Felix Distelmaier
Overview
Explore the profile of Felix Distelmaier including associated specialties, affiliations and a list of published articles.
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Articles
129
Citations
2623
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Recent Articles
1.
Oeztuerk M, Herebian D, Dipali K, Hentschel A, Rademacher N, Kraft F, et al.
Front Mol Neurosci
. 2025 Mar;
18:1548255.
PMID: 40051915
Mitochondrial integrity is fundamental to cellular function, upheld by a network of proteases that regulate proteostasis and mitochondrial dynamics. Among these proteases, AFG3L2 is critical due to its roles 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.
Deneubourg C, Dafsari H, Lowe S, Martinez-Cotrina A, Mazaud D, Park S, et al.
Autophagy
. 2024 Sep;
21(2):447-459.
PMID: 39342484
Epilepsy is a common neurological condition that arises from dysfunctional neuronal circuit control due to either acquired or innate disorders. Autophagy is an essential neuronal housekeeping mechanism, which causes severe...
4.
Jaeger B, Langeveld M, Brunkhorst R, Distelmaier F, Pop A, Wolf N, et al.
JIMD Rep
. 2024 Jul;
65(4):233-238.
PMID: 38974615
Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later...
5.
Distelmaier F, Sezer A, Helm C, Waldmuller S, Seibt A, Gangfuss A, et al.
Brain
. 2024 Apr;
147(7):e45-e49.
PMID: 38637313
No abstract available.
6.
Dobner J, Nguyen T, Pavez-Giani M, Cyganek L, Distelmaier F, Krutmann J, et al.
Mol Ther Methods Clin Dev
. 2024 Apr;
32(2):101231.
PMID: 38572068
Mitochondrial DNA (mtDNA) analysis is crucial for the diagnosis of mitochondrial disorders, forensic investigations, and basic research. Existing pipelines are complex, expensive, and require specialized personnel. In many cases, including...
7.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Laugwitz L, Cheng F, Collins S, Hustinx A, Navarro N, Welsch S, et al.
Brain
. 2024 Feb;
147(7):2471-2482.
PMID: 38386308
Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in...
8.
Hammann N, Lenz D, Baric I, Crushell E, Vici C, Distelmaier F, et al.
Mol Genet Metab
. 2024 Jan;
141(3):108118.
PMID: 38244286
Biallelic pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause a pleiotropic multisystem disorder. Three clinical subgroups have been defined correlating with the localisation of pathogenic variants in the NBAS gene: variants...
9.
Lenz D, Schlieben L, Shimura M, Bianzano A, Smirnov D, Kopajtich R, et al.
Hepatology
. 2023 Nov;
79(5):1075-1087.
PMID: 37976411
Background And Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%-16%) and inherited metabolic diseases (14%-28%). Yet, in up to...
10.
Averdunk L, Thimm E, Klee D, Haack T, Distelmaier F
J Inherit Metab Dis
. 2023 Sep;
46(6):1206-1208.
PMID: 37718464
Classical homocystinuria is caused by pathogenic variants in the CBS gene leading to a deficiency of the vitamin B6-dependent enzyme cystathionine beta synthase. The disease is typically associated with high...