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Kufs or not Kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.
- Published in:
- EMBO Journal, 2000, v. 19, n. 12, p. 2786, doi. 10.1093/emboj/19.12.2786
- By:
- Publication type:
- Article
Gene Expression Alterations in the Cerebellum and Granule Neurons of <i>Cstb<sup>−/−</sup></i> Mouse Are Associated with Early Synaptic Changes and Inflammation.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089321
- By:
- Publication type:
- Article
High‐resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3.
- Published in:
- Journal of Neuroscience Research, 2004, v. 77, n. 5, p. 762, doi. 10.1002/jnr.20123
- By:
- Publication type:
- Article
Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.
- Published in:
- NeuroMolecular Medicine, 2016, v. 18, n. 1, p. 109, doi. 10.1007/s12017-015-8382-6
- By:
- Publication type:
- Article
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
- Published in:
- 2009
- By:
- Publication type:
- Report
Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study.
- Published in:
- Acta Neuropathologica, 1995, v. 89, n. 5, p. 391, doi. 10.1007/BF00307641
- By:
- Publication type:
- Article
Hippocampal Pathology in the Human Neuronal Ceroid-Lipofuscinoses: Distinct Patterns of Storage Deposition, Neurodegeneration and Glial Activation.
- Published in:
- Brain Pathology, 2004, v. 14, n. 4, p. 349, doi. 10.1111/j.1750-3639.2004.tb00077.x
- By:
- Publication type:
- Article
Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: a Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein Thioesterase 1 Deficiency.
- Published in:
- Brain Pathology, 2003, v. 13, n. 4, p. 574, doi. 10.1111/j.1750-3639.2003.tb00486.x
- By:
- Publication type:
- Article
Northern Epilepsy: A Novel Form of Neuronal Ceroid-Lipofuscinosis.
- Published in:
- Brain Pathology, 2000, v. 10, n. 2, p. 215, doi. 10.1111/j.1750-3639.2000.tb00255.x
- By:
- Publication type:
- Article
Decreased Na<sup>+</sup>-dependent acid/base transport in choroid plexus of NCBE knock-out mice.
- Published in:
- FASEB Journal, 2008, v. 22, p. 180, doi. 10.1096/fasebj.22.2_supplement.180
- By:
- Publication type:
- Article
Murine cathepsin D deficiency is associated with dysmyelination/myelin disruption and accumulation of cholesteryl esters in the brain.
- Published in:
- Journal of Neurochemistry, 2010, v. 112, n. 1, p. 193, doi. 10.1111/j.1471-4159.2009.06440.x
- By:
- Publication type:
- Article
Metabolism of starch synthesis in developing grains of the shx shrunken mutant of barley (Hordeum vulgare).
- Published in:
- Physiologia Plantarum, 1995, v. 93, n. 1, p. 77, doi. 10.1034/j.1399-3054.1995.930112.x
- By:
- Publication type:
- Article
An analysis of soluble starch synthase isozymes from the developing grains of normal and shx cv. Bomi barley (Hordeum vulgare).
- Published in:
- Physiologia Plantarum, 1993, v. 89, n. 4, p. 835, doi. 10.1111/j.1399-3054.1993.tb05293.x
- By:
- Publication type:
- Article
Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo.
- Published in:
- Molecular Brain, 2009, v. 2, p. 1, doi. 10.1186/1756-6606-2-5
- By:
- Publication type:
- Article
Pirkko Santavuori (1933--2004).
- Published in:
- 2004
- By:
- Publication type:
- Obituary
Lysosomal Dysfunction Promotes Cleavage and Neurotoxicity of Tau In Vivo.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 7, p. 1, doi. 10.1371/journal.pgen.1001026
- By:
- Publication type:
- Article
Enhanced activation of bound plasminogen on Staphylococcus aureus by staphylokinase
- Published in:
- FEBS Letters, 2002, v. 517, n. 1-3, p. 72
- By:
- 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.
- Published in:
- Journal of Neurochemistry, 2003, v. 84, n. 5, p. 1051, doi. 10.1046/j.1471-4159.2003.01602.x
- By:
- Publication type:
- Article
PALMITOYL-PROTEIN THIOESTERASE (PPT) EXPRESSION IN DEVELOPING RAT BRAIN.
- Published in:
- 1999
- By:
- Publication type:
- Abstract