Detalhe da pesquisa
1.
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.
Hum Mol Genet
; 31(22): 3897-3913, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35766882
2.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Int J Mol Sci
; 23(19)2022 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233161
3.
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.
Hum Mol Genet
; 28(10): 1629-1644, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30624633
4.
Molecular determinants of enhanced response to somatostatin receptor ligands after debulking in large GH-producing adenomas.
Clin Endocrinol (Oxf)
; 94(5): 811-819, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32978826
5.
Expanding the ß-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
Int J Mol Sci
; 22(5)2021 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33801522
6.
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
Neurogenetics
; 18(4): 245-250, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28975462
7.
Prevalence, Clinical Features, and Natural History of Incidental Clinically Non-Functioning Pituitary Adenomas.
Horm Metab Res
; 49(9): 654-659, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28759937
8.
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Brain
; 139(Pt 1): 62-72, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497905
9.
RNA-seq analysis in simulated microgravity unveils down-regulation of the beta-rhizobial siderophore phymabactin.
NPJ Microgravity
; 10(1): 44, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570513
10.
Pituitary dysfunction after traumatic brain injury in children: is there a need for ongoing endocrine assessment?
Clin Endocrinol (Oxf)
; 79(6): 853-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23650946
11.
Molecular characterization of epithelial-mesenchymal transition and medical treatment related-genes in non-functioning pituitary neuroendocrine tumors.
Front Endocrinol (Lausanne)
; 14: 1129213, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37033229
12.
Endocrine Late Effects in Childhood Cancer Survivors.
Cancers (Basel)
; 14(11)2022 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35681610
13.
A novel function of the key nitrogen-fixation activator NifA in beta-rhizobia: Repression of bacterial auxin synthesis during symbiosis.
Front Plant Sci
; 13: 991548, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36247538
14.
c-di-AMP signaling is required for bile salt resistance, osmotolerance, and long-term host colonization by Clostridioides difficile.
Sci Signal
; 15(750): eabn8171, 2022 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067333
15.
Assessment of thyroid function in the preterm and/or very low birth weight newborn.
An Pediatr (Engl Ed)
; 95(4): 277.e1-277.e8, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34535429
16.
[Assessment of thyroid function in the preterm and/or very low birth weight newborn]. / Evaluación de la función tiroidea en el recién nacido pretérmino o de muy bajo peso.
An Pediatr (Engl Ed)
; 2021 May 08.
Artigo
em Espanhol
| MEDLINE | ID: mdl-33975810
17.
Metabolomics and Dual RNA-Sequencing on Root Nodules Revealed New Cellular Functions Controlled by Paraburkholderia phymatum NifA.
Metabolites
; 11(7)2021 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34357349
18.
Paraburkholderia phymatum Homocitrate Synthase NifV Plays a Key Role for Nitrogenase Activity during Symbiosis with Papilionoids and in Free-Living Growth Conditions.
Cells
; 10(4)2021 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33924023
19.
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).
Antioxidants (Basel)
; 9(10)2020 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33092153
20.
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Ann Clin Transl Neurol
; 7(8): 1436-1442, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32767480