Detalhe da pesquisa
1.
Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.
Hum Mol Genet
; 32(8): 1276-1288, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413117
2.
TRPV4 Antagonism Prevents Mechanically Induced Myotonia.
Ann Neurol
; 88(2): 297-308, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418267
3.
Implications of increased S100ß and Tau5 proteins in dystrophic nerves of two mdx mouse models for Duchenne muscular dystrophy.
Mol Cell Neurosci
; 105: 103484, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32240725
4.
Effect of genetic background on the dystrophic phenotype in mdx mice.
Hum Mol Genet
; 25(1): 130-45, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566673
5.
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Genome Res
; 25(7): 948-57, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25917818
6.
Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy.
Proc Natl Acad Sci U S A
; 112(43): E5863-72, 2015 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26460027
7.
Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models.
Hum Mol Genet
; 21(20): 4431-47, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22802075
8.
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
Sci Transl Med
; 16(748): eadk1358, 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776392
9.
A valid mouse model of AGRIN-associated congenital myasthenic syndrome.
Hum Mol Genet
; 20(23): 4617-33, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890498
10.
AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
J Clin Invest
; 131(11)2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33878035
11.
"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic.
J Neuromuscul Dis
; 5(4): 407-417, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30198876
12.
Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy.
J Neuromuscul Dis
; 4(2): 115-126, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550268
13.
Shaggy, the homolog of glycogen synthase kinase 3, controls neuromuscular junction growth in Drosophila.
J Neurosci
; 24(29): 6573-7, 2004 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-15269269
14.
The Drosophila metabotropic glutamate receptor DmGluRA regulates activity-dependent synaptic facilitation and fine synaptic morphology.
J Neurosci
; 24(41): 9105-16, 2004 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-15483129
15.
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD.
Neuron
; 88(5): 892-901, 2015 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637796
16.
C57BL/6J congenic Prp-TDP43A315T mice develop progressive neurodegeneration in the myenteric plexus of the colon without exhibiting key features of ALS.
Brain Res
; 1584: 59-72, 2014 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24141148
17.
Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.
Dis Model Mech
; 6(3): 780-92, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23519028
18.
A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes.
PLoS One
; 7(1): e30217, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22272310
19.
Muscle dystroglycan organizes the postsynapse and regulates presynaptic neurotransmitter release at the Drosophila neuromuscular junction.
PLoS One
; 3(4): e2084, 2008 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-18446215
20.
Expression of Drosophila BarH1-H2 homeoproteins in developing dopaminergic cells and segmental nerve a (SNa) motoneurons.
Eur J Neurosci
; 24(1): 37-44, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16882006