Friederike Wilbert
Overview
Explore the profile of Friederike Wilbert including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
110
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0
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Recent Articles
1.
Zech M, Kopajtich R, Steinbrucker K, Bris C, Gueguen N, Feichtinger R, et al.
Ann Neurol
. 2021 Dec;
91(2):225-237.
PMID: 34954817
Objective: ATP synthase (ATPase) is responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. We aimed at expanding the spectrum...
2.
Neilson D, Zech M, Hufnagel R, Slone J, Wang X, Homan S, et al.
Mov Disord
. 2021 Oct;
37(2):375-383.
PMID: 34636445
Background: In a large pedigree with an unusual phenotype of spastic paraplegia or dystonia and autosomal dominant inheritance, linkage analysis previously mapped the disease to chromosome 2q24-2q31. Objective: The aim...
3.
Zech M, Jech R, Boesch S, Skorvanek M, Necpal J, Svantnerova J, et al.
Mov Disord
. 2021 May;
36(8):1959-1964.
PMID: 33949708
Background: Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. Objectives: We sought to validate a recently introduced scoring algorithm...
4.
Wilbert F, Grunert S, Heinzmann A, Bode S
BMC Pediatr
. 2021 Apr;
21(1):174.
PMID: 33853553
Background: Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hypoglycemia...
5.
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...
6.
Brinckmann A, Weiss C, Wilbert F, von Moers A, Zwirner A, Stoltenburg-Didinger G, et al.
PLoS One
. 2010 Oct;
5(10):e13513.
PMID: 20976001
Human patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G). In MERRF-syndrome brain and skeletal muscles are predominantly...