Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-34073924
2.
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
J Inherit Metab Dis
; 43(3): 574-585, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707734
3.
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
em Inglês
| MEDLINE | ID: mdl-28379564
4.
Cerebrospinal fluid ß-glucocerebrosidase activity is reduced in parkinson's disease patients.
Mov Disord
; 32(10): 1423-1431, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28843015
5.
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Hum Mutat
; 37(2): 139-47, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26499107
6.
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
em Inglês
| MEDLINE | ID: mdl-26018676
7.
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
em Inglês
| MEDLINE | ID: mdl-24150945
8.
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
Clin Genet
; 95(2): 336-338, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450550
9.
Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort.
Biomedicines
; 12(2)2024 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397906
10.
Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.
Mol Genet Metab
; 102(2): 226-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21036086
11.
Expression of the tumor-expressed protein MageB2 enhances rRNA transcription.
Biochim Biophys Acta Mol Cell Res
; 1868(7): 119015, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33741433
12.
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD).
J Clin Med
; 10(20)2021 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34682919
13.
Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis.
JIMD Rep
; 55(1): 15-21, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905047
14.
A Streamlined Approach to Rapidly Detect SARS-CoV-2 Infection Avoiding RNA Extraction: Workflow Validation.
Dis Markers
; 2020: 8869424, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33343767
15.
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
J Clin Med
; 9(3)2020 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32138288
16.
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.
J Cell Mol Med
; 13(9B): 3786-96, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18774957
17.
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
Neurogenetics
; 10(1): 49-58, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18758829
18.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-19252935
19.
Histone acetylation as a new mechanism for bilirubin-induced encephalopathy in the Gunn rat.
Sci Rep
; 8(1): 13690, 2018 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209300
20.
GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.
J Mol Diagn
; 19(5): 733-741, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28727984