Detalhe da pesquisa
1.
Tracheostomy in children is associated with neutrophilic airway inflammation.
Thorax
; 78(10): 1019-1027, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36808087
2.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Am J Hum Genet
; 100(5): 706-724, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28413018
3.
Mitochondrial morphology and function: two for the price of one!
J Microsc
; 278(2): 89-106, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277765
4.
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.
Ann Neurol
; 84(2): 289-301, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014514
5.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
J Inherit Metab Dis
; 40(1): 121-130, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27696117
6.
Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes.
PLoS Genet
; 9(12): e1003928, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24415959
7.
Partial deletion of chromosome 8 ß-defensin cluster confers sperm dysfunction and infertility in male mice.
PLoS Genet
; 9(10): e1003826, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24204287
8.
A clinically useful simplified blastocyst grading system.
Reprod Biomed Online
; 31(4): 523-30, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283016
9.
Equine grass sickness is associated with major abnormalities in the ultrastructure of skeletal neuromuscular junctions.
Equine Vet J
; 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38301732
10.
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Nat Commun
; 15(1): 3138, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605034
11.
Development and Application of a Semi quantitative Scoring Method for Ultrastructural Assessment of Acute Stress in Pancreatic Islets.
Transplant Direct
; 8(1): e1271, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34934809
12.
pRB-Depleted Pluripotent Stem Cell Retinal Organoids Recapitulate Cell State Transitions of Retinoblastoma Development and Suggest an Important Role for pRB in Retinal Cell Differentiation.
Stem Cells Transl Med
; 11(4): 415-433, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325233
13.
Human Retinal Organoids Provide a Suitable Tool for Toxicological Investigations: A Comprehensive Validation Using Drugs and Compounds Affecting the Retina.
Stem Cells Transl Med
; 11(2): 159-177, 2022 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35298655
14.
Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
Clin Transl Med
; 12(3): e759, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35297555
15.
Conjunctival epithelial cells resist productive SARS-CoV-2 infection.
Stem Cell Reports
; 17(7): 1699-1713, 2022 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35750043
16.
Retinal pigment epithelium extracellular vesicles are potent inducers of age-related macular degeneration disease phenotype in the outer retina.
J Extracell Vesicles
; 11(12): e12295, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544284
17.
Neuromuscular toxicology of the venom of Collett's snake (Pseudechis colletti): a histopathological study.
Muscle Nerve
; 43(4): 552-9, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21305571
18.
3D neuronal mitochondrial morphology in axons, dendrites, and somata of the aging mouse hippocampus.
Cell Rep
; 36(6): 109509, 2021 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34380033
19.
Development of a physiological model of human middle ear epithelium.
Laryngoscope Investig Otolaryngol
; 6(5): 1167-1174, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34667862
20.
Development and validation of a quantitative electron microscopy score to assess acute cellular stress in the human exocrine pancreas.
J Pathol Clin Res
; 7(2): 173-187, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33225596