Detalhe da pesquisa
1.
Lentiviral-Induced Spinal Cord Gliomas in Rat Model.
Int J Mol Sci
; 22(23)2021 Nov 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34884748
2.
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
Hum Mol Genet
; 21(8): 1794-807, 2012 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22210628
3.
L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model.
Ann Neurol
; 73(2): 259-65, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23224983
4.
Intrathecal Vector Delivery in Juvenile Rats via Lumbar Cistern Injection.
J Vis Exp
; (205)2024 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38619261
5.
Current and emerging targeted therapies for spinal muscular atrophy.
Expert Rev Neurother
; 23(12): 1189-1199, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37843301
6.
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Hum Mutat
; 33(8): 1207-15, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22508683
7.
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.
Mol Ther
; 19(12): 2114-23, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21878905
8.
Neonatal diagnosis and treatment of Menkes disease.
N Engl J Med
; 358(6): 605-14, 2008 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-18256395
9.
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.
Ann Neurol
; 65(1): 108-13, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19194885
10.
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.
Am J Med Genet A
; 152A(10): 2529-34, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20799318
11.
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
J Inherit Metab Dis
; 33(5): 583-9, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20652413
12.
Controlling the Release of Neurotrophin-3 and Chondroitinase ABC Enhances the Efficacy of Nerve Guidance Conduits.
Adv Healthc Mater
; 9(14): e2000200, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32548984
13.
Minimally Invasive Injection to the Phrenic Nerve in a Porcine Hemidiaphragmatic Paralysis Model: A Pilot Study.
Neurosurgery
; 87(4): 847-853, 2020 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31625573
14.
Lot-to-Lot Variation in Adeno-Associated Virus Serotype 9 (AAV9) Preparations.
Hum Gene Ther Methods
; 30(6): 214-225, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31752530
15.
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
Mol Genet Metab
; 95(3): 174-81, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18752978
16.
Central nervous system-directed AAV2/5-mediated gene therapy synergizes with bone marrow transplantation in the murine model of globoid-cell leukodystrophy.
Mol Ther
; 15(1): 44-52, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17164774
17.
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
J Med Genet
; 44(8): 492-7, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17496194
18.
A novel antibody to treat SOD1-related amyotrophic lateral sclerosis.
Mol Ther Methods Clin Dev
; 29: 236-237, 2023 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37090477
19.
Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses.
Expert Opin Biol Ther
; 18(7): 755-764, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29936867
20.
Gene Therapy for the Treatment of Neurological Disorders: Amyotrophic Lateral Sclerosis.
Methods Mol Biol
; 1382: 399-408, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26611602