Matthias Eckenweiler
Overview
Explore the profile of Matthias Eckenweiler including associated specialties, affiliations and a list of published articles.
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Articles
27
Citations
223
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Recent Articles
1.
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...
2.
Kauth F, Bertolini A, Wendel E, Koukou G, Naggar I, Chung J, et al.
Eur J Paediatr Neurol
. 2025 Jan;
54:113-120.
PMID: 39879856
Background: Early onset pediatric multiple sclerosis (EOPMS) provides an early window of opportunity to understand the mechanisms leading to MS. Objective: To investigate clinical, laboratory and imaging differences between children...
3.
Rodrigues A, Eckenweiler M, Hufnagel M, Spielberger B
Klin Padiatr
. 2024 Aug;
PMID: 39106879
No abstract available.
4.
Syeda S, Lone M, Mohassel P, Donkervoort S, Munot P, Franca Jr M, et al.
J Neurol Neurosurg Psychiatry
. 2023 Dec;
95(2):103-113.
PMID: 38041679
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motor neurons with varying ages of onset, progression and pathomechanisms. Monogenic childhood-onset ALS, although rare, forms...
5.
Raynor A, Bruneel A, Vermeersch P, Cholet S, Friedrich S, Eckenweiler M, et al.
Proteomics Clin Appl
. 2023 Oct;
18(2):e2300040.
PMID: 37876147
Purpose: Congenital disorders of glycosylation (CDG) are one of the fastest growing groups of inborn errors of metabolism. Despite the availability of next-generation sequencing techniques and advanced methods for evaluation...
6.
Toutouna L, Beck-Woedl S, Feige U, Glaeser B, Komlosi K, Eckenweiler M, et al.
Am J Med Genet A
. 2023 Jul;
191(10):2656-2663.
PMID: 37466007
Biallelic pathogenic variants in LAMB1 have been associated with autosomal recessive lissencephaly 5 (OMIM 615191), which is characterized by brain malformations (cobblestone lissencephaly, hydrocephalus), developmental delay, and epilepsy. Pathogenic variants...
7.
Koy A, Kuhn A, Schiller P, Huebl J, Schneider G, Eckenweiler M, et al.
Mov Disord
. 2023 Jun;
38(9):1736-1742.
PMID: 37358761
Background: Deep brain stimulation (DBS) has been increasingly used in the management of dyskinetic cerebral palsy (DCP). Data on long-term effects and the safety profile are rare. Objectives: We assessed...
8.
Glonnegger H, Glatthaar N, Eckenweiler M, Barth M, Uhl M, Buchsel M, et al.
Hamostaseologie
. 2022 Nov;
43(3):188-195.
PMID: 36356579
Introduction: Cerebral sinus venous thrombosis (CSVT) is a rare disease, especially in children. Therefore, thrombophilia markers, risk factors, treatment strategy, and MRI, as well as clinical outcome need further investigation...
9.
Wendel E, Thonke H, Bertolini A, Baumann M, Blaschek A, Merkenschlager A, et al.
Neurol Neuroimmunol Neuroinflamm
. 2022 Oct;
9(6).
PMID: 36229191
Background And Objective: The spectrum of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disorder (MOGAD) comprises monophasic diseases such as acute disseminated encephalomyelitis (ADEM), optic neuritis (ON), and transverse myelitis and relapsing...
10.
Delle Vedove A, Natarajan J, Zanni G, Eckenweiler M, Muinos-Buhl A, Storbeck M, et al.
Cell Mol Life Sci
. 2022 Sep;
79(10):526.
PMID: 36136249
CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the transport and translation of mRNAs of genes involved in synaptic plasticity. Here we describe two unrelated...