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1.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30825406
2.
A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome.
J Allergy Clin Immunol
; 146(5): 1201-1204.e8, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32283203
3.
Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation.
Nat Commun
; 15(1): 3016, 2024 Apr 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38589367
4.
The Pesticide Chlordecone Promotes Parkinsonism-like Neurodegeneration with Tau Lesions in Midbrain Cultures and C. elegans Worms.
Cells
; 12(9)2023 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37174736
5.
Rescue of Dopamine Neurons from Iron-Dependent Ferroptosis by Doxycycline and Demeclocycline and Their Non-Antibiotic Derivatives.
Antioxidants (Basel)
; 12(3)2023 Feb 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36978822
6.
Modelling α-Synuclein Aggregation and Neurodegeneration with Fibril Seeds in Primary Cultures of Mouse Dopaminergic Neurons.
Cells
; 11(10)2022 05 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35626675
7.
Neuroprotective Effects of a Novel Demeclocycline Derivative Lacking Antibiotic Activity: From a Hit to a Promising Lead Compound.
Cells
; 11(17)2022 09 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36078167
8.
Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness.
Ophthalmic Genet
; 40(2): 182-184, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31063016
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