Detalhe da pesquisa
1.
Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy.
Hum Mol Genet
; 29(24): 3945-3953, 2021 02 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33410456
2.
VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy.
J Transl Med
; 20(1): 21, 2022 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34998409
3.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
J Med Genet
; 58(5): 314-325, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32518176
4.
A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6.
J Pharmacol Exp Ther
; 378(1): 31-41, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33931547
5.
Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes.
Am J Med Genet A
; 179(1): 29-36, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30556641
6.
Plasma cell-free DNA: a potential biomarker for early prediction of severe dengue.
Ann Clin Microbiol Antimicrob
; 18(1): 10, 2019 Mar 13.
Artigo
Inglês
| MEDLINE | ID: mdl-30871553
7.
Association between dengue severity and plasma levels of dengue-specific IgE and chymase.
Arch Virol
; 163(9): 2337-2347, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29728909
8.
Expression level of R155H mRNA in the knock-in mouse model.
Biochem Biophys Res Commun
; 523(4): 985-986, 2020 03 19.
Artigo
Inglês
| MEDLINE | ID: mdl-31973812
9.
Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease.
bioRxiv
; 2024 Mar 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38464319
10.
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Autophagy
; 19(8): 2217-2239, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36854646
11.
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
Neuromuscul Disord
; 32(4): 284-294, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35365393
12.
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
Orphanet J Rare Dis
; 17(1): 386, 2022 10 24.
Artigo
Inglês
| MEDLINE | ID: mdl-36280881
13.
Kinetics of CD4+ T Helper and CD8+ Effector T Cell Responses in Acute Dengue Patients.
Front Immunol
; 11: 1980, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33072068
14.
Genetic risk for dengue hemorrhagic fever and dengue fever in multiple ancestries.
EBioMedicine
; 51: 102584, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31901861
15.
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.
Neurol Genet
; 5(4): e349, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31403083
16.
Novel valosin-containing protein mutations associated with multisystem proteinopathy.
Neuromuscul Disord
; 28(6): 491-501, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29754758
17.
Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery.
PLoS One
; 12(6): e0176919, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28575052