Works matching DE "NEURONAL ceroid-lipofuscinosis"
Results: 610
A Murine Model of Infantile Neuronal Ceroid Lipofuscinosis--Ultrastructural Evaluation of Storage in the Central Nervous System and Viscera.
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 3, p. 185, doi. 10.2350/07-03-0242.1
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- Article
Diversity of grip in Macaca mulatta.
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- Experimental Brain Research, 2009, v. 197, n. 3, p. 255, doi. 10.1007/s00221-009-1909-z
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- Article
Early nerve ending rescue from oxidative damage and energy failure by l-carnitine as post-treatment in two neurotoxic models in rat: recovery of antioxidant and reductive capacities.
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- Experimental Brain Research, 2009, v. 197, n. 3, p. 287, doi. 10.1007/s00221-009-1913-3
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- Article
A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease.
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- Neurological Sciences, 2024, v. 45, n. 9, p. 4597, doi. 10.1007/s10072-024-07579-5
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- Article
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
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- Neurological Sciences, 2021, v. 42, n. 3, p. 1103, doi. 10.1007/s10072-021-05067-8
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- Article
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
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- 2016
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- Case Study
A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
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- 2015
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- Publication type:
- Case Study
Clinical, ultrastructural, and molecular studies in a patient with Kufs disease.
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- 2014
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- Publication type:
- Letter
Characterization of Candidate Genes for Neuronal Ceroid Lipofuscinosis in Dog.
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- Journal of Heredity, 2005, v. 96, n. 7, p. 735, doi. 10.1093/jhered/esi088
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- Article
NHS agrees to bankroll Batten disease drug.
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- Learning Disability Practice, 2019, v. 22, n. 5, p. 7, doi. 10.7748/ldp.22.5.7.s4
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- Article
Batten disease.
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- Learning Disability Practice, 2019, v. 22, n. 5, p. 22, doi. 10.7748/ldp.22.5.22.s16
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- Article
Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients.
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- 2025
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- Publication type:
- Case Study
Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 209, doi. 10.3390/brainsci13020209
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- Article
STUDY OF SLEEP ARCHITECTURE IN NEURONAL CEROID LIPOFUSCINOSIS (NCL).
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- 2000
- Publication type:
- Abstract
Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan.
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- Animals (2076-2615), 2022, v. 12, n. 9, p. N.PAG, doi. 10.3390/ani12091210
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- Publication type:
- Article
Native and Complexed IGF-1: Biodistribution and Pharmacokinetics in Infantile Neuronal Ceroid Lipofuscinosis.
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- Journal of Drug Delivery, 2012, p. 1, doi. 10.1155/2012/626417
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- Article
Progranulin deficiency leads to reduced glucocerebrosidase activity.
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- PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0212382
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- Article
Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience.
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- Child: Care, Health & Development, 2022, v. 48, n. 5, p. 842, doi. 10.1111/cch.12993
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- Article
Ablation of Sphingosine 1-Phosphate Receptor Subtype 3 Impairs Hippocampal Neuron Excitability In vitro and Spatial Working Memory In vivo.
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- Frontiers in Cellular Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fncel.2016.00258
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- Article
Research highlights.
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- Nature Biotechnology, 2009, v. 27, n. 10, p. 920, doi. 10.1038/nbt1009-920
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- Article
Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease
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- FEBS Letters, 2003, v. 555, n. 2, p. 351, doi. 10.1016/S0014-5793(03)01274-2
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- Article
Membrane topology of CLN3, the protein underlying Batten disease
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- FEBS Letters, 2003, v. 541, n. 1-3, p. 40, doi. 10.1016/S0014-5793(03)00284-9
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- Article
Early changes in gene expression in two models of Batten disease
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- FEBS Letters, 2003, v. 538, n. 1-3, p. 207, doi. 10.1016/S0014-5793(03)00162-5
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- Article
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.
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- Cellular & Molecular Life Sciences, 2011, v. 68, n. 3, p. 453, doi. 10.1007/s00018-010-0468-6
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- Article
Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis.
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- Journal of Neuroscience, 2018, v. 38, n. 9, p. 2341, doi. 10.1523/JNEUROSCI.3081-17.2018
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- Publication type:
- Article
Local Inhibition of PERK Enhances Memory and Reverses Age-Related Deterioration of Cognitive and Neuronal Properties.
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- Journal of Neuroscience, 2018, v. 38, n. 3, p. 648, doi. 10.1523/JNEUROSCI.0628-17.2017
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- Publication type:
- Article
Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3).
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- Journal of Neuroscience, 2016, v. 36, n. 37, p. 9669, doi. 10.1523/JNEUROSCI.1635-16.2016
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- Article
An EEG Investigation of Sleep Homeostasis in Healthy and CLN5 Batten Disease Affected Sheep.
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- Journal of Neuroscience, 2016, v. 36, n. 31, p. 8238, doi. 10.1523/JNEUROSCI.4295-15.2016
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- Article
Synaptic Connectivity between Renshaw Cells and Motoneurons in the Recurrent Inhibitory Circuit of the Spinal Cord.
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- Journal of Neuroscience, 2015, v. 35, n. 40, p. 13673, doi. 10.1523/JNEUROSCI.2541-15.2015
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- Publication type:
- Article
An Anti-Neuroinflammatory That Targets Dysregulated Glia Enhances the Efficacy of CNS-Directed Gene Therapy in Murine Infantile Neuronal Ceroid Lipofuscinosis.
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- Journal of Neuroscience, 2014, v. 34, n. 39, p. 13077, doi. 10.1523/JNEUROSCI.2518-14.2014
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- Article
Depletion of Perineuronal Nets in the Amygdala to Enhance the Erasure of Drug Memories.
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- Journal of Neuroscience, 2014, v. 34, n. 19, p. 6647, doi. 10.1523/JNEUROSCI.5390-13.2014
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- Article
CLN3 Loss Disturbs Membrane Microdomain Properties and Protein Transport in Brain Endothelial Cells.
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- Journal of Neuroscience, 2013, v. 33, n. 46, p. 18065, doi. 10.1523/JNEUROSCI.0498-13.2013
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- Article
Lysosomal Membrane Permeability Stimulates Protein Aggregate Formation in Neurons of a Lysosomal Disease.
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- Journal of Neuroscience, 2013, v. 33, n. 26, p. 10815, doi. 10.1523/JNEUROSCI.0987-13.2013
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- Article
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.
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- EMBO Journal, 2000, v. 19, n. 12, p. 2786, doi. 10.1093/emboj/19.12.2786
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- Article
Red flags for neuronal ceroid lipofuscinosis type 2 disease.
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- Developmental Medicine & Child Neurology, 2020, v. 62, n. 4, p. 414, doi. 10.1111/dmcn.14389
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- Article
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
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- 2020
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- Publication type:
- journal article
Red flags for neuronal ceroid lipofuscinosis type 2 disease.
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- 2019
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- Publication type:
- journal article
The value of a comprehensive natural history in late infantile CLN5 disease.
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- 2017
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- Publication type:
- journal article
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.
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- 2017
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- Publication type:
- journal article
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.
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- Developmental Medicine & Child Neurology, 2015, v. 57, n. 4, p. 366, doi. 10.1111/dmcn.12634
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- Article
Juvenile neuronal ceroid lipofuscinoses ( CLN3 Batten disease): what kind of epilepsy?
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- Developmental Medicine & Child Neurology, 2015, v. 57, n. 4, p. 312, doi. 10.1111/dmcn.12673
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- Article
Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis.
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 7, p. 663, doi. 10.1111/j.1469-8749.2011.04170.x
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- Publication type:
- Article
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
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- Developmental Medicine & Child Neurology, 2010, v. 52, n. 7, p. 637, doi. 10.1111/j.1469-8749.2010.03628.x
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- Publication type:
- Article
Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis.
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- Developmental Medicine & Child Neurology, 2006, v. 48, n. 4, p. 259, doi. 10.1017/S0012162206000570
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- Publication type:
- Article
A Comparative Study of Artificial Ceroid/Lipofuscin from Different Tissue Materials of Rats.
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- Experimental Aging Research, 2008, v. 34, n. 3, p. 282, doi. 10.1080/03610730802070282
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- Publication type:
- Article
Elevated expression of S100B and RAGE positively correlates with pro-inflammatory cytokine production that may contributie to rapid neurodegeneration in INCL.
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- FASEB Journal, 2007, v. 21, n. 6, p. A989, doi. 10.1096/fasebj.21.6.a989
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- Article
The Drosophila Palmitoyl Protein Thioesterase 1, a homologue of the Batten Disease PPT1 gene, is required for normal embryonic neural development.
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- FASEB Journal, 2007, v. 21, n. 6, p. A987, doi. 10.1096/fasebj.21.6.a987-d
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- Publication type:
- Article
Proteolytic degradation of glutamate decarboxylase mediates disinhibition of hippocampal CA3 pyramidal cells in cathepsin D-deficient mice.
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- Journal of Neurochemistry, 2005, v. 94, n. 3, p. 680, doi. 10.1111/j.1471-4159.2005.03250.x
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- Article
Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein.
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- Journal of Neurochemistry, 2003, v. 87, n. 5, p. 1296, doi. 10.1046/j.1471-4159.2003.02132.x
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- Publication type:
- Article
Analysis of phospholipid molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry.
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- Journal of Neurochemistry, 2003, v. 84, n. 5, p. 1051, doi. 10.1046/j.1471-4159.2003.01602.x
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- Article