Detalhe da pesquisa
1.
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
Mol Genet Metab
; 140(3): 107700, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37774431
2.
Focal neuromyotonia associated with a C9ORF72 expansion mutation.
Muscle Nerve
; 62(4): E63-E65, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32578243
3.
ANXA1 mutation analysis in Italian patients with early onset PD.
Neurobiol Aging
; 125: 123-124, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36828691
4.
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.
Proc Natl Acad Sci U S A
; 106(9): 3437-42, 2009 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19211803
5.
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients.
Neurobiol Aging
; 112: 12-15, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35007998
6.
The anticancer effects of Metformin in the male germ tumor SEM-1 cell line are mediated by HMGA1.
Front Endocrinol (Lausanne)
; 13: 1051988, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36506071
7.
Methylglyoxal Adducts Levels in Blood Measured on Dried Spot by Portable Near-Infrared Spectroscopy.
Nanomaterials (Basel)
; 11(9)2021 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34578748
8.
Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation.
Eur J Pediatr
; 169(2): 245-7, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19517134
9.
Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.
BMC Pediatr
; 10: 32, 2010 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-20478016
10.
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.
Neurobiol Aging
; 93: 143.e5-143.e7, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32402491
11.
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome.
Heliyon
; 5(6): e01954, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294106
12.
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.
Parkinsonism Relat Disord
; 55: 134-137, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29887357
13.
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy.
J Neurol Sci
; 430: 120031, 2021 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34695705
14.
Cytosolic carbonic anhydrase activity in chronic myeloid disorders with different clinical phenotype.
Biochim Biophys Acta
; 1689(3): 179-81, 2004 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-15276643
15.
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.
Am J Med Genet A
; 152A(11): 2898-900, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20949528
16.
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Orphanet J Rare Dis
; 10: 14, 2015 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25757997
17.
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Hum Mutat
; 24(3): 272, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15300855
18.
Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
Ital J Pediatr
; 40: 90, 2014 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25410126
19.
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.
Proc Natl Acad Sci U S A
; 101(33): 12300-5, 2004 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-15295099
20.
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
Proc Natl Acad Sci U S A
; 101(17): 6617-22, 2004 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-15090652