Detalhe da pesquisa
1.
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Brain
; 146(3): 1093-1102, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35472722
2.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986737
3.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Mov Disord
; 37(8): 1707-1718, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699229
4.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord
; 37(6): 1175-1186, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150594
5.
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
J Med Genet
; 57(4): 283-288, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31439721
6.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 25(10): 100961, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650884
7.
Nutrient limitation governs Staphylococcus aureus metabolism and niche adaptation in the human nose.
PLoS Pathog
; 10(1): e1003862, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24453967
8.
A nasal epithelial receptor for Staphylococcus aureus WTA governs adhesion to epithelial cells and modulates nasal colonization.
PLoS Pathog
; 10(5): e1004089, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24788600
9.
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Genet Med
; 23(6): 1171-1172, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564152
10.
Cleavage of annexin A1 by ADAM10 during secondary necrosis generates a monocytic "find-me" signal.
J Immunol
; 188(1): 135-45, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22116825
11.
Ligand-binding properties and conformational dynamics of autolysin repeat domains in staphylococcal cell wall recognition.
J Bacteriol
; 194(15): 3789-802, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22609916
12.
Neutrophil responses to staphylococcal pathogens and commensals via the formyl peptide receptor 2 relates to phenol-soluble modulin release and virulence.
FASEB J
; 25(4): 1254-63, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21183593
13.
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Neurol Genet
; 8(1): e644, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34901436
14.
Temporal expression of adhesion factors and activity of global regulators during establishment of Staphylococcus aureus nasal colonization.
J Infect Dis
; 201(9): 1414-21, 2010 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20307206
15.
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
Sci Rep
; 10(1): 15093, 2020 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934269
16.
Peptide length and folding state govern the capacity of staphylococcal ß-type phenol-soluble modulins to activate human formyl-peptide receptors 1 or 2.
J Leukoc Biol
; 97(4): 689-97, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724390
17.
Human formyl peptide receptor 2 senses highly pathogenic Staphylococcus aureus.
Cell Host Microbe
; 7(6): 463-73, 2010 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-20542250