Detalhe da pesquisa
1.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37185710
2.
First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis.
Am J Med Genet A
; 191(7): 1948-1952, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37045799
3.
Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology.
Int J Mol Sci
; 24(13)2023 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37446383
4.
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
Int J Mol Sci
; 22(23)2021 Nov 28.
Artigo
Inglês
| MEDLINE | ID: mdl-34884674
5.
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
Int J Mol Sci
; 22(11)2021 May 24.
Artigo
Inglês
| MEDLINE | ID: mdl-34073924
6.
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann-Pick C disease.
Neurogenetics
; 21(2): 105-119, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31927669
7.
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience.
Mol Genet Metab
; 130(3): 170-171, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32386848
8.
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
J Inherit Metab Dis
; 43(3): 574-585, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31707734
9.
CRISPR/Cas9 Editing for Gaucher Disease Modelling.
Int J Mol Sci
; 21(9)2020 May 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32380730
10.
Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.
Hum Mutat
; 40(11): 2121-2130, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31301153
11.
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.
Hum Mol Genet
; 26(12): 2277-2289, 2017 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28379564
12.
microRNAs as biomarkers in Pompe disease.
Genet Med
; 21(3): 591-600, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29997386
13.
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
J Inherit Metab Dis
; 41(2): 209-219, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29143201
14.
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Mol Ther
; 25(9): 2117-2128, 2017 09 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28629821
15.
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
Hum Mutat
; 38(7): 849-862, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28477385
16.
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.
Annu Rev Genomics Hum Genet
; 15: 173-94, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25184529
17.
Cerebrospinal fluid ß-glucocerebrosidase activity is reduced in parkinson's disease patients.
Mov Disord
; 32(10): 1423-1431, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28843015
18.
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Hum Mutat
; 37(2): 139-47, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26499107
19.
Role of LIMP-2 in the intracellular trafficking of ß-glucosidase in different human cellular models.
FASEB J
; 29(9): 3839-52, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26018676
20.
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
Nucleic Acids Res
; 42(2): 1291-302, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24150945