Detalhe da pesquisa
1.
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.
Ann Neurol
; 86(3): 332-343, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206741
2.
Current concepts in the neuropathogenesis of mucolipidosis type IV.
J Neurochem
; 148(5): 669-689, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770442
3.
Cyclodextrin has conflicting actions on autophagy flux in vivo in brains of normal and Alzheimer model mice.
Hum Mol Genet
; 26(5): 843-859, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28062666
4.
Intrathecal 2-hydroxypropyl-ß-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Lancet
; 390(10104): 1758-1768, 2017 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803710
5.
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
Am J Pathol
; 187(4): 864-883, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28342444
6.
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.
Neurobiol Dis
; 105: 257-270, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28610891
7.
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Hum Mol Genet
; 24(7): 1856-68, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25452429
8.
Niemann-Pick disease, type C and Roscoe Brady.
Mol Genet Metab
; 120(1-2): 34-37, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923544
9.
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
J Neurosci
; 35(21): 8091-106, 2015 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26019327
10.
Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits.
Brain
; 137(Pt 12): 3300-18, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25270989
11.
Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease.
J Neurosci
; 33(26): 10815-27, 2013 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804102
12.
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.
Hum Mol Genet
; 21(16): 3632-46, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22619379
13.
Using team-based precision medicine to advance understanding of rare genetic brain disorders.
J Neurodev Disord
; 16(1): 10, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491427
14.
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.
J Lipid Res
; 54(10): 2800-14, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23881911
15.
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.
J Biol Chem
; 287(47): 39349-60, 2012 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23035117
16.
Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood-brain barrier permeability.
J Inherit Metab Dis
; 36(3): 491-8, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23412751
17.
Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.
Am J Pathol
; 179(2): 890-902, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21708114
18.
Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats.
Pediatr Res
; 71(1): 39-45, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22289849
19.
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.
Brain
; 134(Pt 11): 3369-83, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21964919
20.
Biodistribution and pharmacodynamics of recombinant human alpha-L-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations.
Mol Genet Metab
; 103(3): 268-74, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21482164