Detalhe da pesquisa
1.
Treatment with THI, an inhibitor of sphingosine-1-phosphate lyase, modulates glycosphingolipid metabolism and results therapeutically effective in experimental models of Huntington's disease.
Mol Ther
; 31(1): 282-299, 2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116006
2.
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model.
Child Psychiatry Hum Dev
; 52(4): 654-668, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32880036
3.
Allosteric activation of M4 muscarinic receptors improve behavioral and physiological alterations in early symptomatic YAC128 mice.
Proc Natl Acad Sci U S A
; 112(45): 14078-83, 2015 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26508634
4.
Reduced bioavailable manganese causes striatal urea cycle pathology in Huntington's disease mouse model.
Biochim Biophys Acta Mol Basis Dis
; 1863(6): 1596-1604, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213125
5.
BDNF and Huntingtin protein modifications by manganese: implications for striatal medium spiny neuron pathology in manganese neurotoxicity.
J Neurochem
; 131(5): 655-66, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099302
6.
Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder.
Front Neurosci
; 17: 1024388, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36895422
7.
A disease concept model for STXBP1-related disorders.
Epilepsia Open
; 8(2): 320-333, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36625631
8.
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).
J Neurodev Disord
; 15(1): 22, 2023 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37495977
9.
A draft conceptual model of SLC6A1 neurodevelopmental disorder.
Front Neurosci
; 16: 1026065, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36741059
10.
Angelman syndrome: Mutations influence features in early childhood.
Am J Med Genet A
; 155A(1): 81-90, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204213
11.
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.
Neurobiol Dis
; 39(3): 283-91, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20423730
12.
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
Am J Med Genet A
; 152A(8): 1994-2001, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20635355
13.
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
Orphanet J Rare Dis
; 14(1): 232, 2019 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31640736
14.
Embryonic Mutant Huntingtin Aggregate Formation in Mouse Models of Huntington's Disease.
J Huntingtons Dis
; 5(4): 343-346, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27886014
15.
Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.
Cell Rep
; 17(12): 3115-3124, 2016 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28009282
16.
Ube3a imprinting impairs circadian robustness in Angelman syndrome models.
Curr Biol
; 25(5): 537-45, 2015 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25660546
17.
Novel BAC Mouse Model of Huntington's Disease with 225 CAG Repeats Exhibits an Early Widespread and Stable Degenerative Phenotype.
J Huntingtons Dis
; 4(1): 17-36, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333255
18.
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
J Dev Behav Pediatr
; 31(7): 592-601, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20729760