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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. ...Ten genes have been identified so far that result in an NCL (CLN1-10). The most common forms are CL …
The neuronal ceroid-lipofuscinoses (NCL's, Batten disease) represent a group of severe neurodegenerative diseases, whic …
The neuronal ceroid-lipofuscinoses.
Goebel HH. Goebel HH. J Child Neurol. 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602. J Child Neurol. 1995. PMID: 8576551 Review.
Apart from a core group of major clinical forms-the infantile, the late-infantile, the juvenile, and the adult forms--numerous atypical patients afflicted with neuronal ceroid-lipofuscinosis have now been identified, constituting 10% to 20% of all pati …
Apart from a core group of major clinical forms-the infantile, the late-infantile, the juvenile, and the adult forms--numerous atypical pati …
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.
Basak I, Wicky HE, McDonald KO, Xu JB, Palmer JE, Best HL, Lefrancois S, Lee SY, Schoderboeck L, Hughes SM. Basak I, et al. Cell Mol Life Sci. 2021 May;78(10):4735-4763. doi: 10.1007/s00018-021-03813-x. Epub 2021 Apr 1. Cell Mol Life Sci. 2021. PMID: 33792748 Free PMC article. Review.
Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease. ...The CLN5 protein is ubiquitously expressed in the majority of tissues studied and in the brain, CLN5 shows both neuronal and glial cell expr …
Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease. ...The CLN …
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
Kohlschütter A, Schulz A. Kohlschütter A, et al. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:682-8. Pediatr Endocrinol Rev. 2016. PMID: 27491216 Review.
A late onset form in a small proportion of patients starts at the age of 4 to 10 years, but also leads to severe neurological deterioration. The deficiency of TPP1 causes the lysosomal accumulation of a material called ceroid lipofuscin. ...
A late onset form in a small proportion of patients starts at the age of 4 to 10 years, but also leads to severe neurological deterio …
Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.
Kaminiów K, Kozak S, Paprocka J. Kaminiów K, et al. Int J Mol Sci. 2022 May 20;23(10):5729. doi: 10.3390/ijms23105729. Int J Mol Sci. 2022. PMID: 35628533 Free PMC article. Review.
Neuronal ceroid lipofuscinoses (NCLs) are a group of rare, inherited, neurodegenerative lysosomal storage disorders that affect children and adults. ...
Neuronal ceroid lipofuscinoses (NCLs) are a group of rare, inherited, neurodegenerative lysosomal storage disorders tha …
The neuronal ceroid lipofuscinoses.
Dyken PR. Dyken PR. J Child Neurol. 1989 Jul;4(3):165-74. doi: 10.1177/088307388900400302. J Child Neurol. 1989. PMID: 2671115 Review.
The neuronal ceroid lipofuscinoses are clinical disorders associated with the accumulation of autofluorescent waxy pigments within cells of several different tissues. ...At present, each of the neuronal ceroid lipofuscinosis types are of …
The neuronal ceroid lipofuscinoses are clinical disorders associated with the accumulation of autofluorescent waxy pigm …
Neuronal ceroid-lipofuscinoses in childhood.
Santavuori P. Santavuori P. Brain Dev. 1988;10(2):80-3. doi: 10.1016/s0387-7604(88)80075-5. Brain Dev. 1988. PMID: 3291628 Review.
Neuronal Childhood types of ceroid-lipofuscinoses (NCL) are reviewed. All three main types, infantile, late infantile and juvenile, are progressive encephalopathies characterized by neural and extraneural accumulation of ceroid- and lipofuscin like sto …
Neuronal Childhood types of ceroid-lipofuscinoses (NCL) are reviewed. All three main types, infantile, late infantile a …
Gene-Based Approaches to Inherited Neurometabolic Diseases.
Poletti V, Biffi A. Poletti V, et al. Hum Gene Ther. 2019 Oct;30(10):1222-1235. doi: 10.1089/hum.2019.190. Epub 2019 Sep 10. Hum Gene Ther. 2019. PMID: 31397176 Review.
The metabolic defect can primarily affect the central nervous system, leading to neuronal death, microglial activation, inflammatory demyelination, and axonal degeneration. This review provides an overview of the GT strategies currently under clinical investigation for neu …
The metabolic defect can primarily affect the central nervous system, leading to neuronal death, microglial activation, inflammatory …
Neuronal ceroid lipofuscinoses: classification and diagnosis.
Wisniewski KE, Kida E, Golabek AA, Kaczmarski W, Connell F, Zhong N. Wisniewski KE, et al. Adv Genet. 2001;45:1-34. doi: 10.1016/s0065-2660(01)45002-4. Adv Genet. 2001. PMID: 11332767 Review.
The neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders characterized by accumulation of ceroid lipopigment in lysosomes in various tissues and organs. ...Material includes 159 probands with NCL (37 CLNI, 72 classical CLN2, 10 …
The neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders characterized by accumulation of ceroid …
Lysosomal storage diseases--the horizon expands.
Boustany RM. Boustany RM. Nat Rev Neurol. 2013 Oct;9(10):583-98. doi: 10.1038/nrneurol.2013.163. Epub 2013 Aug 13. Nat Rev Neurol. 2013. PMID: 23938739 Review.
Great strides have since been made in understanding the pathobiology of LSDs and the neuronal ceroid lipofuscinoses (NCLs). The NCLs are neurodegenerative disorders that display symptoms of cognitive and motor decline, seizures, blindness, early death, and ac …
Great strides have since been made in understanding the pathobiology of LSDs and the neuronal ceroid lipofuscinoses (NC …
40 results