Works matching Batten disease
Results: 365
Altered Flurothyl Seizure Induction Latency, Phenotype, and Subsequent Mortality in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis/Batten Disease.
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- Epilepsia (Series 4), 2002, v. 43, n. 10, p. 1137, doi. 10.1046/j.1528-1157.2002.16002.x
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- Article
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
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- 2018
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- journal article
Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease).
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- Journal of Child Neurology, 2016, v. 31, n. 4, p. 481, doi. 10.1177/0883073815600863
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N-acetylcysteine normalizes the urea cycle and DNA repair in cells from patients with Batten disease.
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- Cell Biochemistry & Function, 2012, v. 30, n. 8, p. 677, doi. 10.1002/cbf.2849
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- Article
Batten disease and perioperative complications: a retrospective descriptive study.
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- Journal of Anesthesia, 2020, v. 34, n. 3, p. 342, doi. 10.1007/s00540-020-02747-1
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- Article
Recent Biochemical and Genetic Advances in Our Understanding of Batten's Disease (Ceroid-Lipofuscinosis).
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- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 339, doi. 10.1159/000112183
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Diagnosis of Neuronal Ceroid Lipofuscinosis (Batten Disease) by Electron Microscopy in Peripheral Blood Specimens.
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- Ultrastructural Pathology, 2006, v. 30, n. 5, p. 373, doi. 10.1080/01913120500406566
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- Article
Caspase 1 activity influences juvenile Batten disease (CLN3) pathogenesis.
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- Journal of Neurochemistry, 2019, v. 148, n. 5, p. 652, doi. 10.1111/jnc.14480
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- Article
Considerations for the Treatment of Infantile Neuronal Ceroid Lipofuscinosis (Infantile Batten Disease).
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- Journal of Child Neurology, 2013, v. 28, n. 9, p. 1151, doi. 10.1177/0883073813495960
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- Article
Large Animal Models for Batten Disease: A Review.
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- Journal of Child Neurology, 2013, v. 28, n. 9, p. 1123, doi. 10.1177/0883073813493666
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- Article
Molecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady.
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- Biology Direct, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13062-018-0212-y
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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
The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease.
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- Acta Neuropathologica, 1972, v. 21, n. 2, p. 169, doi. 10.1007/BF00687571
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- Article
Comparative analysis of the gut microbiota composition in the Cln1R151X and Cln2R207X mouse models of Batten disease and in three wild-type mouse strains.
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- Archives of Microbiology, 2021, v. 203, n. 1, p. 85, doi. 10.1007/s00203-020-02007-6
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Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease.
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- Cells (2073-4409), 2023, v. 12, n. 11, p. 1497, doi. 10.3390/cells12111497
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Extracellular Vesicles as Drug Carriers for Enzyme Replacement Therapy to Treat CLN2 Batten Disease: Optimization of Drug Administration Routes.
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- Cells (2073-4409), 2020, v. 9, n. 5, p. 1273, doi. 10.3390/cells9051273
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- Article
BATTEN DISEASE (CLN2 TYPE) – FIGHTING FOR A STEP, A WORD AND A SMILE; CASE REPORT.
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- Lijecnicki Vjesnik, 2023, v. 145, p. 78, doi. 10.26800/LV-145-supl3-4
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- Article
Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights.
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- Degenerative Neurological & Neuromuscular Disease, 2016, v. 6, p. 73, doi. 10.2147/DNND.S111967
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- Article
The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data
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- FEBS Letters, 2008, v. 582, n. 7, p. 1019, doi. 10.1016/j.febslet.2008.02.049
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- Article
Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8055, doi. 10.3390/ijms21218055
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- Article
Altered arginine metabolism in the central nervous system (CNS) of the Cln3<sup>− /−</sup> mouse model of juvenile Batten disease.
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- Neuropathology & Applied Neurobiology, 2009, v. 35, n. 2, p. 189, doi. 10.1111/j.1365-2990.2008.00984.x
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As Batten Disease Disconnects, Music Therapy Connects: A Case Study.
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- Australian Journal of Music Therapy, 2021, v. 32, n. 2, p. 134
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Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 4, p. 397, doi. 10.1111/aos.14630
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Manganese in manganism, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and Batten disease: A narrative review.
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- 2017
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- journal article
A Knock-In Reporter Model of Batten Disease.
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- Journal of Neuroscience, 2007, v. 27, n. 37, p. 9826, doi. 10.1523/JNEUROSCI.1710-07.2007
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- Article
Neurobehavioral Features and Natural History of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease).
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- Journal of Child Neurology, 2013, v. 28, n. 9, p. 1128, doi. 10.1177/0883073813494813
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Batten Disease: Clinical Aspects, Molecular Mechanisms, Translational Science, and Future Directions.
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- Journal of Child Neurology, 2013, v. 28, n. 9, p. 1074, doi. 10.1177/0883073813493665
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- Article
Neuropsychological Symptoms of Juvenile-Onset Batten Disease: Experiences From 2 Studies.
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- Journal of Child Neurology, 2007, v. 22, n. 5, p. 621, doi. 10.1177/0883073807302603
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Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment.
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- Frontiers in Neuroscience, 2022, p. 1, doi. 10.3389/fnins.2022.834780
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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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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
Cell death pathways in juvenile Batten disease.
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- Apoptosis, 2005, v. 10, n. 5, p. 973, doi. 10.1007/s10495-005-0733-6
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- Article
Lectin histochemistry in brains with juvenile form of neuronal ceroid-lipofuscinosis (Batten disease).
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- Acta Neuropathologica, 1990, v. 80, n. 3, p. 274, doi. 10.1007/BF00294645
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- Article
An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease.
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- Journal of Neurochemistry, 2021, v. 157, n. 3, p. 764, doi. 10.1111/jnc.15285
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- Article
Evaluation of Neurodegeneration in a Mouse Model of Infantile Batten Disease by Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy.
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- Neurodegenerative Diseases, 2012, v. 9, n. 4, p. 159, doi. 10.1159/000334838
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- Article
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
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- Epilepsia (Series 4), 2022, v. 63, n. 7, p. e68, doi. 10.1111/epi.17269
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- Article
CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3−/− mice and in Batten disease.
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- Brain: A Journal of Neurology, 2004, v. 127, n. 8, p. 1748, doi. 10.1093/brain/awh195
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- Article
MORPHOLOGY OF LEUKOCYTIC HYPERGRANULATION IN BATTEN'S DISEASE*.
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- Annals of the New York Academy of Sciences, 1969, v. 155, n. 2, p. 847, doi. 10.1111/j.1749-6632.1969.tb50307.x
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A Legacy For and Beyond Batten Disease.
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- Bio-IT World, 2010, v. 9, n. 2, p. 37
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- Article
The yeast Batten disease orthologue Btn1 controls endosome--Golgi retrograde transport via SNARE assembly.
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- Journal of Cell Biology, 2011, v. 195, n. 2, p. 203, doi. 10.1083/jcb.201102115
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- Article
Changes in motor behavior, neuropathology, and gut microbiota of a Batten disease mouse model following administration of acidified drinking water.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51488-z
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- Article
Leucocyte glutathione peroxidase activity and selenium level in Batten's disease.
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- Scandinavian Journal of Clinical & Laboratory Investigation, 1983, v. 43, n. 3, p. 187, doi. 10.1080/00365518309168243
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- Article
Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells.
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- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1007, doi. 10.1093/hmg/ddm046
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- Article
Defective lysosomal arginine transport in juvenile Batten disease.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3759, doi. 10.1093/hmg/ddi406
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- Article
An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease.
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- Human Molecular Genetics, 2002, v. 11, n. 12, p. 1421, doi. 10.1093/hmg/11.12.1421
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- Article
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease causedby mutations in the CLN3 gene.
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- Ophthalmic Genetics, 2000, v. 21, n. 2, p. 69, doi. 10.1076/1381-6810(200006)21:2;1-8;FT069
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- Article
Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.
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- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132331
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CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase.
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- 2006
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- Journal Article
Molecular neuropathology of the synapse in sheep with CLN5 Batten disease.
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- Brain & Behavior, 2015, v. 5, n. 11, p. 1, doi. 10.1002/brb3.401
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- Article