Detalhe da pesquisa
1.
Quantitation of Pax-6 protein in ocular impression cytology samples using an electrochemiluminescence immunoassay.
Anal Biochem
; 656: 114876, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36058293
2.
Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.
Hum Mol Genet
; 27(19): 3404-3416, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982416
3.
Natural history of infantile-onset spinal muscular atrophy.
Ann Neurol
; 82(6): 883-891, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29149772
4.
SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA.
Hum Mol Genet
; 24(19): 5524-41, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206889
5.
Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.
Hum Mol Genet
; 24(21): 6160-73, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26276812
6.
Activity of recombinant cysteine-rich domain proteins derived from the membrane-bound MUC17/Muc3 family mucins.
Biochim Biophys Acta
; 1800(7): 629-38, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20332014
7.
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.
J Clin Invest
; 129(11): 4817-4831, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31589162
8.
Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.
PLoS One
; 13(9): e0203398, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30188931
9.
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.
Ann Clin Transl Neurol
; 3(2): 132-45, 2016 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26900585
10.
Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.
PLoS One
; 10(10): e0139950, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26468953
11.
A high throughput screen for inhibitors of fungal cell wall synthesis.
J Biomol Screen
; 7(4): 359-66, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12230890
12.
Assays for the identification and prioritization of drug candidates for spinal muscular atrophy.
Assay Drug Dev Technol
; 12(6): 315-41, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25147906
13.
A comparison of three electrophysiological methods for the assessment of disease status in a mild spinal muscular atrophy mouse model.
PLoS One
; 9(10): e111428, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25347197
14.
Yeast sphingolipid bypass mutants as indicators of antifungal agents selectively targeting sphingolipid synthesis.
Biochem Biophys Res Commun
; 307(2): 369-74, 2003 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-12859966