| P50 | author | Qingjun Wang | Q55755028 |
| | Madhu Ouseph | Q60161813 |
| P2093 | author name string | Mark E Kleinman | |
| P2860 | cites work | Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) | Q22010059 |
| | Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway | Q24306585 |
| | Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease | Q24310339 |
| | Network organization of the human autophagy system | Q24324004 |
| | Females experience a more severe disease course in Batten disease | Q24602745 |
| | Spectrum of mutations in the Batten disease gene, CLN3 | Q24678552 |
| | Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis | Q24791822 |
| | Classification and natural history of the neuronal ceroid lipofuscinoses | Q26828537 |
| | Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3 | Q27334931 |
| | The yeast model for Batten disease: a role for Btn2p in the trafficking of the Golgi-associated vesicular targeting protein, Yif1p | Q27932949 |
| | A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease | Q27935391 |
| | Action of BTN1, the yeast orthologue of the gene mutated in Batten disease | Q27940056 |
| | Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro | Q28140670 |
| | Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium | Q28288921 |
| | Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function | Q28289653 |
| | CLN3, the protein associated with batten disease: structure, function and localization | Q28303139 |
| | A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease) | Q28504695 |
| | Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze | Q28586963 |
| | A murine model for juvenile NCL: gene targeting of mouse Cln3 | Q28588743 |
| | Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis | Q28591948 |
| | An autoantibody to GAD65 in sera of patients with juvenile neuronal ceroid lipofuscinoses. | Q52111422 |
| | Novel morphological macular findings in juvenile CLN3 disease. | Q52990137 |
| | Btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH. | Q53460591 |
| | Isolation of a novel gene underlying batten disease, CLN3 | Q56804260 |
| | Rods and cones in the mouse retina. I. Structural analysis using light and electron microscopy | Q66961732 |
| | Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease) | Q68057216 |
| | Sialidosis: the cherry-red spot--myoclonus syndrome | Q71207992 |
| | Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis | Q71345269 |
| | Retinal Pigment Epithelial Degeneration Associated with Leukocytic Arylsulfatase a Deficiency | Q72442884 |
| | Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures | Q73339858 |
| | Immunochemical localization of the Batten disease (CLN3) protein in retina | Q73820170 |
| | [Juvenile neuronal ceroid lipofuscinosis (Batten-Mayou) disease. Ophthalmologic diagnosis and findings] | Q73894944 |
| | Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene | Q74073083 |
| | Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease | Q74241573 |
| | The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses | Q77421409 |
| | Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth | Q78358538 |
| | A knock-in reporter model of Batten disease | Q81250919 |
| | The ocular features of the mucopolysaccharidoses | Q81767672 |
| | Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) | Q83780140 |
| | [Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report] | Q87106117 |
| | Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease) | Q87316715 |
| | Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons | Q28592401 |
| | Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected] | Q28593659 |
| | Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system | Q28728782 |
| | 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. | Q30574131 |
| | Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein in vitro | Q30667667 |
| | Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey | Q31061094 |
| | Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: An overview | Q33586980 |
| | Juvenile Batten's disease: an ophthalmological assessment of 26 patients | Q33652147 |
| | Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do? | Q33829493 |
| | Ultrastructure of the optic nerve in Krabbe's leucodystrophy | Q33997285 |
| | Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis. | Q34093014 |
| | Immunosuppression alters disease severity in juvenile Batten disease mice | Q34142898 |
| | Human pathology in NCL. | Q34314766 |
| | Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update | Q34693507 |
| | The Batten disease gene CLN3 is required for the response to oxidative stress. | Q34829561 |
| | Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease | Q35043489 |
| | Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender | Q35237718 |
| | The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly | Q35406449 |
| | Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease | Q35648201 |
| | Selectivity and types of cell death in the neuronal ceroid lipofuscinoses | Q35681068 |
| | Batten disease: features to facilitate early diagnosis | Q35762479 |
| | Juvenile ceroid lipofuscinosis. Evidence for methylated lysine in neural storage body protein | Q35830697 |
| | Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease | Q35876823 |
| | Ocular toxicity due to chloroquine and hydroxychloroquine: electrophysiological and visual function correlates | Q36297288 |
| | Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease). | Q36302113 |
| | Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis | Q36499005 |
| | Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. | Q36535298 |
| | OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS | Q36961786 |
| | Carrier testing for severe childhood recessive diseases by next-generation sequencing | Q37086582 |
| | Ocular manifestation of storage diseases | Q37293758 |
| | CLN3 loss disturbs membrane microdomain properties and protein transport in brain endothelial cells | Q37309514 |
| | Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. | Q37524944 |
| | Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements | Q37622793 |
| | Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway | Q37649077 |
| | Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience | Q38062172 |
| | Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum | Q38115191 |
| | Human NCL Neuropathology | Q38386240 |
| | New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses | Q39589019 |
| | Ophthalmologic Aspects of Lipid Storage Diseases | Q39646563 |
| | A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures | Q39833413 |
| | Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein | Q40616173 |
| | Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells | Q40648630 |
| | The major cell populations of the mouse retina. | Q40838448 |
| | Batten disease: evaluation of CLN3 mutations on protein localization and function | Q40888919 |
| | Chloroquine and Hydroxychloroquine Increase Retinal Pigment Epithelial Layer Permeability. | Q41918308 |
| | Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis) | Q42072990 |
| | S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p | Q42563162 |
| | Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis | Q42643268 |
| | Juvenile neuronal ceroid lipofuscinosis. Ophthalmologic findings and differential diagnosis | Q43068342 |
| | Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease). | Q43978372 |
| | An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease | Q44002736 |
| | First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi | Q44561568 |
| | Optic nerve degeneration in a murine model of juvenile ceroid lipofuscinosis | Q44562111 |
| | Ocular manifestations of Niemann-Pick disease type B. | Q44963728 |
| | Vitreous opacities and retinal vascular abnormalities in Gaucher disease | Q45056970 |
| | Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses | Q46086726 |
| | Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis | Q46760875 |
| | Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype. | Q47069352 |
| | A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. | Q48076967 |
| | Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities | Q48151693 |
| | Thalami and corona radiata in juvenile NCL (CLN3): a voxel-based morphometric study | Q48227499 |
| | IgG entry and deposition are components of the neuroimmune response in Batten disease | Q48385494 |
| | Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis | Q48421299 |
| | The fine structure of the retina in neuronal ceroid-lipofuscinosis. | Q48589356 |
| | Neuronal ceroid lipofuscinosis in the amaurotic retardate: electron microscopic confirmation | Q48912139 |
| | JNCL patients show marked brain volume alterations on longitudinal MRI in adolescence | Q49014007 |
| | Reconsideration of the classification of the neuronal ceroid-lipofuscinoses. | Q50308012 |
| | Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease). | Q50617296 |
| | Retinal function in aging homozygous Cln3 (Δex7/8) knock-in mice. | Q50620558 |
| | Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study. | Q50801095 |
| | Cardiac pathology in neuronal ceroid lipofuscinoses--a clinicopathologic correlation in three patients. | Q51345422 |
| | Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis. | Q51370058 |
| | Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. | Q51803368 |
| | Altered gene expression in the eye of a mouse model for batten disease. | Q51938103 |
| | Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. | Q52087477 |
| | Ocular abnormalities in mucolipidosis IV. | Q52089881 |
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | vision loss | Q507787 |
| | juvenile neuronal ceroid lipofuscinosis | Q1753778 |
| P304 | page(s) | 55-67 | |
| P577 | publication date | 2016-01-08 | |
| P1433 | published in | Annals of the New York Academy of Sciences | Q2431664 |
| P1476 | title | Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease) | |
| P478 | volume | 1371 | |