Assmann, Birgit PD Dr. med.Universität HeidelbergHeidelberg
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Publications in heiBIB 
- Julià-Palacios, Natalia: The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency / Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Hor… , May 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 3 vom: Mai, Seite 447-462
DOI: 10.1002/jimd.12723
- Saffari, Afshin: The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia : SPG15 / Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr… , May 2023. - 13 S. : Illustrationen
In: Brain, ISSN 1460-2156. 146(2023), 5 vom: Mai, Seite 2003-2015
DOI: 10.1093/brain/awac391
- Dobritzsch, Doreen: β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity / Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Dirk Maurer, Ardeshir A. Monavari, Anders Gummesso… , 13 June 2022. - 9 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 136(2022), 3, Seite 177-185
DOI: 10.1016/j.ymgme.2022.01.102
- Opladen, Thomas: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec / Thomas Opladen, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Debora Call, Kim Green, Ulrike Schara, W… , 29 June 2021. - 10 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 169(2021), 8, Seite 738-747
DOI: 10.1007/s00112-021-01232-7
- Kuseyri Hübschmann, Oya: Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines / Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Roser Pons, … , 20 September 2021. - 13 S.
In: Nature Communications, ISSN 2041-1723. 12(2021), Artikel-ID 5529, Seite 1-13
DOI: 10.1038/s41467-021-25515-5
- Neuray, Caroline: Early-onset phenotype of bi-allelic GRN mutations / Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C. Franca Jr, Birgit Assmann, Matias Wag… , 2021. - 5 S.
In: Brain, ISSN 1460-2156. 144(2021), 2 vom: Feb., Artikel-ID e22, Seite 1-5
DOI: 10.1093/brain/awaa414
- Zech, Michael: Monogenic variants in dystonia : an exome-wide sequencing study / Michael Zech, Robert Jech, Sylvia Boesch, Matej Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao,… , 21 October 2020. - 11 S.
In: The lancet, ISSN 1474-4465. 19(2020), 11, Seite 908-918
DOI: 10.1016/S1474-4422(20)30312-4
- Brennenstuhl, Heiko: Succinic semialdehyde dehydrogenase deficiency : in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1 / Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine … , 13 November 2020. - 15 Seiten
In: International journal of molecular sciences, ISSN 1422-0067. 21(2020), 22, Artikel-ID 8578, Seite 1-15
DOI: 10.3390/ijms21228578
- Opladen, Thomas: Correction to : Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Y… , 05 August 2020. - 5 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 202, Seite 1-5
DOI: 10.1186/s13023-020-01464-y
- Opladen, Thomas: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Y… , 26 May 2020. - 30 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 126, Seite 1-30
DOI: 10.1186/s13023-020-01379-8
- Brennenstuhl, Heiko: Inherited disorders of neurotransmitters : classification and practical approaches for diagnosis and treatment / Heiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, Thomas Opladen, 2019. - 13 S.
In: Neuropediatrics, ISSN 1439-1899. 50(2019), 1, Seite 2-14
DOI: 10.1055/s-0038-1673630
- Evers, Christina: Diagnosis of CoPAN by whole exome sequencing : waking up a sleeping tiger's eye / Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer… . - 9 S.
In: American journal of medical genetics, ISSN 1552-4833. 173(2017), 7, S. 1878-1886
DOI: 10.1002/ajmg.a.38252
- Lange, Lara: A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia / Lara M. Lange, Sinem Tunc, MD, Stephanie Tennstedt, PhD, Alexander Münchau, MD, Christine Klein, MD,… . - 3 S.
In: Movement disorders, ISSN 1531-8257. 32(2017), 10, S. 1495-1497
DOI: 10.1002/mds.27137
- Wassenberg, Tessa: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency / Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau,… . -
London: BioMed Central, 18 January 2017. - 1 Online-Ressource (21 Seiten) : Diagramme
DOI: 10.1186/s13023-016-0522-z
- Wassenberg, Tessa: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency / Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau,… , 18 January 2017
In: Orphanet journal of rare diseases, ISSN 1750-1172. 12(2017) Artikel-Nummer 12, 21 Seiten
DOI: 10.1186/s13023-016-0522-z
- Klein, Christine: Reply letter to Jinnah “Locus pocus” and Albanese “Complex dystonia is not a category in the new 2013 consensus classification” : Necessary evolution, no magic! / Christine Klein, Anthony Lang, Bart P. van de Warrenburg, Carolyn M. Sue, Sarah J. Tabrizi, Lars Ber… , 13 September 2016. - 3 S.
In: Movement disorders, ISSN 1531-8257. 31(2016), 11, Seite 1760-1762
DOI: 10.1002/mds.26763
- Marras, Connie: Nomenclature of genetic movement disorders : recommendations of the international Parkinson and movement disorder society task force / Connie Marras, MD, PhD, Anthony Lang, MD, Bart P. van de Warrenburg, MD, PhD, Carolyn M. Sue, MBBS, … , 15 April 2016. - 22 S.
In: Movement disorders, ISSN 1531-8257. 31(2016), 4, Seite 436-457
DOI: 10.1002/mds.26527
- Boy, Nikolas: Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I : second revision / Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjor… , 2017. - 27 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 40(2017), 1, Seite 75-101
DOI: 10.1007/s10545-016-9999-9
- Colin, Estelle: Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy / Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati… , 18 August 2016. - 9 S.
In: The American journal of human genetics, ISSN 1537-6605. 99(2016), 3, Seite 695-703
DOI: 10.1016/j.ajhg.2016.06.030
- Ebrahimi-Fakhari, Darius: Child neurology : PRRT2-associated movement disorders and differential diagnoses / Darius Ebrahimi-Fakhari, Keun-Sun Kang, Urania Kotzaeridou, Juergen Kohlhase, Christine Klein, Birgi… , October 27, 2014. - 4 S.
In: Neurology, ISSN 1526-632X. 83(2014), 18, Seite 1680-1683
DOI: 10.1212/WNL.0000000000000936
- Assmann, Birgit: Defekte des Purin- und des Pyrimidinstoffwechsels / B. Assmann, J. Bierau, 2014. - 3 S.
In: Pädiatrie. (2014), Seite 577-579
DOI: 10.1007/978-3-642-41866-2_59
- Ebrahimi-Fakhari, Darius: Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features : clinical observations / Darius Ebrahimi-Fakhari, Bianca Maas, Christian Haneke, Tim Niehues, Katrin Hinderhofer, Birgit E. A… . - 4 S.
In: Pediatric neurology, ISSN 1873-5150. 52(2015), 1, S. 115-118
DOI: 10.1016/j.pediatrneurol.2014.08.021
- Weinzierl, Martin: Syringomyelia in preterm children with posthemorrhagic occlusive hydrocephalus / Martin Weinzierl, Dagmar Honnef, Birgit Assmann, Marc Schoberer, Ute Deutz, Martin Häusler, 01 August 2012. - 4 S.
In: Child's nervous system, ISSN 1433-0350. 28(2012), 12, Seite 2153-2156
DOI: 10.1007/s00381-012-1857-y
- Boy, Nikolas: Low lysine diet in glutaric aciduria type I - effect on anthropometric and biochemical follow-up parameters / Nikolas Boy, Gisela Haege, Jana Heringer, Birgit Assmann, Chris Mühlhausen, Regina Ensenauer, Esther… , 2013. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 36(2013), 3, Seite 525-533
DOI: 10.1007/s10545-012-9517-7
- Prietsch, Viola: A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy / V. Prietsch, V. Peters, R. Hackler, R. Jakobi, B. Assmann, J. Fang, C. Körner, A. Helwig-Rolig, J.R.… , 01 May 2002. - 5 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 25(2002), 2, Seite 126-130
DOI: 10.1023/A:1015628810892
- Assmann, Birgit: Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia / Birgit Assmann, Martin Köhler, Georg F. Hoffmann, Simon Heales, Robert Surtees, 2002. - 4 S.
In: Pediatric research, ISSN 1530-0447. 52(2002), 1, Seite 91-94
DOI: 10.1203/00006450-200207000-00017
- Peters, Verena: Congenital disorder of Glycosylation IId (CDG-IId) - a new entity : clinical presentation with Dandy-Walker malformation and myopathy / V. Peters, J.M. Penzien, G. Reiter, C. Körner, R. Hackler, B. Assmann, J. Fang, J.R. Schaefer, G.F. … , 03. April 2002. - 6 S.
In: Neuropediatrics, ISSN 1439-1899. 33(2002), 01, Seite 27-32
DOI: 10.1055/s-2002-23597
- Assmann, Birgit: A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations / B. Assmann, R. Hackler, V. Peters, J.R. Schaefer, T. Arndt, E. Mayatepek, J. Jaeken, G.F. Hoffmann, 2001. - 6 S.
In: Neuropediatrics, ISSN 1439-1899. 32(2001), 06, Seite 313-318
DOI: 10.1055/s-2001-20407
