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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 3
1989 1
1993 2
1994 1
1995 1
1996 2
1998 2
1999 4
2000 2
2001 4
2003 1
2005 2
2006 2
2007 1
2008 3
2009 2
2010 1
2011 8
2012 4
2013 6
2014 4
2015 2
2017 1
2018 2
2019 3
2022 2
2024 0

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59 results

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Page 1
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 emotional reactions. ...Th …
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developme …
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
Adams HR, Mink JW; University of Rochester Batten Center Study Group. Adams HR, et al. J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813. J Child Neurol. 2013. PMID: 24014508 Free PMC article. Review.
We review the history of neurobehavioral features in juvenile neuronal ceroid lipofuscinosis and the work of the University of Rochester Batten Center to characterize the extent and progression of neurobehavioral symptoms over the disease course, and discuss the relevance …
We review the history of neurobehavioral features in juvenile neuronal ceroid lipofuscinosis and the work of the University of Rochester Bat …
Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype.
Xiong J, Kielian T. Xiong J, et al. J Neurochem. 2013 Oct;127(2):245-58. doi: 10.1111/jnc.12385. Epub 2013 Aug 22. J Neurochem. 2013. PMID: 23919525 Free article.
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessive mutation in CLN3. Regions of microglial activation precede and predict areas of neuronal loss in JNCL; however, the functional role of activated microglia remains …
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessive mutation in CLN3. Regions of …
Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease.
Savvidou A, Jennions E, Wikström S, Olsson-Engman M, Sofou K, Darin N. Savvidou A, et al. Eur J Paediatr Neurol. 2022 Jul;39:74-78. doi: 10.1016/j.ejpn.2022.06.007. Epub 2022 Jun 11. Eur J Paediatr Neurol. 2022. PMID: 35716526 Free article.
Possibly provoking drugs were risperidone, clozapine, olanzapine, haloperidol, quetiapine, and sertraline. The course was atypical, frequently prolonged, associated with rhabdomyolysis and status dystonicus, and resulted in the death of three of the patients. ...
Possibly provoking drugs were risperidone, clozapine, olanzapine, haloperidol, quetiapine, and sertraline. The course was atypical, f …
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R, Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R, Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M. Pérez-Poyato MS, et al. J Inherit Metab Dis. 2011 Oct;34(5):1083-93. doi: 10.1007/s10545-011-9323-7. Epub 2011 Apr 16. J Inherit Metab Dis. 2011. PMID: 21499717
Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecular studies in 24 patients with JNCL collected from 1975 to 2010 with the aim of assessing the natural history of the disorder and phenotype/genotype c …
Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecular studies …
Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.
Parviainen L, Dihanich S, Anderson GW, Wong AM, Brooks HR, Abeti R, Rezaie P, Lalli G, Pope S, Heales SJ, Mitchison HM, Williams BP, Cooper JD. Parviainen L, et al. Acta Neuropathol Commun. 2017 Oct 17;5(1):74. doi: 10.1186/s40478-017-0476-y. Acta Neuropathol Commun. 2017. PMID: 29041969 Free PMC article.
In these disorders, glial (microglial and astrocyte) activation typically occurs early in disease progression and predicts where neuron loss subsequently occurs. We have found that in the most common juvenile form of NCL (CLN3 disease or JNCL) this glial response is less p …
In these disorders, glial (microglial and astrocyte) activation typically occurs early in disease progression and predicts where neur …
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.
Augustine EF, Adams HR, Beck CA, Vierhile A, Kwon J, Rothberg PG, Marshall F, Block R, Dolan J, Mink JW; Batten Study Group. Augustine EF, et al. Dev Med Child Neurol. 2015 Apr;57(4):366-71. doi: 10.1111/dmcn.12634. Epub 2014 Nov 11. Dev Med Child Neurol. 2015. PMID: 25387857 Free PMC article.
AIM: To evaluate seizure phenomenology, treatment, and course in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL). ...
AIM: To evaluate seizure phenomenology, treatment, and course in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL). ...
59 results