Detalhe da pesquisa
1.
Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100.
RNA Biol
; 17(1): 62-74, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31559909
2.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
3.
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Hum Mutat
; 38(5): 556-568, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28144995
4.
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.
Hum Mutat
; 37(11): 1202-1208, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27492805
5.
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
J Peripher Nerv Syst
; 20(4): 415-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307494
6.
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.
Neuropathology
; 35(3): 254-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388615
7.
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149.
Biochem Biophys Res Commun
; 443(1): 246-51, 2014 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24299952
8.
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
J Peripher Nerv Syst
; 19(4): 292-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25429913
9.
Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.
Ann Neurol
; 71(3): 427-31, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22451207
10.
Glassy dynamics of soft matter under 1D confinement: how irreversible adsorption affects molecular packing, mobility gradients and orientational polarization in thin films.
Eur Phys J E Soft Matter
; 36(6): 61, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23797356
11.
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
J Peripher Nerv Syst
; 17(3): 351-5, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22971097
12.
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
J Peripher Nerv Syst
; 16(4): 287-94, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22176143
13.
Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism.
Brain Commun
; 3(4): fcab253, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34746789
14.
Co-translational assembly of mammalian nuclear multisubunit complexes.
Nat Commun
; 10(1): 1740, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30988355
15.
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.
J Neurol Sci
; 343(1-2): 183-6, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24880540
16.
Supercooled liquids with enhanced orientational order.
Nat Commun
; 3: 1233, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23212362
17.
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
Eur J Hum Genet
; 17(9): 1129-34, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19293842
18.
Polymer brushes grafted to "passivated" silicon substrates using click chemistry.
Langmuir
; 24(6): 2732-9, 2008 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-18247640