Birgit Assmann
Overview
Explore the profile of Birgit Assmann including associated specialties, affiliations and a list of published articles.
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40
Citations
875
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Recent Articles
1.
Zhu G, Didry-Barca B, Seabra L, Rice G, Uggenti C, Touimy M, et al.
Lancet Neurol
. 2025 Feb;
24(3):218-229.
PMID: 39986310
Background: Through the agnostic screening of patients with uncharacterised disease phenotypes for an upregulation of type I interferon (IFN) signalling, we identified a cohort of individuals heterozygous for mutations in...
2.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, et al.
Brain
. 2025 Feb;
PMID: 39937650
Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not...
3.
Julia-Palacios N, Hubschmann O, Olivella M, Pons R, Horvath G, Lucke T, et al.
J Inherit Metab Dis
. 2024 Mar;
47(3):447-462.
PMID: 38499966
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data...
4.
Thiel M, Bamborschke D, Janzarik W, Assmann B, Zittel S, Patzer S, et al.
J Neurol Neurosurg Psychiatry
. 2023 May;
94(10):806-815.
PMID: 37225406
Background: Patients carrying pathogenic variants in often present with early-onset central hypotonia and global developmental delay, with or without epilepsy. As the disorder progresses, a complex hypertonic and hyperkinetic movement...
5.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, et al.
Brain
. 2022 Oct;
146(5):2003-2015.
PMID: 36315648
In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to understand genetic and phenotypic heterogeneity and to support interventional...
6.
Dobritzsch D, Meijer J, Meinsma R, Maurer D, Monavari A, Gummesson A, et al.
Mol Genet Metab
. 2022 Feb;
136(3):177-185.
PMID: 35151535
β-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and catalyses the conversion of N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid to β-alanine and β-aminoisobutyric acid, ammonia and CO. To date, only...
7.
Neuray C, Sultan T, Alvi J, Franca M, Assmann B, Wagner M, et al.
Brain
. 2020 Dec;
144(2):e22.
PMID: 33351065
No abstract available.
8.
Brennenstuhl H, Didiasova M, Assmann B, Bertoldi M, Molla G, Jung-Klawitter S, et al.
Int J Mol Sci
. 2020 Nov;
21(22).
PMID: 33203024
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare, monogenic disorder affecting the degradation of the main inhibitory neurotransmitter γ-amino butyric acid (GABA). Pathogenic variants in the gene that cause an...
9.
Zech M, Jech R, Boesch S, Skorvanek M, Weber S, Wagner M, et al.
Lancet Neurol
. 2020 Oct;
19(11):908-918.
PMID: 33098801
Background: Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes...
10.
Opladen T, Lopez-Laso E, Cortes-Saladelafont E, Pearson T, Sivri H, Yildiz Y, et al.
Orphanet J Rare Dis
. 2020 Aug;
15(1):202.
PMID: 32758270
An amendment to this paper has been published and can be accessed via the original article.