Works matching DE "NEURONAL ceroid-lipofuscinosis"
Results: 603
Lipofuscinosis neuronal ceroidea infantil tardía: Reporte de un caso.
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- Revista Mexicana de Neurociencia, 2013, v. 14, n. 1, p. 44
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- Article
Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.
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- Documenta Ophthalmologica, 2023, v. 146, n. 3, p. 241, doi. 10.1007/s10633-023-09930-1
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- Article
Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report.
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- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 99, doi. 10.1007/s10633-021-09825-z
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- Article
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
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- Documenta Ophthalmologica, 2019, v. 138, n. 1, p. 55, doi. 10.1007/s10633-018-9665-7
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- Article
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis (Communicated by Elizabeth F. Neufeld) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/22/v22.35.html)
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- Human Mutation, 2003, v. 22, n. 1, p. 35, doi. 10.1002/humu.10227
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Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis (Communicated by Mark H. Paalman).
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- Human Mutation, 2003, v. 21, n. 5, p. 502, doi. 10.1002/humu.10207
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Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination.
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- Acta Neuropathologica, 2023, v. 146, n. 1, p. 97, doi. 10.1007/s00401-023-02578-w
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- Article
SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.
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- Acta Neuropathologica, 2023, v. 146, n. 2, p. 337, doi. 10.1007/s00401-023-02582-0
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Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
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- Acta Neuropathologica, 2019, v. 137, n. 1, p. 71, doi. 10.1007/s00401-018-1925-9
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The lysosomal function of progranulin, a guardian against neurodegeneration.
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- Acta Neuropathologica, 2018, v. 136, n. 1, p. 1, doi. 10.1007/s00401-018-1861-8
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Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
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- Acta Neuropathologica, 2016, v. 131, n. 4, p. 621, doi. 10.1007/s00401-015-1512-2
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- Article
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis.
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- Acta Neuropathologica, 2014, v. 127, n. 6, p. 845, doi. 10.1007/s00401-014-1262-6
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- Article
An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation.
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- Caspian Journal of Neurological Sciences, 2023, v. 9, n. 1, p. 50, doi. 10.32598/CJNS.9.32.232.5
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- Article
Adult-onset deletion of ATP13A2 in mice induces progressive nigrostriatal pathway dopaminergic degeneration and lysosomal abnormalities.
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- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00748-5
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CLN5 neuronal ceroid lipofuscinosis (NCL): from analytical chemistry to clinical neuroscience.
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- Chemistry in New Zealand, 2023, v. 87, n. 1, p. 44
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PACAP in the BNST Produces Anorexia and Weight Loss in Male and Female Rats.
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- Neuropsychopharmacology, 2014, v. 39, n. 7, p. 1614, doi. 10.1038/npp.2014.8
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Proteomic analysis of blood serum in bipolar disorder.
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- 2024
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- Abstract
Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin.
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- Journal of Cell Biology, 2015, v. 210, n. 6, p. 991, doi. 10.1083/jcb.201502029
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Batten's disease: Determining educational interventions.
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- Intervention in School & Clinic, 1996, v. 31, n. 5, p. 303, doi. 10.1177/105345129603100508
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Batten disease: a rare case report and review of literature.
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- 2016
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- Case Study
Rana dijagnoza neuronske ceroidne lipofuscinoze tip 2 - mit ili stvarnost?
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- Paediatria Croatica, 2021, v. 65, n. 3, p. 223, doi. 10.13112/pc.385
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- Article
Rana dijagnoza neuronske* ceroidne lipofuscinoze tip 2 - mit ili stvarnost?
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- Paediatria Croatica, 2020, v. 64, n. 4, p. 223, doi. 10.13112/pc.401
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- Article
Neuronska ceroidna lipofuscinoza -- najčešća neurodegenrativna bolest u djetinjstvu.
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- Paediatria Croatica, 2020, v. 64, n. 4, p. 213, doi. 10.13112/pc.400
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- Article
Izazovi i mogućnosti selektivne laboratorijske dijagnostike neuronske ceroidne lipofuscinoze tipa 1 i 2 u Republici Hrvatskoj.
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- Paediatria Croatica, 2020, v. 64, n. 4, p. 277, doi. 10.13112/pc.407
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- Article
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
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00370
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- Article
Autofluorescence and Infrared Retinal Imaging in patients and obligate carriers with Neuronal Ceroid Lipofuscinosis.
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- Ophthalmic Genetics, 2009, v. 30, n. 4, p. 190, doi. 10.3109/13816810903258829
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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
Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6.
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- Genes, 2024, v. 15, n. 6, p. 661, doi. 10.3390/genes15060661
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- Article
Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.
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- Genes, 2024, v. 15, n. 2, p. 246, doi. 10.3390/genes15020246
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- Article
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
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- Genes, 2023, v. 14, n. 2, p. 245, doi. 10.3390/genes14020245
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CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report.
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- Genes, 2021, v. 12, n. 7, p. 956, doi. 10.3390/genes12070956
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Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN).
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-023-09515-8
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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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A recessive CLN3 variant is responsible for delayed-onset retinal degeneration in Hereford cattle.
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- Journal of Veterinary Diagnostic Investigation, 2024, v. 36, n. 3, p. 438, doi. 10.1177/10406387241239918
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- Article
Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan.
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- Journal of Veterinary Diagnostic Investigation, 2011, v. 23, n. 6, p. 1131, doi. 10.1177/1040638711425590
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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
CSPα-Chaperoning Presynaptic Proteins Mini Review Article.
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- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00116
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- Article
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03448-8
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- Article
Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH).
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03336-1
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- Article
Loss of Depalmitoylation Disrupts Homeostatic Plasticity of AMPARs in a Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis.
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- Journal of Neuroscience, 2023, v. 43, n. 49, p. 8317, doi. 10.1523/JNEUROSCI.1113-23.2023
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Activation of PPARα Exhibits Therapeutic Efficacy in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.
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- Journal of Neuroscience, 2023, v. 43, n. 10, p. 1814, doi. 10.1523/JNEUROSCI.2447-21.2023
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This Week in The Journal.
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- Journal of Neuroscience, 2023, v. 43, n. 10, p. 1657, doi. 10.1523/JNEUROSCI.twij.43.10.2023
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- 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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Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 10, p. 5729, doi. 10.3390/ijms23105729
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- Article
Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 10, p. 5586, doi. 10.3390/ijms23105586
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A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2271, doi. 10.3390/ijms23042271
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- Article
Retinal Degeneration and Microglial Dynamics in Mature Progranulin-Deficient Mice.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 11557, doi. 10.3390/ijms222111557
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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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Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 625, doi. 10.3390/ijms19020625
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- Article