Detalhe da pesquisa
1.
Oxidative stress is independent of inflammation in the neurodegenerative Sanfilippo syndrome type B.
J Neurosci Res
; 93(3): 424-32, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25332157
2.
GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease.
Hum Mol Genet
; 21(7): 1481-95, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22156940
3.
Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.
Hum Mol Genet
; 20(18): 3653-66, 2011 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21685203
4.
Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.
Mol Ther
; 19(2): 251-9, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21139569
5.
Storage vesicles in neurons are related to Golgi complex alterations in mucopolysaccharidosis IIIB.
Am J Pathol
; 177(6): 2984-99, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21037080
6.
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
Am J Med Genet A
; 155A(1): 58-68, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204211
7.
Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome.
Front Neurol
; 12: 640547, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054689
8.
Cell-Mediated Immunity to NAGLU Transgene Following Intracerebral Gene Therapy in Children With Mucopolysaccharidosis Type IIIB Syndrome.
Front Immunol
; 12: 655478, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040605
9.
Intracerebral Gene Therapy in Four Children with Sanfilippo B Syndrome: 5.5-Year Follow-Up Results.
Hum Gene Ther
; 32(19-20): 1251-1259, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405688
10.
GAP43 overexpression and enhanced neurite outgrowth in mucopolysaccharidosis type IIIB cortical neuron cultures.
J Neurosci Res
; 88(1): 202-13, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19658197
11.
Storage problems in lysosomal diseases.
Biochem Soc Trans
; 38(6): 1442-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21118104
12.
Combination of microsurgery and gene therapy for spinal dorsal root injury repair.
Mol Ther
; 17(6): 992-1002, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19240691
13.
Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB.
Mol Cell Neurosci
; 41(1): 8-18, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19386237
14.
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.
Orphanet J Rare Dis
; 15(1): 3, 2020 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31907071
15.
Directed evolution of motor neurons from genetically engineered neural precursors.
Stem Cells
; 26(10): 2564-75, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18635866
16.
Research activity and capability in the European reference network MetabERN.
Orphanet J Rare Dis
; 14(1): 119, 2019 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31142374
17.
Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice.
Mol Genet Metab
; 94(1): 135-8, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18325808
18.
Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial.
Lancet Neurol
; 16(9): 712-720, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28713035
19.
Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.
J Neurosci
; 24(45): 10229-39, 2004 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-15537895
20.
Transport-deficient Pit2 phosphate transporters still modify cell surface oligomers structure in response to inorganic phosphate.
J Mol Biol
; 340(1): 39-47, 2004 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-15184021