Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
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Moving towards effective therapeutic strategies for Neuronal Ceroid LipofuscinosisThe novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapyLysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variationTruncating mutations in APP cause a distinct neurological phenotype.Neuroprotection and lifespan extension in Ppt1(-/-) mice by NtBuHA: therapeutic implications for INCLAnalysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorderInduced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders.Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutationsNovel CLN3 mutation causing autophagic vacuolar myopathy.Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot studyNext generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis.Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis.Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological functionProgressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementationNovel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese populationSustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid LipofuscinosisRapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese PopulationProteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.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 disordersIntravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.Molecular neuropathology of the synapse in sheep with CLN5 Batten diseaseTissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1(R151X) mouse model of INCLMolecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice.Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred populationAltered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosisMethodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.
P2860
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P2860
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Update of the mutation spectru ...... euronal ceroid lipofuscinoses.
@en
Update of the mutation spectru ...... euronal ceroid lipofuscinoses.
@nl
type
label
Update of the mutation spectru ...... euronal ceroid lipofuscinoses.
@en
Update of the mutation spectru ...... euronal ceroid lipofuscinoses.
@nl
prefLabel
Update of the mutation spectru ...... euronal ceroid lipofuscinoses.
@en
Update of the mutation spectru ...... euronal ceroid lipofuscinoses.
@nl
P2860
P356
P1433
P1476
Update of the mutation spectru ...... euronal ceroid lipofuscinoses.
@en
P2093
Maria Kousi
P2860
P356
10.1002/HUMU.21624
P407
P577
2011-11-16T00:00:00Z