Suchergebnisse - "Morrone, Amelia"

PubPharm (188)

1

Prevalence of Fabry disease and GLA variants in young patients with acute stroke : The challenge to widen the screening. The Fabry-Stroke Italian Registry

enthalten in: Journal of the neurological sciences | 2024

von Romani, I. | Sarti, C. | Nencini, P. | +62

2

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction

enthalten in: Molecules (Basel, Switzerland) | 2024

von Ceni, C. | Clemente, F. | Mangiavacchi, F. | +8

3

pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 Gene

enthalten in: Chembiochem : a European journal of chemical biology | 2024

von Davighi, M. | Matassini, C. | Clemente, F. | +5

4

pH‐Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher‐Related L444P/L444P Mutations in GBA1 Gene

enthalten in: ChemBioChem | 2024

von Davighi, M. | Matassini, C. | Clemente, F. | +5

5

Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector

enthalten in: Stem cell research | 2023

von Tonin, R. | Feo, F. | Falliano, S. | +10

6

Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS)

enthalten in: Organic & biomolecular chemistry | 2023

von Buco, F. | Matassini, C. | Vanni, C. | +11

7

Light-Triggered Control of Glucocerebrosidase Inhibitors : Towards Photoswitchable Pharmacological Chaperones

enthalten in: Chemistry (Weinheim an der Bergstrasse, Germany) | 2023

von Clemente, F. | Davighi, M. | Matassini, C. | +7

8

Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation

enthalten in: European journal of medical genetics | 2023

von Fiumara, A. | Sapuppo, A. | Ferri, L. | +6

9

Light‐Triggered Control of Glucocerebrosidase Inhibitors : Towards Photoswitchable Pharmacological Chaperones

enthalten in: Chemistry – A European Journal | 2023

von Clemente, F. | Davighi, M. | Matassini, C. | +7

10

Amphiphilic Iminosugar Pharmacological Chaperones towards β‐Glucocerebrosidase : Self‐Assembly and Biological Activity

enthalten in: European Journal of Organic Chemistry | 2023

von Vanni, C. | Cardona, F. | Clemente, F. | +5

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