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1989 2
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Progranulin as a therapeutic target in neurodegenerative diseases.
Rhinn H, Tatton N, McCaughey S, Kurnellas M, Rosenthal A. Rhinn H, et al. Trends Pharmacol Sci. 2022 Aug;43(8):641-652. doi: 10.1016/j.tips.2021.11.015. Epub 2022 Jan 15. Trends Pharmacol Sci. 2022. PMID: 35039149 Free article. Review.
It regulates lysosomal biogenesis, inflammation, repair, stress response, and aging. GRN loss-of-function mutations cause neuronal ceroid lipofuscinosis or frontotemporal dementia-GRN (FTD-GRN) in a gene dosage-dependent manner. ...
It regulates lysosomal biogenesis, inflammation, repair, stress response, and aging. GRN loss-of-function mutations cause neuronal
Juvenile neuronal ceroid lipofuscinosis and education.
von Tetzchner S, Fosse P, Elmerskog B. von Tetzchner S, et al. Biochim Biophys Acta. 2013 Nov;1832(11):1894-905. doi: 10.1016/j.bbadis.2013.02.017. Epub 2013 Mar 5. Biochim Biophys Acta. 2013. PMID: 23470553 Free article. Review.
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emoti …
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4- …
Experimental gene therapies for the NCLs.
Liu W, Kleine-Holthaus SM, Herranz-Martin S, Aristorena M, Mole SE, Smith AJ, Ali RR, Rahim AA. Liu W, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165772. doi: 10.1016/j.bbadis.2020.165772. Epub 2020 Mar 24. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32220628 Free article. Review.
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerative diseases predominantly affecting children. All NCLs are lethal and incurable and only one has an approved treatment available. To date, 13 …
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerativ …
The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research.
Huber RJ, Hughes SM, Liu W, Morgan A, Tuxworth RI, Russell C. Huber RJ, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165614. doi: 10.1016/j.bbadis.2019.165614. Epub 2019 Nov 26. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31783156 Free article. Review.
The NCLs (neuronal ceroid lipofuscinosis) are forms of neurodegenerative disease that affect people of all ages and ethnicities but are most prevalent in children. Commonly known as Batten disease, this debilitating neurological disorder is comprised of 13 di …
The NCLs (neuronal ceroid lipofuscinosis) are forms of neurodegenerative disease that affect people of all ages and eth …
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
Cotman SL, Karaa A, Staropoli JF, Sims KB. Cotman SL, et al. Curr Neurol Neurosci Rep. 2013 Aug;13(8):366. doi: 10.1007/s11910-013-0366-z. Curr Neurol Neurosci Rep. 2013. PMID: 23775425 Free PMC article. Review.
Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refers to a group of disorders mostly diagnosed in the childhood years that involve the accumulation of lysosomal storage material with character
Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refer
The neuronal ceroid lipofuscinoses.
Dyken PR. Dyken PR. J Child Neurol. 1989 Jul;4(3):165-74. doi: 10.1177/088307388900400302. J Child Neurol. 1989. PMID: 2671115 Review.
The neuronal ceroid lipofuscinoses are clinical disorders associated with the accumulation of autofluorescent waxy pigments within cells of several different tissues. ...At present, each of the neuronal ceroid lipofuscinosis types are of …
The neuronal ceroid lipofuscinoses are clinical disorders associated with the accumulation of autofluorescent waxy pigm …
[Neuronal ceroid lipofuscinoses].
Augestad LB, Diderichsen J. Augestad LB, et al. Tidsskr Nor Laegeforen. 2006 Aug 10;126(15):1908-10. Tidsskr Nor Laegeforen. 2006. PMID: 16915312 Free article. Review. Norwegian.
BACKGROUND: Neuronal ceroid lipofuscinoses (NCL) is a group of degenerative neurological diseases. The diseases are autosomally recessively inherited and are characterized by the accumulation of fluorescent ceroid and lipofuscin in neuronal cell …
BACKGROUND: Neuronal ceroid lipofuscinoses (NCL) is a group of degenerative neurological diseases. The diseases are aut …
Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity.
Rietdorf K, Coode EE, Schulz A, Wibbeler E, Bootman MD, Ostergaard JR. Rietdorf K, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165643. doi: 10.1016/j.bbadis.2019.165643. Epub 2019 Dec 19. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31863828 Free article. Review.
The neuronal ceroid lipofuscinoses (NCLs) are mostly seen as diseases affecting the central nervous system, but there is accumulating evidence that they have co-morbidities outside the brain. ...In addition, we present evidence of structural changes that were …
The neuronal ceroid lipofuscinoses (NCLs) are mostly seen as diseases affecting the central nervous system, but there i …
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.
Katz ML, Rustad E, Robinson GO, Whiting REH, Student JT, Coates JR, Narfstrom K. Katz ML, et al. Neurobiol Dis. 2017 Dec;108:277-287. doi: 10.1016/j.nbd.2017.08.017. Epub 2017 Aug 30. Neurobiol Dis. 2017. PMID: 28860089 Free PMC article. Review.
The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most forms having a childhood onset of clinical signs. ...Evidence of NCL has been documented in over 20 canine breeds and in mixed-breed dogs. To …
The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most f …
Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.
Zhong N. Zhong N. Mol Genet Metab. 2000 Sep-Oct;71(1-2):195-206. doi: 10.1006/mgme.2000.3057. Mol Genet Metab. 2000. PMID: 11001811 Review.
The neuronal ceroid lipofuscinoses (NCLs) consist of eight autosomal recessively inherited storage disorders characterized by lysosomal inclusions of autofluorescent lipofuscins and rapid neurodegenerative progression. ...The genes CLN(1) and CLN(2) have been …
The neuronal ceroid lipofuscinoses (NCLs) consist of eight autosomal recessively inherited storage disorders characteri …
31 results