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PubPharm (102)
1
Eye-tracking in Mixed Reality for Diagnosis of Neurodegenerative Diseases
enthalten in:
arXiv.org
| 2024
von
Daniol, M.
|
Hemmerling, D.
|
Sikora, J.
| +3
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2
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
enthalten in:
Kidney international
| 2024
von
Kmochová, T.
|
Kidd, K.
|
Orr, A.
| +44
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3
What do we know about eligible organ donors? Analysis of data from a local Registry
enthalten in:
Advances in clinical and experimental medicine : official organ Wroclaw Medical University
| 2024
von
Kisiołek, M.
|
Blada, B.
|
Hyla, J.
| +4
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4
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells
enthalten in:
Virchows Archiv : an international journal of pathology
| 2024
von
Murgasova, L.
|
Hulkova, H.
|
Baresova, V.
| +5
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5
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
enthalten in:
bioRxiv.org
| 2023
von
Živná, M.
|
Dostálová, G.
|
Barešová, V.
| +26
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6
Effect of the Application of Sunflower Biochar and Leafy Trees Biochar on Soil Hydrological Properties of Fallow Soils and under Soybean Cultivation
enthalten in:
Materials (Basel, Switzerland)
| 2023
von
Sadowska, U.
|
Zaleski, T.
|
Kuboń, M.
| +6
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7
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency
enthalten in:
Journal of inherited metabolic disease
| 2022
von
Rybova, J.
|
Kuchar, L.
|
Sikora, J.
| +2
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8
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
enthalten in:
ResearchSquare.com
| 2022
von
Musalkova, D.
|
Majer, F.
|
Kuchar, L.
| +14
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9
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
enthalten in:
ResearchSquare.com
| 2022
von
Musalkova, D.
|
Majer, F.
|
Kuchar, L.
| +14
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10
Pitfalls of X-chromosome inactivation testing in females with Fabry disease
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Řeboun, M.
|
Sikora, J.
|
Magner, M.
| +9
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Journal of inherited metabolic disease
4
Acta neuropathologica
4
American journal of human genetics
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Materials (Basel, Switzerland)
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Molecular and cellular biochemistry
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Molecular genetics and metabolism
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American Journal of Medical Genetics Part C: Se...
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American journal of medical genetics. Part A
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Orphanet journal of rare diseases
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5
LAMP2 protein, human
5
Lysosomal-Associated Membrane Protein 2
4
Acid Ceramidase
4
Danon disease
4
EC 3.5.1.23
4
Intracellular Signaling Peptides and Proteins
4
Lysosomal storage disease
3
570
3
Asah1 protein, mouse
3
Biology
3
Cardiac Magnetic Resonance
3
Ceramides
3
Cholesterol transport
3
Clearance of storage lysosomes
3
Cortical neuronal survival crisis
3
Cross-correlation function
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