Pavan E - Search Results

1

Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology.

Ormazabal ME, Pavan E, Vaena E, Ferino D, Biasizzo J, Mucci JM, Serra F, Cifù A, Scarpa M, Rozenfeld PA, Dardis AE. Ormazabal ME, et al. Among authors: pavan e. Int J Mol Sci. 2023 Jul 7;24(13):11204. doi: 10.3390/ijms241311204. Int J Mol Sci. 2023. PMID: 37446383 Free PMC article.

2

Molecular genetics of Pompe disease: a comprehensive overview.

Peruzzo P, Pavan E, Dardis A. Peruzzo P, et al. Among authors: pavan e. Ann Transl Med. 2019 Jul;7(13):278. doi: 10.21037/atm.2019.04.13. Ann Transl Med. 2019. PMID: 31392190 Free PMC article. Review.

3

CRISPR/Cas9 Editing for Gaucher Disease Modelling.

Pavan E, Ormazabal M, Peruzzo P, Vaena E, Rozenfeld P, Dardis A. Pavan E, et al. Int J Mol Sci. 2020 May 5;21(9):3268. doi: 10.3390/ijms21093268. Int J Mol Sci. 2020. PMID: 32380730 Free PMC article.

4

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.

Ciana G, Dardis A, Pavan E, Da Riol RM, Biasizzo J, Ferino D, Zanatta M, Boni A, Antonini L, Crichiutti G, Bembi B. Ciana G, et al. Among authors: pavan e. Mol Genet Metab Rep. 2020 Nov 21;25:100678. doi: 10.1016/j.ymgmr.2020.100678. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33294373 Free PMC article.

5

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.

Zampieri S, Cattarossi S, Pavan E, Barbato A, Fiumara A, Peruzzo P, Scarpa M, Ciana G, Dardis A. Zampieri S, et al. Among authors: pavan e. Int J Mol Sci. 2021 May 24;22(11):5538. doi: 10.3390/ijms22115538. Int J Mol Sci. 2021. PMID: 34073924 Free PMC article.

6

Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD).

Dardis A, Pavan E, Fabris M, Da Riol RM, Sechi A, Fiumara A, Santoro L, Ormazabal M, Milanic R, Zampieri S, Biasizzo J, Scarpa M. Dardis A, et al. Among authors: pavan e. J Clin Med. 2021 Oct 19;10(20):4796. doi: 10.3390/jcm10204796. J Clin Med. 2021. PMID: 34682919 Free PMC article.

7

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.

Dardis A, Michelakakis H, Rozenfeld P, Fumic K, Wagner J, Pavan E, Fuller M, Revel-Vilk S, Hughes D, Cox T, Aerts J; International Working Group of Gaucher Disease (IWGGD). Dardis A, et al. Among authors: pavan e. Orphanet J Rare Dis. 2022 Dec 21;17(1):442. doi: 10.1186/s13023-022-02573-6. Orphanet J Rare Dis. 2022. PMID: 36544230 Free PMC article.

8

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.

Pavan E, Peruzzo P, Cattarossi S, Bergamin N, Bordugo A, Sechi A, Scarpa M, Biasizzo J, Colucci F, Dardis A. Pavan E, et al. Int J Mol Sci. 2024 Jun 16;25(12):6615. doi: 10.3390/ijms25126615. Int J Mol Sci. 2024. PMID: 38928321 Free PMC article.

9

Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure.

Colucci F, Dardis A, Pavan E, Scarpa M, Gozzi A, Antenucci P, Farnè M, Neri M, Ferlini A, Tugnoli V, Sechi A, Sensi M. Colucci F, et al. Among authors: pavan e. Mov Disord Clin Pract. 2024 Nov 8. doi: 10.1002/mdc3.14273. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 39512127 No abstract available.

10

Effect of Post-Weaning Concentrate Feeding Prior to Forage Finishing on Intramuscular Fat Deposition.

Duckett SK, Pavan E. Duckett SK, et al. Among authors: pavan e. Animals (Basel). 2024 Feb 2;14(3):496. doi: 10.3390/ani14030496. Animals (Basel). 2024. PMID: 38338139 Free PMC article.

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