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Quoted phrase not found in phrase index: "Cerebral lipidosis with dementia"
Page 1
Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations.
Abeliovich A, Hefti F, Sevigny J. Abeliovich A, et al. J Parkinsons Dis. 2021;11(s2):S183-S188. doi: 10.3233/JPD-212739. J Parkinsons Dis. 2021. PMID: 34151863 Free PMC article. Review.
Deficiency in the GBA1 encoded enzyme glucocerebrosidase (GCase) leads to the accumulation of the GCase glycolipid substrates glucosylceramide and glucosylsphingosine and ultimately results in toxicity and inflammation and negatively affect many clinical aspects of Parkinson's di …
Deficiency in the GBA1 encoded enzyme glucocerebrosidase (GCase) leads to the accumulation of the GCase glycolipid substrates glucosylcerami …
Glucocerebrosidase as a therapeutic target for Parkinson's disease.
Chen Y, Sam R, Sharma P, Chen L, Do J, Sidransky E. Chen Y, et al. Expert Opin Ther Targets. 2020 Apr;24(4):287-294. doi: 10.1080/14728222.2020.1733970. Epub 2020 Feb 27. Expert Opin Ther Targets. 2020. PMID: 32106725 Free PMC article. Review.
Currently, mutations in glucocerebrosidase (GBA1) are the most common genetic risk factor for Parkinson's disease and dementia with Lewy bodies, with an inverse relationship between glucocerebrosidase and alpha-synuclein, a key factor in Parkinson pathogenesis. The hypothe …
Currently, mutations in glucocerebrosidase (GBA1) are the most common genetic risk factor for Parkinson's disease and dementia with L …
Pharmacological approaches to tackle NCLs.
Kauss V, Dambrova M, Medina DL. Kauss V, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165553. doi: 10.1016/j.bbadis.2019.165553. Epub 2019 Sep 12. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31521819 Free article. Review.
They are characterized by the accumulation of lysosomal storage material and progressive neurological deterioration with dementia, epilepsy, retinopathy, motor disturbances, and early death [1]. ...Current therapeutic strategies include enzyme replacement therapies, gene t …
They are characterized by the accumulation of lysosomal storage material and progressive neurological deterioration with dementia, ep …
Genetic susceptibility to ischemic stroke.
Meschia JF, Worrall BB, Rich SS. Meschia JF, et al. Nat Rev Neurol. 2011 May 31;7(7):369-78. doi: 10.1038/nrneurol.2011.80. Nat Rev Neurol. 2011. PMID: 21629240 Free PMC article. Review.
Clinicians who treat patients with stroke need to be aware of several single-gene disorders that have ischemic stroke as a major feature, including sickle cell disease, Fabry disease, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopath …
Clinicians who treat patients with stroke need to be aware of several single-gene disorders that have ischemic stroke as a major feature, in …
The neuronal ceroid-lipofuscinoses.
Goebel HH. Goebel HH. Semin Pediatr Neurol. 1996 Dec;3(4):270-8. doi: 10.1016/s1071-9091(96)80031-3. Semin Pediatr Neurol. 1996. PMID: 8969009 Review.
Within the clinical pentad are included seizures, motor disturbances, visual impairment, dementia, and familial occurrence in an autosomal-recessive fashion. ...
Within the clinical pentad are included seizures, motor disturbances, visual impairment, dementia, and familial occurrence in an auto …
Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses.
Gammaldi N, Pezzini F, Michelucci E, Di Giorgi N, Simonati A, Rocchiccioli S, Santorelli FM, Doccini S. Gammaldi N, et al. Neurobiol Dis. 2023 Dec;189:106349. doi: 10.1016/j.nbd.2023.106349. Epub 2023 Nov 11. Neurobiol Dis. 2023. PMID: 37952681 Free article. Review.
Moreover, we selected a pool of differentially expressed proteins and genes as species- and form-related biomarkers of disease status/progression and evaluated local and spatial differences in most affected brain regions. Our results offer promising targets for potential n …
Moreover, we selected a pool of differentially expressed proteins and genes as species- and form-related biomarkers of disease status/progre …
Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.
Furderer ML, Hertz E, Lopez GJ, Sidransky E. Furderer ML, et al. Int J Mol Sci. 2022 May 23;23(10):5842. doi: 10.3390/ijms23105842. Int J Mol Sci. 2022. PMID: 35628652 Free PMC article. Review.
GD affects astrocytes, and, in neuronopathic GD, neurons in cerebral cortical layers 3 and 5, layer 4b of the calcarine cortex, and hippocampal regions CA2-4. ...
GD affects astrocytes, and, in neuronopathic GD, neurons in cerebral cortical layers 3 and 5, layer 4b of the calcarine cortex, and h …
How to diagnose difficult white matter disorders.
Williams T, Houlden H, Murphy E, John N, Fox NC, Schott JM, Adams M, Davagananam I, Chataway J, Lynch DS. Williams T, et al. Pract Neurol. 2020 Aug;20(4):280-286. doi: 10.1136/practneurol-2020-002530. Epub 2020 May 20. Pract Neurol. 2020. PMID: 32434903 Review.
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.
Kohlschütter A, Schulz A, Bartsch U, Storch S. Kohlschütter A, et al. CNS Drugs. 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8. CNS Drugs. 2019. PMID: 30877620 Free PMC article. Review.
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal storage disorders caused by mutations in at least 13 different genes and primarily affect the brain and the retina of children or young adults. The disorders are characterized by progressive …
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal storage disorders caused by mutations in at least 13 diff …
Cholesterol in Alzheimer's disease and tauopathy.
Burns M, Duff K. Burns M, et al. Ann N Y Acad Sci. 2002 Nov;977:367-75. doi: 10.1111/j.1749-6632.2002.tb04839.x. Ann N Y Acad Sci. 2002. PMID: 12480774 Review.
Clinically, Niemann-Pick disease causes a severe childhood lipidosis, with neurodegeneration characterized by the presence of AD-type neurofibrillary tangles (NFTs) composed of hyperphosphorylated tau. ...
Clinically, Niemann-Pick disease causes a severe childhood lipidosis, with neurodegeneration characterized by the presence of AD-type …
75 results