New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
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Moving towards effective therapeutic strategies for Neuronal Ceroid LipofuscinosisNeurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease)Classification and natural history of the neuronal ceroid lipofuscinosesLarge animal models for Batten disease: a reviewThe novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapyAbnormally increased surface expression of AMPA receptors in the cerebellum, cortex and striatum of Cln3(-/-) miceA tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders.Novel CLN3 mutation causing autophagic vacuolar myopathy.Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3.Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender.Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutationsGenetics of the neuronal ceroid lipofuscinoses (Batten disease).Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disordersProteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.Recent advances in applying mass spectrometry and systems biology to determine brain dynamics.Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability.Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Manifestation of neuronal ceroid lipofuscinosis in Australian Merino sheep: observations on altered behaviour and growth.Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutationEfficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3).Progressive myoclonic epilepsies: definitive and still undetermined causes.2-Hydroxypropyl-β-cyclodextrin promotes transcription factor EB-mediated activation of autophagy: implications for therapyCLN6 disease caused by the same mutation originating in Pakistan has varying pathology.Systemic diseases associated with retinal dystrophies.The Role of Cathepsin D in the Pathogenesis of Human Neurodegenerative Disorders.The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.NCLs and ER: A stressful relationship.Aberrant adhesion impacts early development in a Dictyostelium model for juvenile neuronal ceroid lipofuscinosis.Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns.A central role for TOR signalling in a yeast model for juvenile CLN3 diseaseMitochondrial Dysfunction in Lysosomal Storage Disorders.The paediatric rheumatologist and orphan disease - a story without happy ending.NCL diseases - clinical perspectivesCLN8 disease caused by large genomic deletions.
P2860
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P2860
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
@en
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
@nl
type
label
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
@en
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
@nl
prefLabel
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
@en
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
@nl
P1433
P1476
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
@en
P2093
Ruth E Williams
P304
P356
10.1212/WNL.0B013E31825F0547
P407
P50
P577
2012-07-01T00:00:00Z