Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6
about
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosisMutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosisClassification and natural history of the neuronal ceroid lipofuscinosesA murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human diseaseCathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisNeuroimaging of lipid storage disorders.Brain imaging in Kufs disease type B: case reports.Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorderMutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other familiesDisruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosisA homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.Progressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementationSustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid LipofuscinosisElectroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutationsStrikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.Genetics of the neuronal ceroid lipofuscinoses (Batten disease).Opening Pandora's jar: a primer on the putative roles of CRMP2 in a panoply of neurodegenerative, sensory and motor neuron, and central disorders.Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.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 mutationProgressive myoclonic epilepsies: definitive and still undetermined causes.Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Epilepsy in children--when should we think neurometabolic disease?Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.Genetics of epilepsy and relevance to current practice.CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Lysosomal storage diseases--the horizon expands.NCL Disorders: Frequent Causes of Childhood Dementia.CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.NCLs and ER: A stressful relationship.Genetic and epigenetic mechanisms of epilepsy: a review.NCL diseases - clinical perspectivesRecurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.Blood methylomic signatures of presymptomatic dementia in elderly subjects with type 2 diabetes mellitus.Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.
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P2860
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6
description
2011 nî lūn-bûn
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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
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2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
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name
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@ast
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@en
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@nl
type
label
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@ast
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@en
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@nl
prefLabel
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@ast
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@en
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@nl
P2093
P2860
P50
P3181
P1476
Kufs disease, the major adult ...... s, caused by mutations in CLN6
@en
P2093
Catherine J Bromhead
Danya F Vears
Eva Andermann
Frederick Andermann
John Damiano
Katherine R Smith
Melanie Bahlo
Michael Farrell
Patrick Cossette
Saul Mullen
P2860
P304
P3181
P356
10.1016/J.AJHG.2011.04.004
P407
P50
P577
2011-05-13T00:00:00Z