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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 …
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, it …
Juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, Spielmeyer-Vogt-Sjogren disease, CLN3) is the most commo …
[Neuroinflammation in neuronal ceroid lipofuscinosis].
Behnke V, Langmann T. Behnke V, et al. Ophthalmologe. 2021 Feb;118(2):98-105. doi: 10.1007/s00347-020-01301-4. Epub 2021 Jan 7. Ophthalmologe. 2021. PMID: 33411040 Review. German.
BACKGROUND: Retinal degeneration and neuroinflammation are often early hallmarks of different subtypes of neuronal ceroid lipofuscinosis (NCL) in patients and genetic animal models. ...CONCLUSION: A deeper understanding of the molecular processes that contrib …
BACKGROUND: Retinal degeneration and neuroinflammation are often early hallmarks of different subtypes of neuronal ceroid l
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. ...
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerativ …
Pharmacological approaches to tackle NCLs.
Kauss V, Dambrova M, Medina DL. Kauss V, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165553. doi: 10.1016/j.bbadis.2019.165553. Epub 2019 Sep 12. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31521819 Free article. Review.
Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caused by mutations in at least 13 different genes. ...Although the identification of disease-causing genes provides an important step for under
Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caus
Pathomechanisms in the neuronal ceroid lipofuscinoses.
Nelvagal HR, Lange J, Takahashi K, Tarczyluk-Wells MA, Cooper JD. Nelvagal HR, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165570. doi: 10.1016/j.bbadis.2019.165570. Epub 2019 Oct 31. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31678162 Free article. Review.
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical symptoms. ...
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders (LSDs) …
Cellular models of Batten disease.
Minnis CJ, Thornton CD, FitzPatrick LM, McKay TR. Minnis CJ, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165559. doi: 10.1016/j.bbadis.2019.165559. Epub 2019 Oct 23. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31655107 Free PMC article. Review.
The Neuronal Ceroid Lipofuscinoses (NCL), otherwise known as Batten disease, are a group of neurodegenerative diseases caused by mutations in 13 known genes. ...
The Neuronal Ceroid Lipofuscinoses (NCL), otherwise known as Batten disease, are a group of neurodegenerative diseases …
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 history …
Juvenile neuronal ceroid lipofuscinosis is a childhood-onset neurodegenerative disease with prominent symptoms comprisi …
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. ...
The NCLs (neuronal ceroid lipofuscinosis) are forms of neurodegenerative disease that affect people of all ages and eth …
Classification and natural history of the neuronal ceroid lipofuscinoses.
Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. Mink JW, et al. J Child Neurol. 2013 Sep;28(9):1101-5. doi: 10.1177/0883073813494268. Epub 2013 Jul 9. J Child Neurol. 2013. PMID: 23838030 Free PMC article. Review.
The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment (ceroid lipofuscin). Together, they represent the most prevalent class of childhood n …
The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular …
25 results