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Year | Number of Results |
---|---|
2021 | 4 |
2022 | 2 |
2023 | 1 |
2024 | 1 |
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Page 1
Molecular pathophysiology of human MICU1 deficiency.
Neuropathol Appl Neurobiol. 2021 Oct;47(6):840-855. doi: 10.1111/nan.12694. Epub 2021 Feb 22.
Neuropathol Appl Neurobiol. 2021.
PMID: 33428302
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
Kölbel H, Kraft F, Hentschel A, Czech A, Gangfuss A, Mohassel P, Nguyen C, Stenzel W, Schara-Schmidt U, Preuße C, Roos A.
Kölbel H, et al. Among authors: czech a.
Genes (Basel). 2022 May 17;13(5):893. doi: 10.3390/genes13050893.
Genes (Basel). 2022.
PMID: 35627278
Free PMC article.
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Molecular mechanisms in chloroquine-exposed muscle cells elucidated by combined proteomic and microscopic studies.
Phan V, Hathazi D, Preuße C, Czech A, Freier E, Shema G, Zahedi RP, Roos A.
Phan V, et al. Among authors: czech a.
Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12877. doi: 10.1111/nan.12877.
Neuropathol Appl Neurobiol. 2023.
PMID: 36633103
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Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
Della Marina A, Hentschel A, Czech A, Schara-Schmidt U, Preusse C, Laner A, Abicht A, Ruck T, Weis J, Choueiri C, Lochmüller H, Kölbel H, Roos A.
Della Marina A, et al. Among authors: czech a.
J Neuromuscul Dis. 2024;11(3):625-645. doi: 10.3233/JND-230230.
J Neuromuscul Dis. 2024.
PMID: 38578900
Review.
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Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Della Marina A, Arlt A, Schara-Schmidt U, Depienne C, Gangfuß A, Kölbel H, Sickmann A, Freier E, Kohlschmidt N, Hentschel A, Weis J, Czech A, Grüneboom A, Roos A.
Della Marina A, et al. Among authors: czech a.
Cells. 2021 Dec 9;10(12):3481. doi: 10.3390/cells10123481.
Cells. 2021.
PMID: 34943989
Free PMC article.
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Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A.
Gangfuß A, et al. Among authors: czech a.
J Pathol. 2022 Jan;256(1):93-107. doi: 10.1002/path.5812. Epub 2021 Nov 18.
J Pathol. 2022.
PMID: 34599609
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Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.
Hentschel A, Czech A, Münchberg U, Freier E, Schara-Schmidt U, Sickmann A, Reimann J, Roos A.
Hentschel A, et al. Among authors: czech a.
Orphanet J Rare Dis. 2021 Feb 9;16(1):73. doi: 10.1186/s13023-020-01669-1.
Orphanet J Rare Dis. 2021.
PMID: 33563298
Free PMC article.
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