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

Year Number of Results
1986 1
1987 1
1989 2
1990 1
1991 2
1992 4
1993 2
1994 1
1995 4
1996 3
1997 7
1998 3
1999 6
2000 12
2001 11
2002 6
2003 2
2004 6
2005 3
2006 5
2007 1
2008 2
2009 3
2010 1
2011 3
2012 4
2013 5
2014 3
2015 4
2016 7
2017 5
2018 4
2019 14
2020 11
2021 7
2022 2
2023 1
2024 1

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143 results

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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
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. Batten disease can result fro …
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.
The gene defects for most PMEs (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 gene defects for most PMEs (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinose …
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. ...
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 p …
The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid …
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.
Specchio N, Ferretti A, Trivisano M, Pietrafusa N, Pepi C, Calabrese C, Livadiotti S, Simonetti A, Rossi P, Curatolo P, Vigevano F. Specchio N, et al. Drugs. 2021 Jan;81(1):101-123. doi: 10.1007/s40265-020-01440-7. Drugs. 2021. PMID: 33242182 Review.
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage diseases that together represent the most common cause of dementia in children. ...
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage diseases that togethe …
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 …
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. ...CLN1 and CLN2 result from mutations in soluble lysosomal enzymes palmitoyl-protein thioesterase (PPT) and …
The neuronal ceroid-lipofuscinoses (NCL's, Batten disease) represent a group of severe neurodegenerative diseases, whic …
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.
Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, McKay TR, Medina DL, Rahim AA, Schulz A, Smith AJ. Mole SE, et al. Lancet Neurol. 2019 Jan;18(1):107-116. doi: 10.1016/S1474-4422(18)30368-5. Epub 2018 Nov 21. Lancet Neurol. 2019. PMID: 30470609 Review.
The identification of disease-causing mutations in 13 genes provides a basis for understanding the molecular mechanisms underlying neuronal ceroid lipofuscinoses, and for the development of targeted therapies. ...The first approved treatment is an intracerebr …
The identification of disease-causing mutations in 13 genes provides a basis for understanding the molecular mechanisms underlying neuron …
Ocular Manifestations of Neuronal Ceroid Lipofuscinoses.
Singh RB, Gupta P, Kartik A, Farooqui N, Singhal S, Shergill S, Singh KP, Agarwal A. Singh RB, et al. Semin Ophthalmol. 2021 Oct 3;36(7):582-595. doi: 10.1080/08820538.2021.1936571. Epub 2021 Jun 9. Semin Ophthalmol. 2021. PMID: 34106804 Review.
Neuronal ceroid lipofuscinoses (NCLs) are a group of rare neurodegenerative storage disorders associated with devastating visual prognosis, with an incidence of 1/1,000,000 in the United States and comparatively higher incidence in European coun …
Neuronal ceroid lipofuscinoses (NCLs) are a group of rare neurodegenerative storage disorders associated with devastati …
143 results