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

Year Number of Results
1971 1
1978 1
1983 2
1985 3
1986 4
1987 1
1988 4
1989 4
1990 2
1991 6
1992 8
1993 21
1994 2
1995 10
1996 8
1997 12
1998 8
1999 10
2000 21
2001 21
2002 13
2003 4
2004 7
2005 7
2006 13
2007 5
2008 6
2009 9
2010 5
2011 3
2012 10
2013 18
2014 5
2015 6
2016 14
2017 12
2018 6
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2023 5
2024 3

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327 results

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Page 1
Therapeutic landscape for Batten disease: current treatments and future prospects.
Johnson TB, Cain JT, White KA, Ramirez-Montealegre D, Pearce DA, Weimer JM. Johnson TB, et al. Nat Rev Neurol. 2019 Mar;15(3):161-178. doi: 10.1038/s41582-019-0138-8. Nat Rev Neurol. 2019. PMID: 30783219 Free PMC article. Review.
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage disorders that collectively represent the most common inherited paediatric neurodegenerative disorders worldwide. ...Pathologically, Batten dis …
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage dis …
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P. Orsini A, et al. Seizure. 2019 Oct;71:247-257. doi: 10.1016/j.seizure.2019.08.012. Epub 2019 Aug 23. Seizure. 2019. PMID: 31476531 Free PMC article. Review.
Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. PMEs may have infancy, childhood, juvenile or …
Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonu …
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 ag
Neuronal ceroid lipofuscinoses.
Nita DA, Mole SE, Minassian BA. Nita DA, et al. Epileptic Disord. 2016 Sep 1;18(S2):73-88. doi: 10.1684/epd.2016.0844. Epileptic Disord. 2016. PMID: 27629553 Review.
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal li …
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive …
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M, Lehesjoki AE, Mole SE. Kousi M, et al. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 21990111 Review.
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous neurodegenerative disorders. ...
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous neurodegenerative disorders. ...
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.
Juvenile neuronal ceroid lipofuscinosis is a childhood-onset neurodegenerative disease with prominent symptoms comprising a pediatric dementia syndrome: intellectual decline, mood and behavioral impairments, and loss of adaptive skills. We review the h
Juvenile neuronal ceroid lipofuscinosis is a childhood-onset neurodegenerative disease with prominent symptoms c
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Naseri N, Sharma M, Velinov M. Naseri N, et al. Clin Genet. 2021 Jan;99(1):111-118. doi: 10.1111/cge.13829. Epub 2020 Aug 26. Clin Genet. 2021. PMID: 32783189 Free PMC article. Review.
The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive neurodegenerative disorders unified by the accumulation of lysosomal auto-fluorescent material called lipofuscin. ...
The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive neurodegenerative disorders unified by t …
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update.
Rakheja D, Narayan SB, Bennett MJ. Rakheja D, et al. Curr Mol Med. 2007 Sep;7(6):603-8. doi: 10.2174/156652407781695729. Curr Mol Med. 2007. PMID: 17896996 Review.
Juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, Spielmeyer-Vogt-Sjogren disease, CLN3) is the most common inherited, autosomal recessive, neurodegenerative disorder in man. Like the other neuronal ceroid-lipofuscinoses
Juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, Spielmeyer-Vogt-Sjogren disease, CLN3) is the mos
Progressive Myoclonus Epilepsies.
Kälviäinen R. Kälviäinen R. Semin Neurol. 2015 Jun;35(3):293-9. doi: 10.1055/s-0035-1552620. Epub 2015 Jun 10. Semin Neurol. 2015. PMID: 26060909 Review.
The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosi …
The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid
The neuronal ceroid-lipofuscinoses.
Bennett MJ, Rakheja D. Bennett MJ, et al. Dev Disabil Res Rev. 2013;17(3):254-9. doi: 10.1002/ddrr.1118. Dev Disabil Res Rev. 2013. PMID: 23798013 Review.
The neuronal ceroid-lipofuscinoses (NCL's, Batten disease) represent a group of severe neurodegenerative diseases, which mostly present in childhood. ...Sequencing of other NCL genes may be required to establish a diagnosis when the common forms are ruled out …
The neuronal ceroid-lipofuscinoses (NCL's, Batten disease) represent a group of severe neurodegenerative diseases, whic …
327 results