| scholarly article | Q13442814 |
| P50 | author | Rose-Mary Boustany | Q87803798 |
| Sara E. Mole | Q42563205 | ||
| P2093 | author name string | T J Lerner | |
| M H Breuning | |||
| J W Anderson | |||
| R M Gardiner | |||
| P B Munroe | |||
| H M Mitchison | |||
| P E Taschner | |||
| A M O'Rawe | |||
| N de Vos | |||
| P2860 | cites work | Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3. | Q42638704 |
| Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients | Q43458782 | ||
| Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. | Q44879755 | ||
| Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities | Q48151693 | ||
| Presidential address: Studies in the neuronal ceroid-lipofuscinoses | Q48590270 | ||
| Isolation of a novel gene underlying batten disease, CLN3 | Q56804260 | ||
| Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association | Q57252323 | ||
| Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci | Q57252329 | ||
| Prenatal diagnosis of Batten's disease | Q60672837 | ||
| Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16 | Q69778514 | ||
| DNA sequencing with chain-terminating inhibitors | Q22066207 | ||
| A model for Batten disease protein CLN3: functional implications from homology and mutations | Q24310104 | ||
| Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12 | Q24670091 | ||
| Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3 | Q28236197 | ||
| Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium | Q28288921 | ||
| Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level | Q33674191 | ||
| Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects | Q33682750 | ||
| Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16 | Q35194242 | ||
| Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes | Q35643282 | ||
| Neuronal ceroid-lipofuscinoses in childhood | Q39649997 | ||
| Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1. | Q41496851 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 310-316 | |
| P577 | publication date | 1997-08-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Spectrum of mutations in the Batten disease gene, CLN3 | |
| P478 | volume | 61 |
| Q36497992 | A yeast model for the study of Batten disease |
| Q54942202 | Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease. |
| Q28584817 | Altered amino acid levels in sera of a mouse model for juvenile neuronal ceroid lipofuscinoses |
| Q31123188 | Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. |
| Q35876823 | Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease |
| Q93331473 | Autophagic vacuolar myopathy is a common feature of CLN3 disease |
| Q33854600 | Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. |
| Q22253405 | Batten's disease: clues to neuronal protein catabolism in lysosomes |
| Q24817064 | Biased exon/intron distribution of cryptic and de novo 3' splice sites |
| Q55043107 | C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes. |
| Q50617296 | Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease). |
| Q34427575 | Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses |
| Q24292865 | Defective lysosomal arginine transport in juvenile Batten disease |
| Q39329067 | Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration |
| Q41479009 | Diminished MTORC1-Dependent JNK Activation Underlies the Neurodevelopmental Defects Associated with Lysosomal Dysfunction |
| Q35149204 | Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). |
| Q74241573 | Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease |
| Q35790328 | Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease |
| Q39912954 | Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. |
| Q22009144 | Intracellular trafficking of the JNCL protein CLN3 |
| Q37524944 | Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. |
| Q43068342 | Juvenile neuronal ceroid lipofuscinosis. Ophthalmologic findings and differential diagnosis |
| Q51803368 | Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. |
| Q50312496 | Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil |
| Q28728782 | Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system |
| Q77796076 | Linkage disequilibrium mapping of complex disease: fantasy or reality? |
| Q27334931 | Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3 |
| Q24300266 | Membrane topology of CLN3, the protein underlying Batten disease |
| Q47848197 | Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype |
| Q36604129 | Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy |
| Q34238611 | Molecular genetic testing for neuronal ceroid lipofuscinoses |
| Q24540041 | Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder |
| Q22008705 | Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome |
| Q39229073 | NCLs and ER: A stressful relationship. |
| Q102388992 | Neurofilament light chain levels correlate with clinical measures in CLN3 disease |
| Q40546636 | Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low‐dose risperidone therapy |
| Q34238591 | Neuronal ceroid lipofuscinoses: classification and diagnosis |
| Q38115191 | Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum |
| Q36327895 | Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies |
| Q35901877 | Nitric oxide signaling is disrupted in the yeast model for Batten disease |
| Q90478374 | Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force |
| Q33987153 | Novel CLN3 mutation causing autophagic vacuolar myopathy |
| Q40309067 | Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties |
| Q33894023 | Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data |
| Q30574131 | Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene. |
| Q34238598 | Positional cloning of the JNCL gene, CLN3. |
| Q49364256 | Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration |
| Q44806253 | Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect |
| Q35599514 | Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). |
| Q48465441 | Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis |
| Q58797972 | Searching for novel biomarkers using a mouse model of CLN3-Batten disease |
| Q48717064 | Sleep alterations in juvenile neuronal ceroid-lipofuscinosis |
| Q52190082 | Studies of atypical JNCL suggest overlapping with other NCL forms. |
| Q92332907 | Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis |
| Q90377163 | The CLN3 gene and protein: What we know |
| Q34182582 | The Finnish Disease Heritage III: the individual diseases |
| Q90178886 | The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course |
| Q77421409 | The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses |
| Q42040450 | The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. |
| Q34302797 | The genetic spectrum of human neuronal ceroid-lipofuscinoses |
| Q34271805 | The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking |
| Q33688378 | The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases |
| Q50214721 | Timing of cognitive decline in CLN3 disease |
| Q61446057 | Tracking sex-dependent differences in a mouse model of CLN6-Batten disease |
| Q37294803 | Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models |
| Q40648630 | Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells |
| Q37944570 | Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses |
| Q37260497 | Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease) |
| Q60672816 | Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses London, UK, 13–16 November 1997 |
| Q51908773 | [Diagnostics and treatment of neuronal ceroid lipofuscinoses from the viewpoint of neuropediatricians]. |
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