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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 2
1988 4
1989 4
1990 3
1991 6
1992 9
1993 21
1994 2
1995 10
1996 8
1997 12
1998 9
1999 12
2000 21
2001 22
2002 13
2003 5
2004 11
2005 8
2006 14
2007 5
2008 8
2009 12
2010 5
2011 4
2012 13
2013 21
2014 5
2015 8
2016 15
2017 13
2018 7
2019 22
2020 21
2021 14
2022 13
2023 9
2024 3

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370 results

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Page 1
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 …
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. ...Pathologically, Batten dis …
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage dis …
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 …
Neuroinflammation in Gaucher disease, neuronal ceroid lipofuscinosis, and commonalities with Parkinson's disease.
Francelle L, Mazzulli JR. Francelle L, et al. Brain Res. 2022 Apr 1;1780:147798. doi: 10.1016/j.brainres.2022.147798. Epub 2022 Jan 19. Brain Res. 2022. PMID: 35063468 Free PMC article. Review.
Here, we review recent literature describing the role of glia cells and neuroinflammation in PD and LSDs, including Gaucher disease (GD) and neuronal ceroid lipofuscinosis (NCL), and highlight converging inflammation pathways that lead to neuron loss. ...
Here, we review recent literature describing the role of glia cells and neuroinflammation in PD and LSDs, including Gaucher disease (GD) and …
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 …
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 …
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 re …
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 y …
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. ...
370 results