Pages that link to "Q24626677"

The following pages link to Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6 (Q24626677):

Displaying 50 items.

• Kufs disease (Q9177591) ‎ (← links)
• Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis (Q21090977) ‎ (← links)
• Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (Q24319132) ‎ (← links)
• Classification and natural history of the neuronal ceroid lipofuscinoses (Q26828537) ‎ (← links)
• A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease (Q27303003) ‎ (← links)
• Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (Q30425611) ‎ (← links)
• Neuroimaging of lipid storage disorders (Q30651469) ‎ (← links)
• Brain imaging in Kufs disease type B: case reports. (Q30978461) ‎ (← links)
• Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder (Q33642938) ‎ (← links)
• Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families (Q34123856) ‎ (← links)
• Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis (Q34247306) ‎ (← links)
• A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. (Q34285108) ‎ (← links)
• Progressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation (Q35016854) ‎ (← links)
• Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis (Q35636176) ‎ (← links)
• Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations (Q35904791) ‎ (← links)
• Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage (Q36017101) ‎ (← links)
• Genetics of the neuronal ceroid lipofuscinoses (Batten disease). (Q36053005) ‎ (← links)
• Opening Pandora's jar: a primer on the putative roles of CRMP2 in a panoply of neurodegenerative, sensory and motor neuron, and central disorders. (Q36517220) ‎ (← links)
• Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). (Q37159478) ‎ (← links)
• Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD. (Q37265137) ‎ (← links)
• Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America (Q37373868) ‎ (← links)
• Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation (Q37514169) ‎ (← links)
• Progressive myoclonic epilepsies: definitive and still undetermined causes. (Q37567498) ‎ (← links)
• Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses (Q37944570) ‎ (← links)
• Epilepsy in children--when should we think neurometabolic disease? (Q37989420) ‎ (← links)
• Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature. (Q38008465) ‎ (← links)
• Genetics of epilepsy and relevance to current practice (Q38012351) ‎ (← links)
• CLN6 disease caused by the same mutation originating in Pakistan has varying pathology (Q38111905) ‎ (← links)
• Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum (Q38115191) ‎ (← links)
• Lysosomal storage diseases--the horizon expands (Q38128478) ‎ (← links)
• NCL Disorders: Frequent Causes of Childhood Dementia (Q38199089) ‎ (← links)
• CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family. (Q38917034) ‎ (← links)
• The history of progressive myoclonus epilepsies (Q38952789) ‎ (← links)
• The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis (Q39173871) ‎ (← links)
• NCLs and ER: A stressful relationship. (Q39229073) ‎ (← links)
• Genetic and epigenetic mechanisms of epilepsy: a review (Q41057615) ‎ (← links)
• NCL diseases - clinical perspectives (Q42048359) ‎ (← links)
• Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease (Q44258509) ‎ (← links)
• Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations (Q48469928) ‎ (← links)
• High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons. (Q48829631) ‎ (← links)
• Blood methylomic signatures of presymptomatic dementia in elderly subjects with type 2 diabetes mellitus (Q49165122) ‎ (← links)
• 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. (Q50109345) ‎ (← links)
• Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease. (Q52673485) ‎ (← links)
• Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation (Q57183349) ‎ (← links)
• Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients (Q63979764) ‎ (← links)
• The neuropathology of the adult cerebellum. (Q64959034) ‎ (← links)
• The neuronal ceroid-lipofuscinoses (Q86999536) ‎ (← links)
• Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force (Q90478374) ‎ (← links)
• Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease (Q92089380) ‎ (← links)
• Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing (Q92528014) ‎ (← links)