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Advanced Search Results For "NEURONAL ceroid-lipofuscinosis"

1 - 10 of 3,933 results for
 "NEURONAL ceroid-lipofuscinosis"
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Provoked seizures at the onset of progressive disease contribute to diagnosis delay - A tertiary center experience in a cohort of 22 children with CLN2.

Publication Type:Academic Journal

Source(s):European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2022 Sep; Vol. 40, pp. 1-4. Date of Electronic Publication: 2022 Jun 30.

Abstract:Purpose: The evaluation of epilepsy features and factors with impact to diagnosis delay in children with CLN2.Method: The study included children with CLN2 treated from 2000 to 2020. Diagnosis was confirmed by: TPP1 deficiency and/or TPP1 gene mutation...

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Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.

Publication Type:Academic Journal

Source(s):Autophagy [Autophagy] 2022 Sep; Vol. 18 (9), pp. 2068-2085. Date of Electronic Publication: 2021 Dec 29.

Abstract:PSENEN/PEN2 is the smallest subunit of the γ-secretase complex, an intramembrane protease that cleaves proteins within their transmembrane domains. Mutations in components of the γ-secretase underlie familial Alzheimer disease. In addition to its prote...

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Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7.

Publication Type:Report

Source(s):Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2022 Sep; Vol. 220, pp. 107375. Date of Electronic Publication: 2022 Jul 20.

Abstract:Neuronal ceroid lipofuscinosis (CLN) 7 typically presents with motor and cognitive decline, seizures (myoclonus) and vision loss. Atypical manifestations such as, ataxia, Rett-like findings, microcephaly, personality disorders, extrapyramidal symptoms,...

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CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.

Publication Type:Academic Journal

Source(s):Genes [Genes (Basel)] 2022 Aug 05; Vol. 13 (8). Date of Electronic Publication: 2022 Aug 05.

Abstract:The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could l...

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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.

Publication Type:Academic Journal

Source(s):Epilepsia [Epilepsia] 2022 Jul; Vol. 63 (7), pp. e68-e73. Date of Electronic Publication: 2022 May 10.

Abstract:This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure ® , a s...

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Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.

Publication Type:Academic Journal

Source(s):Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2022 Jul 06; Vol. 30 (7), pp. 2464-2473. Date of Electronic Publication: 2022 Apr 05.

Abstract:Although neurologic symptoms occur in two-thirds of lysosomal storage disorders (LSDs), for most we do not understand the mechanisms underlying brain dysfunction. A major unanswered question is if the pathogenic hallmark of LSDs, storage accumulation, ...

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Congenital Neuronal Ceroid Lipofuscinosis: An Important Cause of Unexplained Seizures in Newborns.

Publication Type:Academic Journal

Source(s):Indian pediatrics [Indian Pediatr] 2022 Sep 15; Vol. 59 (9), pp. 726-727.

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Provoked seizures might lead to a significant diagnosis delay in CLN2.

Publication Type:Editorial & Opinion

Source(s):European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2022 Sep; Vol. 40, pp. A4-A5. Date of Electronic Publication: 2022 Aug 27.

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KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Publication Type:Academic Journal

Source(s):Science advances [Sci Adv] 2022 Aug 05; Vol. 8 (31), pp. eabm5578. Date of Electronic Publication: 2022 Aug 03.

Abstract:Lysosomes are central organelles for cellular degradation and energy metabolism. Neuronal ceroid lipofuscinoses (NCLs) are a group of the most common neurodegenerative lysosomal storage disorders characterized by intracellular accumulation of ceroid in...

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A man with epilepsy, bradykinesia, and cognitive decline.

Publication Type:Academic Journal

Source(s):Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Aug; Vol. 43 (8), pp. 5161-5163. Date of Electronic Publication: 2022 Apr 28.

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