Marcus Deschauer
Overview
Explore the profile of Marcus Deschauer including associated specialties, affiliations and a list of published articles.
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Articles
118
Citations
1601
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Recent Articles
1.
Cordts I, Fuetterer C, Wachinger A, von Heynitz R, Kessler T, Freigang M, et al.
Neurology
. 2025 Feb;
104(5):e213371.
PMID: 39946662
Background And Objectives: The availability of disease-modifying therapies for 5q-associated spinal muscular atrophy (SMA) has heightened the need to identify suitable biomarkers. This study investigates neurofilament light chain (NfL) concentrations...
2.
Cortese A, Dohrn M, Curro R, Negri S, Lassuthova P, Pisciotta C, et al.
Brain
. 2025 Feb;
PMID: 39938083
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease...
3.
Koch J, Leha A, Bidner H, Cordts I, Dorst J, GuNTHER R, et al.
Lancet Neurol
. 2024 Oct;
23(11):1133-1146.
PMID: 39424560
Background: Fasudil is a small molecule inhibitor of Rho-associated kinase (ROCK) and is approved for the treatment of subarachnoid haemorrhage. In preclinical studies, fasudil has been shown to attenuate neurodegeneration,...
4.
Mandler J, Hartl J, Cordts I, Sturm M, Hedderich D, Bafligil C, et al.
Mult Scler J Exp Transl Clin
. 2024 Jul;
10(3):20552173241263491.
PMID: 39072298
Background: Multiple sclerosis (MS) shares clinical/radiological features with several monogenic diseases that can mimic MS. Objective: We aimed to determine if exome sequencing can identify monogenic diseases in patients diagnosed...
5.
Caldi Gomes L, Hanzelmann S, Hausmann F, Khatri R, Oller S, Parvaz M, et al.
Nat Commun
. 2024 Jun;
15(1):4893.
PMID: 38849340
Amyotrophic lateral sclerosis (ALS) is a debilitating motor neuron disease and lacks effective disease-modifying treatments. This study utilizes a comprehensive multiomic approach to investigate the early and sex-specific molecular mechanisms...
6.
Zeng R, Schlaeger S, Turk M, Baum T, Deschauer M, Janka R, et al.
Nervenarzt
. 2024 Apr;
95(8):721-729.
PMID: 38683354
Background: Magnetic resonance (MRI) imaging of the skeletal muscles (muscle MRI for short) is increasingly being used in clinical routine for diagnosis and longitudinal assessment of muscle disorders. However, cross-centre...
7.
Athamneh M, Daya N, Hentschel A, Gangfuss A, Ruck T, Marina A, et al.
J Cell Mol Med
. 2024 Apr;
28(8):e18122.
PMID: 38652110
Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or...
8.
Zeng R, Schlaeger S, Turk M, Baum T, Deschauer M, Janka R, et al.
Radiologie (Heidelb)
. 2024 Apr;
64(8):653-662.
PMID: 38639916
Background: Magnetic resonance (MRI) imaging of the skeletal muscles (muscle MRI for short) is increasingly being used in clinical routine for diagnosis and longitudinal assessment of muscle disorders. However, cross-centre...
9.
Vincent A, Chen C, Gomes T, Di Leo V, Laalo T, Pabis K, et al.
Biochim Biophys Acta Mol Basis Dis
. 2024 Mar;
1870(5):167131.
PMID: 38521420
Mitochondrial DNA (mtDNA) deletions which clonally expand in skeletal muscle of patients with mtDNA maintenance disorders, impair mitochondrial oxidative phosphorylation dysfunction. Previously we have shown that these mtDNA deletions arise...
10.
Vill K, Tacke M, Konig A, Baumann M, Baumgartner M, Steinbach M, et al.
J Neurol
. 2024 Feb;
271(5):2787-2797.
PMID: 38409538
Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is...