Towards understanding the neuronal ceroid lipofuscinoses.
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Mechanisms of granulin deficiency: lessons from cellular and animal modelsProgranulin: at the interface of neurodegenerative and metabolic diseasesFRET-assisted determination of CLN3 membrane topologyDistinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cellsLarge-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous systemNeuroimaging of lipid storage disorders.Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material.Fluorescence lifetime measurements and biological imagingThe juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological functionAnalysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 diseaseReversible Cysteine Acylation Regulates the Activity of Human Palmitoyl-Protein Thioesterase 1 (PPT1).Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration.The autophagic response to polystyrene nanoparticles is mediated by transcription factor EB and depends on surface charge.Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease).EphA2 is a functional receptor for the growth factor progranulin.Clinical trials in rare disease: challenges and opportunities.2-Hydroxypropyl-β-cyclodextrin promotes transcription factor EB-mediated activation of autophagy: implications for therapyInvertebrate models of lysosomal storage disease: what have we learned so far?Epilepsy in children--when should we think neurometabolic disease?Viral vectors and delivery strategies for CNS gene therapy.Prosaposin is a regulator of progranulin levels and oligomerization.Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Morphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis.Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families.Congenital CLN disease in two siblings.Late infantile neuronal ceroid lipofuscinosis and dopamine deficiency.Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.MRI findings of neuronal ceroid lipofuscinosis in a cat.The lysosomal function of progranulin, a guardian against neurodegeneration
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P2860
Towards understanding the neuronal ceroid lipofuscinoses.
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 04 February 2009
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vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Towards understanding the neuronal ceroid lipofuscinoses.
@en
Towards understanding the neuronal ceroid lipofuscinoses.
@nl
type
label
Towards understanding the neuronal ceroid lipofuscinoses.
@en
Towards understanding the neuronal ceroid lipofuscinoses.
@nl
prefLabel
Towards understanding the neuronal ceroid lipofuscinoses.
@en
Towards understanding the neuronal ceroid lipofuscinoses.
@nl
P1476
Towards understanding the neuronal ceroid lipofuscinoses
@en
P2093
Angela Schulz
P304
P356
10.1016/J.BRAINDEV.2008.12.008
P577
2009-02-04T00:00:00Z