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Year | Number of Results |
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2020 | 2 |
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Page 1
Molecular genetics of Pompe disease: a comprehensive overview.
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.
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.
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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.
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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.
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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.
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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.
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