Works matching Neuronal ceroid-lipofuscinosis
Results: 1064
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
Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses.
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- Neurology India, 2012, v. 60, n. 3, p. 316, doi. 10.4103/0028-3886.98524
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- Article
A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis.
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- Journal of Child Neurology, 2013, v. 28, n. 9, p. 1112, doi. 10.1177/0883073813494812
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- Article
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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- Article
Biochemical Characterization of a Lysosomal Protease Deficient in Classical Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) and Development of an Enzyme-Based Assay for Diagnosis and Exclusion of LINCL in HUman Specimens and Animal Models.
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- Journal of Neurochemistry, 1999, v. 73, n. 2, p. 700, doi. 10.1046/j.1471-4159.1999.0730700.x
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- Article
Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy.
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- Neuro-Ophthalmology, 2008, v. 32, n. 4, p. 210, doi. 10.1080/01658100802266982
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- Article
Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.
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- European Journal of Neurology, 2007, v. 14, n. 4, p. 369, doi. 10.1111/j.1468-1331.2007.01668.x
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- Article
Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.
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- 2018
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- journal article
Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis.
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- 2013
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- Case Study
Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis.
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- Journal of Neurochemistry, 2008, v. 106, n. 3, p. 1415, doi. 10.1111/j.1471-4159.2008.05497.x
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- Article
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
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- Clinical Genetics, 2005, v. 68, n. 2, p. 167, doi. 10.1111/j.1399-0004.2005.00471.x
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- Article
Lipofuscinosis neuronal ceroidea tipo 2 (CLN2): primer caso diagnosticado en Panamá, causado por una variante patogénica del gen TPP1 producida por una mutación sin sentido.
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- 2023
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- Publication type:
- Case Study
Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2.
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- Journal of Child Neurology, 2020, v. 35, n. 5, p. 348, doi. 10.1177/0883073819895694
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- Article
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
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- 2018
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- Case Study
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
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- 2018
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- Case Study
Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2.
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- Journal of Child Neurology, 2016, v. 31, n. 13, p. 1475, doi. 10.1177/0883073816658659
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- Article
RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis
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- FEBS Letters, 2008, v. 582, n. 27, p. 3823, doi. 10.1016/j.febslet.2008.10.015
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- Article
Geç infantil næronal seroid lipofusinoz: Bir olgu sunumu.
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- Türk Pediatri Arşivi, 2010, v. 45, n. 2, p. 155, doi. 10.4274/Turk Ped Ars.45.155
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- Article
Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1116, doi. 10.1002/mdc3.13562
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- Article
Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.807515
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- Article
Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis.
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- Neuropathology & Applied Neurobiology, 2006, v. 32, n. 5, p. 469, doi. 10.1111/j.1365-2990.2006.00738.x
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- Article
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01039-5
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- Article
A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.
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- BMC Veterinary Research, 2014, v. 10, n. 1, p. 1, doi. 10.1186/s12917-014-0181-z
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- Article
Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience.
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- Journal of Personalized Medicine, 2024, v. 14, n. 8, p. 783, doi. 10.3390/jpm14080783
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- Article
Treatment of the Ppt1–/– Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis With the N-methyl-d-aspartate (NMDA) Receptor Antagonist Memantine.
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- Journal of Child Neurology, 2013, v. 28, n. 9, p. 1159, doi. 10.1177/0883073813494480
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- Article
Regional Brain Atrophy in Mouse Models of Neuronal Ceroid Lipofuscinosis: A New Rostrocaudal Perspective.
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- Journal of Child Neurology, 2013, v. 28, n. 9, p. 1117, doi. 10.1177/0883073813494479
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- Article
A Novel c.776_777insA Mutation in CLN1 Leads to Infantile Neuronal Ceroid Lipofuscinosis.
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- Journal of Child Neurology, 2013, v. 28, n. 9, p. 1106, doi. 10.1177/0883073813494267
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- Article
Seizure Susceptibility, Phenotype, and Resultant Growth Delay in the nclf and mnd Mouse Models of Neuronal Ceroid Lipofuscinoses.
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- Journal of Child Neurology, 2013, v. 28, n. 9, p. 1137, doi. 10.1177/0883073813493667
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- Article
Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population.
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- Journal of Child Neurology, 2011, v. 26, n. 5, p. 625, doi. 10.1177/0883073810387298
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- Article
Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2/Jansky- Bielschowsky Type) in Oman.
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- Journal of Child Neurology, 2007, v. 22, n. 5, p. 555, doi. 10.1177/0883073807302613
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- Article
Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.
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- Autophagy, 2023, v. 19, n. 1, p. 204, doi. 10.1080/15548627.2022.2065618
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- Article
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1083, doi. 10.1093/brain/awt020
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- Article
In response: Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening.
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- Epilepsia (Series 4), 2023, v. 64, n. 8, p. 2216, doi. 10.1111/epi.17620
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- Article
Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.
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- Epilepsia (Series 4), 2017, v. 58, n. 8, p. 1380, doi. 10.1111/epi.13820
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- Article
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
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
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
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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- 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
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
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1228
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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
Neuronal Ceroid Lipofuscinoses in Children.
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- Annals of Indian Academy of Neurology, 2021, v. 24, n. 2, p. 192, doi. 10.4103/aian.AIAN_61_20
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- Article
Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications.
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- Pakistan Journal of Medical Sciences, 2024, v. 40, n. 8, p. 1638, doi. 10.12669/pjms.40.8.8006
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- Article
Lipofuscinoza ceroidă neuronală: particularități de diagnostic.
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- Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2018, v. 24, n. 1, p. 59
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- Article
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.
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- Cells (2073-4409), 2018, v. 7, n. 11, p. 188, doi. 10.3390/cells7110188
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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
Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation.
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- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.829573
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- Article
Neuronal Ceroid Lipofuscinosis in a Mallard Duck (Anas platyrhynchos).
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- Journal of Avian Medicine & Surgery, 2012, v. 26, n. 1, p. 22, doi. 10.1647/2010-045.1
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- Article