Search details
1.
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
Int J Mol Sci
; 25(4)2024 Feb 08.
Article
in English
| MEDLINE | ID: mdl-38396760
2.
Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1.
Int J Mol Sci
; 24(7)2023 Mar 31.
Article
in English
| MEDLINE | ID: mdl-37047537
3.
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Br J Haematol
; 187(4): 502-508, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31309545
4.
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Haematologica
; 103(3): 417-426, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29269525
5.
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.
Article
in English
| MEDLINE | ID: mdl-28477385
6.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica
; 107(3): 750-754, 2022 03 01.
Article
in English
| MEDLINE | ID: mdl-34788986
7.
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
Mol Genet Metab
; 119(4): 329-337, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27802905
8.
Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).
Am J Hematol
; 91(7): 666-71, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27013026
9.
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Clin Genet
; 85(3): 267-72, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-23711321
10.
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
Haematologica
; 99(6): 1022-31, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24584348
11.
Immunological profile of Fanconi anemia: a multicentric retrospective analysis of 61 patients.
Am J Hematol
; 88(6): 472-6, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23483621
12.
Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia.
Antioxidants (Basel)
; 12(5)2023 May 15.
Article
in English
| MEDLINE | ID: mdl-37237966
13.
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.
Front Genet
; 14: 1209138, 2023.
Article
in English
| MEDLINE | ID: mdl-37547463
14.
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Front Immunol
; 13: 869033, 2022.
Article
in English
| MEDLINE | ID: mdl-35655776
15.
A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A.
Metabolites
; 12(1)2021 Dec 21.
Article
in English
| MEDLINE | ID: mdl-35050128
16.
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Hum Mutat
; 31(12): E1894-914, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20886637
17.
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.
Hum Mutat
; 31(4): E1261-85, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20104590
18.
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
Biochim Biophys Acta
; 1792(6): 548-54, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19376225
19.
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
Hum Mutat
; 30(11): E956-73, 2009 Nov.
Article
in English
| MEDLINE | ID: mdl-19634183
20.
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
Neurogenetics
; 10(3): 229-39, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19252935