Works matching DE "CANAVAN disease"
Results: 42
Parkinson’s disease: oxidative stress and therapeutic approaches.
- Published in:
- Neurological Sciences, 2010, v. 31, n. 5, p. 531, doi. 10.1007/s10072-010-0245-1
- By:
- Publication type:
- Article
Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease.
- Published in:
- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00161
- By:
- Publication type:
- Article
Suppressing N-Acetyl-L-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy.
- Published in:
- Journal of Neuroscience, 2017, v. 37, n. 2, p. 413, doi. 10.1523/JNEUROSCI.2013-16.2017
- By:
- Publication type:
- Article
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 43, p. 14501, doi. 10.1523/JNEUROSCI.1056-15.2015
- By:
- Publication type:
- Article
Neurometabolic and genetic diseases: a question of screening?
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 11, p. 967, doi. 10.1111/dmcn.12003
- By:
- Publication type:
- Article
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007329
- By:
- Publication type:
- Article
Stoffwechselstörungen mit typischen Veränderungen im MRT.
- Published in:
- Der Radiologe, 2010, v. 50, n. 9, p. 775, doi. 10.1007/s00117-009-1951-7
- By:
- Publication type:
- Article
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).
- Published in:
- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 8, p. 2729, doi. 10.1534/g3.117.043018
- By:
- Publication type:
- Article
A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).
- Published in:
- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 2, p. 663, doi. 10.1534/g3.116.038455
- By:
- Publication type:
- Article
Are Astrocytes the Missing Link Between Lack of Brain Aspartoacylase Activity and the Spongiform Leukodystrophy in Canavan Disease?
- Published in:
- Neurochemical Research, 2009, v. 34, n. 9, p. 1523, doi. 10.1007/s11064-009-9958-z
- By:
- Publication type:
- Article
Myelin Lipid Abnormalities in the Aspartoacylase-Deficient Tremor Rat.
- Published in:
- Neurochemical Research, 2009, v. 34, n. 1, p. 138, doi. 10.1007/s11064-008-9726-5
- By:
- Publication type:
- Article
Neuroprotective role of lipoic acid against acute toxicity of N-acetylaspartic acid.
- Published in:
- Molecular & Cellular Biochemistry, 2010, v. 344, n. 1/2, p. 231, doi. 10.1007/s11010-010-0547-x
- By:
- Publication type:
- Article
A novel Aspartoacylase (ASPA) Gene Mutation in Canavan Disease.
- Published in:
- Fetal & Pediatric Pathology, 2012, v. 31, n. 4, p. 236, doi. 10.3109/15513815.2011.650292
- By:
- Publication type:
- Article
Canavan disease - unusual imaging features in a child with mild clinical presentation.
- Published in:
- Pediatric Radiology, 2015, v. 45, n. 3, p. 457, doi. 10.1007/s00247-014-3116-8
- By:
- Publication type:
- Article
RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterations.
- Published in:
- Journal of Neurochemistry, 2009, v. 110, n. 2, p. 641, doi. 10.1111/j.1471-4159.2009.06162.x
- By:
- Publication type:
- Article
Miscellaneous.
- Published in:
- Current Medical Literature: Neurology, 2009, v. 25, n. 4, p. 121
- Publication type:
- Article
Aspartoacylase supports oxidative energy metabolism during myelination.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 2012, v. 32, n. 9, p. 1725, doi. 10.1038/jcbfm.2012.66
- By:
- Publication type:
- Article
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
- Published in:
- Acta Neuropathologica, 2018, v. 135, n. 1, p. 95, doi. 10.1007/s00401-017-1784-9
- By:
- Publication type:
- Article
A Single Intravenous rAAV Injection as Late as P20 Achieves Efficacious and Sustained CNS Gene Therapy in Canavan Mice.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 12, p. 2136, doi. 10.1038/mt.2013.138
- By:
- Publication type:
- Article
Gene Therapy for Canavan's Disease Takes a Step Forward.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 3, p. 505, doi. 10.1038/mt.2013.25
- By:
- Publication type:
- Article
904. The Systemic Human Immune Response to Intraparenchymal Administration of AAV.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S348, doi. 10.1016/j.ymthe.2006.08.993
- By:
- Publication type:
- Article
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
A next step in adeno-associated virus-mediated gene therapy for neurological diseases: regulation and targeting.
- Published in:
- British Journal of Clinical Pharmacology, 2013, v. 76, n. 2, p. 217, doi. 10.1111/bcp.12065
- By:
- Publication type:
- Article
Upregulation of N-acetylaspartic Acid Induces Oxidative Stress to Contribute in Disease Pathophysiology.
- Published in:
- International Journal of Neuroscience, 2011, v. 121, n. 6, p. 305, doi. 10.3109/00207454.2011.558225
- By:
- Publication type:
- Article
Canavan disease with typical brain MRI and MRS findings.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82778-0
- By:
- Publication type:
- Article
Makrosefali ayırıcı tanısında Canavan hastalığı: Olgu sunumu.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2012, v. 2, n. 2, p. 107, doi. 10.5222/buchd.2012.107
- By:
- Publication type:
- Article
The elephant in the classroom.
- Published in:
- International Journal of Inclusive Education, 2009, v. 13, n. 7, p. 699, doi. 10.1080/13603110903045996
- By:
- Publication type:
- Article
Nur7 Is a Nonsense Mutation in the Mouse Aspartoacylase Gene That Causes Spongy Degeneration of the CNS.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 45, p. 11537, doi. 10.1523/JNEUROSCI.1490-08.2008
- By:
- Publication type:
- Article
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
- Published in:
- Molecular Biology Reports, 2012, v. 39, n. 5, p. 6197, doi. 10.1007/s11033-011-1438-2
- By:
- Publication type:
- Article
Canavan disease: a rare form of leukodystrophy.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Loss of Central Auditory Processing in a Mouse Model of Canavan Disease.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097374
- By:
- Publication type:
- Article
Aspartoacylase-LacZ Knockin Mice: An Engineered Model of Canavan Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020336
- By:
- Publication type:
- Article
Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 6, p. 2105, doi. 10.1007/s11011-017-0090-5
- By:
- Publication type:
- Article
Investigation of the motor system in two siblings with Canavan's disease: a combined transcranial magnetic stimulation (TMS) - diffusion tensor imaging (DTI) study.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 2, p. 307, doi. 10.1007/s11011-017-9955-x
- By:
- Publication type:
- Article
Two patients with Canavan disease and structural modeling of a novel mutation.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 1, p. 171, doi. 10.1007/s11011-016-9896-9
- By:
- Publication type:
- Article
Novel mutation in an Egyptian patient with infantile Canavan disease.
- Published in:
- Metabolic Brain Disease, 2016, v. 31, n. 3, p. 573, doi. 10.1007/s11011-015-9772-z
- By:
- Publication type:
- Article
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
- Published in:
- Metabolic Brain Disease, 2016, v. 31, n. 3, p. 587, doi. 10.1007/s11011-015-9778-6
- By:
- Publication type:
- Article
Structural modeling of p.V31F variant in the aspartoacylase gene.
- Published in:
- Metabolic Brain Disease, 2016, v. 31, n. 3, p. 723, doi. 10.1007/s11011-016-9796-z
- By:
- Publication type:
- Article
Atypical clinical and radiological course of a patient with Canavan disease.
- Published in:
- Metabolic Brain Disease, 2016, v. 31, n. 2, p. 475, doi. 10.1007/s11011-015-9767-9
- By:
- Publication type:
- Article
N-acetylaspartic acid impairs enzymatic antioxidant defenses and enhances hydrogen peroxide concentration in rat brain.
- Published in:
- Metabolic Brain Disease, 2010, v. 25, n. 2, p. 251, doi. 10.1007/s11011-010-9202-1
- By:
- Publication type:
- Article
Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats.
- Published in:
- Metabolic Brain Disease, 2009, v. 24, n. 2, p. 283, doi. 10.1007/s11011-009-9137-6
- By:
- Publication type:
- Article