Artur Czech
Overview
Explore the profile of Artur Czech including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
42
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0
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Recent Articles
1.
Marina A, Hentschel A, Czech A, Schara-Schmidt U, Preusse C, Laner A, et al.
J Neuromuscul Dis
. 2024 Apr;
11(3):625-645.
PMID: 38578900
Background: NEFL encodes for the neurofilament light chain protein. Pathogenic variants in NEFL cause demyelinating, axonal and intermediate forms of Charcot-Marie-Tooth disease (CMT) which present with a varying degree of...
2.
Phan V, Hathazi D, Preusse C, Czech A, Freier E, Shema G, et al.
Neuropathol Appl Neurobiol
. 2023 Jan;
49(1):e12877.
PMID: 36633103
Objectives: Chloroquine (CQ) is an antimalarial drug with a growing number of applications as recently demonstrated in attempts to treat Covid-19. For decades, it has been well known that skeletal...
3.
Kolbel H, Kraft F, Hentschel A, Czech A, Gangfuss A, Mohassel P, et al.
Genes (Basel)
. 2022 May;
13(5).
PMID: 35627278
() encodes a serine palmitoyltransferase (SPT) resident in the endoplasmic reticulum (ER). Pathological variants cause a form of hereditary sensory and autonomic neuropathy (HSAN1A), and have recently been linked to...
4.
Marina A, Arlt A, Schara-Schmidt U, Depienne C, Gangfuss A, Kolbel H, et al.
Cells
. 2021 Dec;
10(12).
PMID: 34943989
Background: Presynaptic forms of congenital myasthenic syndromes (CMS) due to pathogenic variants in impairing the synthesis and recycling of acetylcholine (ACh) have recently been described. encodes the vesicular ACh transporter...
5.
Gangfuss A, Czech A, Hentschel A, Munchberg U, Horvath R, Topf A, et al.
J Pathol
. 2021 Oct;
256(1):93-107.
PMID: 34599609
Recessive variants in WASHC4 are linked to intellectual disability complicated by poor language skills, short stature, and dysmorphic features. The protein encoded by WASHC4 is part of the Wiskott-Aldrich syndrome...
6.
Hentschel A, Czech A, Munchberg U, Freier E, Schara-Schmidt U, Sickmann A, et al.
Orphanet J Rare Dis
. 2021 Feb;
16(1):73.
PMID: 33563298
Background: The elucidation of pathomechanisms leading to the manifestation of rare (genetically caused) neurological diseases including neuromuscular diseases (NMD) represents an important step toward the understanding of the genesis of...
7.
Kohlschmidt N, Elbracht M, Czech A, Hausler M, Phan V, Topf A, et al.
Neuropathol Appl Neurobiol
. 2021 Jan;
47(6):840-855.
PMID: 33428302
Aims: MICU1 encodes the gatekeeper of the mitochondrial Ca uniporter, MICU1 and biallelic loss-of-function mutations cause a complex, neuromuscular disorder in children. Although the role of the protein is well...