Detalhe da pesquisa
1.
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
Hum Mol Genet
; 31(16): 2693-2710, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35313342
2.
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
Acta Neuropathol
; 144(3): 437-464, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876881
3.
Fiber optic Raman spectroscopy for the evaluation of disease state in Duchenne muscular dystrophy: An assessment using the mdx model and human muscle.
Muscle Nerve
; 66(3): 362-369, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35762576
4.
C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis.
Brain
; 142(12): 3771-3790, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31647549
5.
Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization.
Brain Commun
; 5(1): fcac335, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36632189
6.
In Vivo Fiber Optic Raman Spectroscopy of Muscle in Preclinical Models of Amyotrophic Lateral Sclerosis and Duchenne Muscular Dystrophy.
ACS Chem Neurosci
; 12(10): 1768-1776, 2021 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33950665
7.
Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular Atrophy.
Mol Ther Methods Clin Dev
; 9: 81-89, 2018 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29552580
8.
Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALS.
Mol Ther Nucleic Acids
; 12: 75-88, 2018 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30195799
9.
Site Specific Modification of Adeno-Associated Virus Enables Both Fluorescent Imaging of Viral Particles and Characterization of the Capsid Interactome.
Sci Rep
; 7(1): 14766, 2017 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29116194
10.
Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.
Dis Model Mech
; 10(7): 859-868, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550099
11.
C9orf72 expansion disrupts ATM-mediated chromosomal break repair.
Nat Neurosci
; 20(9): 1225-1235, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714954
12.
AAV9-mediated central nervous system-targeted gene delivery via cisterna magna route in mice.
Mol Ther Methods Clin Dev
; 3: 15055, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942208