Detalhe da pesquisa
1.
Progeria: a paradigm for translational medicine.
Cell
; 156(3): 400-7, 2014 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24485450
2.
In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.
Nature
; 589(7843): 608-614, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408413
3.
Plasma Progerin in Patients With Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation.
Circulation
; 147(23): 1734-1744, 2023 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36919608
4.
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.
Pediatr Res
; 95(5): 1356-1362, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191824
5.
Baseline Range of Motion, Strength, Motor Function, and Participation in Youth with Hutchinson-Gilford Progeria Syndrome.
Phys Occup Ther Pediatr
; 43(4): 482-501, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36628480
6.
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
Am J Med Genet A
; 188(1): 216-223, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34611991
7.
Base editor treats progeria in mice.
Nature
; 2021 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34285403
8.
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.
Proc Natl Acad Sci U S A
; 115(16): 4206-4211, 2018 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29581305
9.
Progression of Cardiac Abnormalities in Hutchinson-Gilford Progeria Syndrome: A Prospective Longitudinal Study.
Circulation
; 147(23): 1782-1784, 2023 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37276254
10.
Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations.
Proc Natl Acad Sci U S A
; 113(46): E7250-E7259, 2016 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27799555
11.
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Hum Genet
; 137(11-12): 921-939, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450527
12.
Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib.
Pediatr Res
; 83(5): 982-992, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342131
13.
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
J Med Genet
; 54(3): 212-216, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920058
14.
Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.
JAMA
; 319(16): 1687-1695, 2018 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29710166
15.
Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome.
Circulation
; 134(2): 114-25, 2016 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27400896
16.
Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome.
Circulation
; 130(1): 27-34, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24795390
17.
Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome.
Proc Natl Acad Sci U S A
; 109(41): 16666-71, 2012 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-23012407
18.
Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome.
Pediatr Dermatol
; 31(2): 196-202, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24456199
19.
Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome.
Front Cardiovasc Med
; 11: 1356010, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725831
20.
The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.
Nucleus
; 14(1): 2288476, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050983