pp. 1-21. ISSN 1750-1172},
  doi={10.1186/s13023-016-0522-z},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-225085},
  library={UB},
}
@article{UBHD-68387434,
  author={Weinzierl, Martin and Honnef, Dagmar and Assmann, Birgit},
  title={Syringomyelia in preterm children with posthemorrhagic occlusive hydrocephalus},
  year={2012},
  pages={2153-2156},
  language={eng},
  issn={1433-0350},
  volume={28},
  number={12},
  note={Gesehen am 07.05.2019},
  journal={Child's nervous system},
  doi={10.1007/s00381-012-1857-y},
}
@article{UBHD-68724054,
  author={Zech, Michael and Wolf, Marc and Assmann, Birgit and Staufner, Christian and Opladen, Thomas},
  title={Monogenic variants in dystonia},
  subtitle={an exome-wide sequencing study},
  year={2020},
  pages={908-918},
  language={eng},
  issn={1474-4465},
  volume={19},
  number={11},
  note={Gesehen am 15.04.2021},
  journal={The lancet},
  doi={10.1016/S1474-4422(20)30312-4},
}