Works matching DE "NEURONAL ceroid-lipofuscinosis"
Results: 610
Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.941
- By:
- Publication type:
- Article
Anesthesia management in neuronal ceroid lipofuscinoses.
- Published in:
- 2006
- By:
- Publication type:
- Letter
A Murine Model of Infantile Neuronal Ceroid Lipofuscinosis--Ultrastructural Evaluation of Storage in the Central Nervous System and Viscera.
- Published in:
- Pediatric & Developmental Pathology, 2008, v. 11, n. 3, p. 185, doi. 10.2350/07-03-0242.1
- By:
- Publication type:
- Article
SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.
- Published in:
- Acta Neuropathologica, 2023, v. 146, n. 2, p. 337, doi. 10.1007/s00401-023-02582-0
- By:
- Publication type:
- Article
Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination.
- Published in:
- Acta Neuropathologica, 2023, v. 146, n. 1, p. 97, doi. 10.1007/s00401-023-02578-w
- By:
- Publication type:
- Article
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 1, p. 71, doi. 10.1007/s00401-018-1925-9
- By:
- Publication type:
- Article
The lysosomal function of progranulin, a guardian against neurodegeneration.
- Published in:
- Acta Neuropathologica, 2018, v. 136, n. 1, p. 1, doi. 10.1007/s00401-018-1861-8
- By:
- Publication type:
- Article
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
- Published in:
- Acta Neuropathologica, 2016, v. 131, n. 4, p. 621, doi. 10.1007/s00401-015-1512-2
- By:
- Publication type:
- Article
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis.
- Published in:
- Acta Neuropathologica, 2014, v. 127, n. 6, p. 845, doi. 10.1007/s00401-014-1262-6
- By:
- Publication type:
- Article
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses.
- Published in:
- Acta Neuropathologica, 2006, v. 111, n. 2, p. 168, doi. 10.1007/s00401-005-0024-x
- By:
- Publication type:
- Article
Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment.
- Published in:
- Acta Neuropathologica, 2004, v. 108, n. 5, p. 386, doi. 10.1007/s00401-004-0902-7
- By:
- Publication type:
- Article
Neuronal ceroid lipofuscinosis: late infantile or Janský Bielschowsky type – re-revisited.
- Published in:
- Acta Neuropathologica, 2001, v. 102, n. 5, p. 485, doi. 10.1007/s004010100403
- By:
- Publication type:
- Article
Equine neuronal ceroid lipofuscinosis.
- Published in:
- Acta Neuropathologica, 2001, v. 101, n. 4, p. 410, doi. 10.1007/s004010000298
- By:
- Publication type:
- Article
Pathological and Phytochemical Investigation of Neuronal Lipofuscinosis Caused by Asphodelus aestivus in Sheep: I. Pathological Findings.
- Published in:
- Turkish Journal of Veterinary & Animal Sciences, 2005, v. 29, n. 6, p. 1351
- By:
- Publication type:
- Article
CLN5 neuronal ceroid lipofuscinosis (NCL): from analytical chemistry to clinical neuroscience.
- Published in:
- Chemistry in New Zealand, 2023, v. 87, n. 1, p. 44
- By:
- Publication type:
- Article
Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1116, doi. 10.1002/mdc3.13562
- By:
- Publication type:
- Article
Lysosomal Storage Disorders and Parkinson's Disease: New Susceptibility Loci Identified.
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 4, p. 404, doi. 10.1002/mdc3.12625
- By:
- Publication type:
- Article
Psychometric Validation of the CLN2 Quality of Life Questionnaire in Participants with CLN2 Disease Treated with Cerliponase Alfa.
- Published in:
- Healthcare (2227-9032), 2024, v. 12, n. 22, p. 2229, doi. 10.3390/healthcare12222229
- By:
- Publication type:
- Article
Characterization of Candidate Genes for Neuronal Ceroid Lipofuscinosis in Dog.
- Published in:
- Journal of Heredity, 2005, v. 96, n. 7, p. 735, doi. 10.1093/jhered/esi088
- By:
- Publication type:
- Article
PP19 Health Technology Assessment Reports In Brazilian Unified Health System: Number Of Potential Beneficiaries in 2022.
- Published in:
- International Journal of Technology Assessment in Health Care, 2023, v. 39, p. S57, doi. 10.1017/S0266462323001769
- By:
- Publication type:
- Article
VP175 Validating Outcome Assessments For Health Technology Assessment In Ceroid Lipofuscinosis Neuronal 2 (CLN2), An Ultra-Rare Disease.
- Published in:
- 2017
- By:
- Publication type:
- Abstract
Rana dijagnoza neuronske ceroidne lipofuscinoze tip 2 - mit ili stvarnost?
- Published in:
- Paediatria Croatica, 2021, v. 65, n. 3, p. 223, doi. 10.13112/pc.385
- By:
- Publication type:
- Article
Neuronska ceroidna lipofuscinoza -- najčešća neurodegenrativna bolest u djetinjstvu.
- Published in:
- Paediatria Croatica, 2020, v. 64, n. 4, p. 213, doi. 10.13112/pc.400
- By:
- Publication type:
- Article
Rana dijagnoza neuronske* ceroidne lipofuscinoze tip 2 - mit ili stvarnost?
- Published in:
- Paediatria Croatica, 2020, v. 64, n. 4, p. 223, doi. 10.13112/pc.401
- By:
- Publication type:
- Article
Izazovi i mogućnosti selektivne laboratorijske dijagnostike neuronske ceroidne lipofuscinoze tipa 1 i 2 u Republici Hrvatskoj.
- Published in:
- Paediatria Croatica, 2020, v. 64, n. 4, p. 277, doi. 10.13112/pc.407
- By:
- Publication type:
- Article
Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45789-7
- By:
- Publication type:
- Article
Efficacy of dual intracerebroventricular and intravitreal CLN5 gene therapy in sheep prompts the first clinical trial to treat CLN5 Batten disease.
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1212235
- By:
- Publication type:
- Article
Efficacy of dual intracerebroventricular and intravitreal CLN5 gene therapy in sheep prompts the first clinical trial to treat CLN5 Batten disease.
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1212235
- By:
- Publication type:
- Article
Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.937485
- By:
- Publication type:
- Article
Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.807515
- By:
- Publication type:
- Article
A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.746101
- By:
- Publication type:
- Article
Batten disease and perioperative complications: a retrospective descriptive study.
- Published in:
- Journal of Anesthesia, 2020, v. 34, n. 3, p. 342, doi. 10.1007/s00540-020-02747-1
- By:
- Publication type:
- Article
Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan.
- Published in:
- Animals (2076-2615), 2022, v. 12, n. 9, p. N.PAG, doi. 10.3390/ani12091210
- By:
- Publication type:
- Article
Decline in glucose metabolism in the brain in neuronal ceroid lipofuscinosis (NCL) in English setter--evidence by positron emission tomography (PET).
- Published in:
- 1995
- By:
- Publication type:
- journal article
Regional and lobular variation in neuronal lipofuscinosis in rat cerebellum: influence of age and protein malnourishment.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.
- Published in:
- Drugs, 2021, v. 81, n. 1, p. 101, doi. 10.1007/s40265-020-01440-7
- By:
- Publication type:
- Article
Commentary: Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice.
- Published in:
- 2016
- By:
- Publication type:
- Opinion
Alzheimer's Proteins, Oxidative Stress, and Mitochondrial Dysfunction Interplay in a Neuronal Model of Alzheimer's Disease.
- Published in:
- International Journal of Alzheimer's Disease, 2010, v. 2010, p. 1, doi. 10.4061/2010/621870
- By:
- Publication type:
- Article
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis.
- Published in:
- Journal of Biomedical Science, 2016, v. 23, p. 1, doi. 10.1186/s12929-016-0301-0
- By:
- Publication type:
- Article
Using C. elegans to discover therapeutic compounds for ageing-associated neurodegenerative diseases.
- Published in:
- Chemistry Central Journal, 2015, v. 9, p. 1, doi. 10.1186/s13065-015-0143-y
- By:
- Publication type:
- Article
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
- Published in:
- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0255933
- By:
- Publication type:
- Article
Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death.
- Published in:
- PLoS ONE, 2021, v. 16, n. 2, p. 1, doi. 10.1371/journal.pone.0239689
- By:
- Publication type:
- Article
Ablation of Sphingosine 1-Phosphate Receptor Subtype 3 Impairs Hippocampal Neuron Excitability In vitro and Spatial Working Memory In vivo.
- Published in:
- Frontiers in Cellular Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fncel.2016.00258
- By:
- Publication type:
- Article
CSPα-Chaperoning Presynaptic Proteins Mini Review Article.
- Published in:
- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00116
- By:
- Publication type:
- Article
BATTEN DISEASE (CLN2 TYPE) – FIGHTING FOR A STEP, A WORD AND A SMILE; CASE REPORT.
- Published in:
- Lijecnicki Vjesnik, 2023, v. 145, p. 78, doi. 10.26800/LV-145-supl3-4
- By:
- Publication type:
- Article
Rare health conditions 58: amniotic band syndrome, Axenfeld-Rieger syndrome, adult neuronal ceroid lipofuscinosis, Hashimoto's syndrome and pseudomyxoma peritonei.
- Published in:
- British Journal of Healthcare Assistants, 2022, v. 16, n. 5, p. 220, doi. 10.12968/bjha.2022.16.5.220
- By:
- Publication type:
- Article
Rare health conditions 39: Krabbe disease; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (‘CANDLE’); Batten disease; and working with young children.
- Published in:
- British Journal of Healthcare Assistants, 2020, v. 14, n. 9, p. 422, doi. 10.12968/bjha.2020.14.9.422
- By:
- Publication type:
- Article
Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH).
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03336-1
- By:
- Publication type:
- Article
Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses.
- Published in:
- Molecular Neurodegeneration, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0300-6
- By:
- Publication type:
- Article
Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice.
- Published in:
- Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0281-5
- By:
- Publication type:
- Article