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humans (70) 70
cln2 (63) 63
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neuronal ceroid-lipofuscinoses - genetics (47) 47
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endopeptidases - genetics (13) 13
enzyme replacement therapy (13) 13
lysosomal storage disease (13) 13
mitochondrial atp synthase (13) 13
neuronal ceroid lipofuscinoses (13) 13
neuronal ceroid-lipofuscinoses - physiopathology (13) 13
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cln2 gene (12) 12
late infantile neuronal ceroid lipofuscinosis (12) 12
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neuronal ceroid-lipofuscinoses - therapy (10) 10
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article (9) 9
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cln2 disease (8) 8
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dna mutational analysis (8) 8
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1. Full Text Enzyme replacement therapy attenuates disease progression in a canine model of late‐infantile neuronal ceroid lipofuscinosis (CLN2 disease)
by Katz, Martin L and Coates, Joan R and Sibigtroth, Christine M and Taylor, Jacob D and Carpentier, Melissa and Young, Whitney M and Wininger, Fred A and Kennedy, Derek and Vuillemenot, Brian R and O'Neill, Charles A
Journal of Neuroscience Research, ISSN 0360-4012, 11/2014, Volume 92, Issue 11, pp. 1591 - 1598
Using a canine model of classical late‐infantile neuronal ceroid lipofuscinosis (CLN2 disease), a study was conducted to evaluate the potential pharmacological... 
tripeptidyl peptidase‐1 | Dachshund | CLN2 | lysosomal storage disease | NCL | cerebrospinal fluid | TPP1 | Batten disease | Cerebrospinal fluid | Lysosomal storage disease | Tripeptidyl peptidase-1 | PROTEIN | PATHOLOGY | NEUROSCIENCES | DELIVERY | MOUSE MODEL | tripeptidyl peptidase-1 | DEFICITS | Serine Proteases - genetics | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - therapeutic use | Humans | Male | Neuronal Ceroid-Lipofuscinoses - genetics | Cognition Disorders - etiology | Neuronal Ceroid-Lipofuscinoses - veterinary | Aminopeptidases - therapeutic use | Female | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Recombinant Fusion Proteins - administration & dosage | Disease Models, Animal | Neuronal Ceroid-Lipofuscinoses - complications | Neuronal Ceroid-Lipofuscinoses - therapy | Aminopeptidases - genetics | Maze Learning - physiology | Maze Learning - drug effects | Mutation - genetics | Disease Progression | Serine Proteases - therapeutic use | Enzyme Replacement Therapy - methods | Magnetic Resonance Imaging | Animals | Neurologic Examination | Analysis of Variance | Image Processing, Computer-Assisted | Dogs | Survival Analysis | Brain - pathology | Cognition Disorders - therapy
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2. Full Text Management strategies for CLN2 disease
by Williams, Ruth E., DM, FRCPCH and Adams, Heather R., PhD and Blohm, Martin, MD and Cohen-Pfeffer, Jessica L., MD and de los Reyes, Emily, MD and Denecke, Jonas, MD and Drago, Kristen, RN, CHPPN and Fairhurst, Charlie, MBBS, FRCPCH and Frazier, Margie, PhD and Guelbert, Norberto, MD, PhD and Kiss, Szilárd, MD and Kofler, Annamaria, PT and Lawson, John A., BMed, FRACP, PhD and Lehwald, Lenora, MD and Leung, Mary-Anne, SRD and Mikhailova, Svetlana, MD and Mink, Jonathan W., MD, PhD and Nickel, Miriam, MD and Shediac, Renée, PhD and Sims, Katherine, MD and Specchio, Nicola, MD, PhD and Topcu, Meral, MD and von Löbbecke, Ina, PT and West, Andrea, MSc and Zernikow, Boris, MD, PhD and Schulz, Angela, MD, PhD
Pediatric Neurology, ISSN 0887-8994, 2017, Volume 69, pp. 102 - 112
Abstract CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal... 
Pediatrics | Neurology | consensus | management | neuronal ceroid lipofuscinosis type 2 | palliative care | CLN2 disease | late-infantile Batten disease | late-infantile neuronal ceroid lipofuscinosis | DEVELOPMENTAL-DISABILITIES | CLINICAL-COURSE | BOTULINUM TOXIN | CLINICAL NEUROLOGY | CHILDREN | TPP1 DEFICIENCY | GENE | PEDIATRICS | HEALTH-CARE | MUTATIONS | EPIDEMIOLOGY | NEURONAL CEROID-LIPOFUSCINOSIS | Neuronal Ceroid-Lipofuscinoses - therapy | Humans | Disease Management | Medical colleges | Blindness | Strategic planning (Business) | Development and progression | Palliative treatment | Children | Diseases
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3. Full Text AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease
by Katz, Martin L and Tecedor, Luis and Chen, Yonghong and Williamson, Baye G and Lysenko, Elena and Wininger, Fred A and Young, Whitney M and Johnson, Gayle C and Whiting, Rebecca E.H and Coates, Joan R and Davidson, Beverly L
Science Translational Medicine, ISSN 1946-6234, 11/2015, Volume 7, Issue 313, pp. 313ra180 - 313ra180
The most common form of the childhood neurodegenerative disease late infantile neuronal ceroid lipofuscinosis (also called Batten disease) is caused by... 
MEDICINE, RESEARCH & EXPERIMENTAL | EPENDYMAL CELLS | CLN2 | MOUSE MODEL | LYSOSOMAL STORAGE | TRANSDUCTION | PHENOTYPES | TRIPEPTIDYL-PEPTIDASE-I | SUPPRESSION | ENZYME REPLACEMENT THERAPY | NEURONAL CEROID-LIPOFUSCINOSIS | CELL BIOLOGY | Serine Proteases - genetics | Dependovirus - genetics | Enzyme Replacement Therapy | Neuronal Ceroid-Lipofuscinoses - therapy | Aminopeptidases - genetics | Serine Proteases - cerebrospinal fluid | Transduction, Genetic | Genetic Vectors - administration & dosage | Cerebral Ventricles - metabolism | Aminopeptidases - deficiency | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - deficiency | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - cerebrospinal fluid | Aminopeptidases - cerebrospinal fluid | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Dogs | Serine Proteases - deficiency | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Disease Models, Animal
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4. Full Text Therapeutic landscape for Batten disease: current treatments and future prospects
by Johnson, Tyler B and Cain, Jacob T and White, Katherine A and Ramirez-Montealegre, Denia and Pearce, David A and Weimer, Jill M
Nature Reviews Neurology, ISSN 1759-4758, 03/2019, Volume 15, Issue 3, pp. 161 - 178
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage disorders that collectively represent the... 
ENZYME-REPLACEMENT THERAPY | PRECLINICAL MOUSE MODEL | LATE-INFANTILE | TYPE-2 CLN2 DISEASE | LYSOSOMAL-STORAGE | NEURONAL-CEROID-LIPOFUSCINOSIS | LARGE ANIMAL-MODELS | BLOOD-BRAIN-BARRIER | DIRECTED GENE-THERAPY | OPTIC-NERVE DEGENERATION | CLINICAL NEUROLOGY
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5. Full Text Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease
by Specchio, Nicola and Bellusci, Marcello and Pietrafusa, Nicola and Trivisano, Marina and Palma, Luca and Vigevano, Federico
Epilepsia, ISSN 0013-9580, 08/2017, Volume 58, Issue 8, pp. 1380 - 1388
Summary Objective This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal... 
CLN2 | Neuronal ceroid lipofuscinosis | Photoparoxysmal response | Intermittent photic stimulation | Late infantile neuronal ceroid lipofuscinosis | DIAGNOSIS | EEG | MOUSE MODEL | CLN2 DISEASE | ELECTROENCEPHALOGRAPHIC FEATURES | CLINICAL NEUROLOGY | DELIVERY | Neuronal Ceroid-Lipofuscinoses - complications | Severity of Illness Index | Brain - diagnostic imaging | Humans | Child, Preschool | Male | Electroencephalography | Photosensitivity Disorders - diagnostic imaging | Image Processing, Computer-Assisted | Adolescent | Brain - pathology | Female | ROC Curve | Retrospective Studies | Photosensitivity Disorders - etiology | Neuronal Ceroid-Lipofuscinoses - diagnosis | Child | Medicine, Experimental | Medical research | Diagnostic imaging | Neurons | Epilepsy | Cerebellum | Neuroimaging | Photosensitivity | Nuclear magnetic resonance--NMR | Substantia alba | Motor task performance | Atrophy | Magnetic resonance imaging | Ataxia | Speech | Age
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6. Full Text Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy
by Chakrabarti, Sudipta and Chandra, Sujyoti and Roy, Avik and Dasarathi, Sridevi and Kundu, Madhuchhanda and Pahan, Kalipada
Neurobiology of Disease, ISSN 0969-9961, 07/2019, Volume 127, pp. 362 - 373
The late-infantile Batten disease or late-infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive lysosomal storage disorder caused by... 
TPP1 | LINCL | PPARα | 3-Hydroxy-(2,2)-dimethyl butyrate | SURVIVAL | GEMFIBROZIL | PPAR alpha | NEUROSCIENCES | LIPID-LOWERING DRUG | CLN2 | ADOPTIVE TRANSFER | MOUSE MODEL | LYSOSOMAL-STORAGE | I ACTIVITY | GENE-TRANSFER | NEURONAL CEROID-LIPOFUSCINOSIS
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7. Full Text Spectrum of Ocular Manifestations in CLN2-Associated Batten (Jansky-Bielschowsky) Disease Correlate with Advancing Age and Deteriorating Neurological Function
by Orlin, Anton and Sondhi, Dolan and Witmer, Matthew T and Wessel, Matthew M and Mezey, Jason G and Kaminsky, Stephen M and Hackett, Neil R and Yohay, Kaleb and Kosofsky, Barry and Souweidane, Mark M and Kaplitt, Michael G and D'Amico, Donald J and Crystal, Ronald G and Kiss, Szilárd
PLoS ONE, ISSN 1932-6203, 08/2013, Volume 8, Issue 8, p. e73128
Background: Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a... 
STORAGE | FORMS | TRIPEPTIDYL-PEPTIDASE I | LATE-INFANTILE | PROTEIN | JUVENILE | MULTIDISCIPLINARY SCIENCES | DISORDER | RETINA | MUTATIONS | NEURONAL CEROID-LIPOFUSCINOSIS | Neuronal Ceroid-Lipofuscinoses - complications | Serine Proteases - genetics | Severity of Illness Index | Aminopeptidases - genetics | Age Factors | Humans | Middle Aged | Eye Diseases - etiology | Male | Neuronal Ceroid-Lipofuscinoses - physiopathology | Neuronal Ceroid-Lipofuscinoses - pathology | Eye Diseases - genetics | Neuronal Ceroid-Lipofuscinoses - genetics | Adolescent | Aged, 80 and over | Adult | Female | Aged | Mutation | Eye Diseases - pathology | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Eye Diseases - physiopathology | Medical research | Nervous system diseases | Gene mutations | Medicine, Experimental | Development and progression | Eye diseases | Genetic aspects | Diagnostic imaging | Correlation | Medical imaging | Clinics | Angiography | Neurodegenerative diseases | Retina | CLN2 protein | Patients | Medicine | Neurology | Optical Coherence Tomography | Fluorescein | Point mutation | Eye (anatomy) | Ataxia | Neuronal ceroid lipofuscinosis | Children | Gene therapy | Age
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8. Full Text A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies
by Geraets, RD and Langin, LM and Cain, JT and Parker, CM and Beraldi, R and Kovacs, AD and Weimer, JM and Pearce, DA
PLOS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, p. e0176526
The Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, result from mutations in over a dozen genes. Although, adults are susceptible, the... 
STORAGE | NEURONAL CEROID-LIPOFUSCINOSES | ATP SYNTHASE | GLIAL ACTIVATION | CODON READTHROUGH | MULTIDISCIPLINARY SCIENCES | BATTEN-DISEASE | READ-THROUGH | TRIPEPTIDYL-PEPTIDASE-I | LOW-LEVEL | SUBUNIT C | Serine Proteases - genetics | Neuronal Ceroid-Lipofuscinoses - therapy | Aminopeptidases - genetics | Male | Codon, Nonsense - physiology | Neuronal Ceroid-Lipofuscinoses - pathology | Mice, Knockout | Behavior, Animal | Gliosis - pathology | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Brain - pathology | Mice | Codon, Nonsense - genetics | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Disease Models, Animal | Neuronal ceroid-lipofuscinosis | Care and treatment | Genetic aspects | Research | Gene mutations | Cerebellum | Brain | Disease | Genomics | Central nervous system | Cognitive ability | Nervous system | Chains (polymeric) | Assaying | Neuronal-glial interactions | Proteins | Enzymatic activity | Neurodegeneration | Diagnosis | Medical research | Enzymes | Neurodegenerative diseases | Lysergic acid diethylamide--LSD | Mortality | Amino acid sequence | Stop codon | Antisense oligonucleotides | Nucleic acids | Substrates | Membrane proteins | Polymerase chain reaction | Falls | Pathology | Storage | Stem cells | Death | Mutation | Protocol (computers) | Hippocampus | Drugs | Animal models | Physiological effects | Enzyme activity | Transcription | Epilepsy | Genes | Clinical trials | Aminoglycosides | Cortex (motor) | Reduction | Mucopolysaccharides | Attenuation | Aminoglycoside antibiotics | Children | Neuronal ceroid lipofuscinosis | Genotypes | Deposition | Age | Immune system | Colonies | CLN2 protein | Medicine | Brain research | Decay | In vivo methods and tests | LSD | Lysergic acid diethylamide
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9. Full Text Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: Results from a Phase 1/2 study
by Cherukuri, Anu and Cahan, Heather and de Hart, Greg and Van Tuyl, Andrea and Slasor, Peter and Bray, Laurie and Henshaw, Joshua and Ajayi, Temitayo and Jacoby, Dave and O'Neill, Charles A and Schweighardt, Becky
Clinical Immunology, ISSN 1521-6616, 12/2018, Volume 197, pp. 68 - 76
Treatment with intracerebroventricular (ICV)-delivered cerliponase alfa enzyme replacement therapy (ERT) in a Phase 1/2 study of 24 subjects with CLN2 disease... 
CLN2 | Immunogenicity | Enzyme replacement therapy | Hypersensitivity | Cerliponase alfa | Neuronal ceroid lipofuscinosis | Anti-drug antibodies | ANTIBODIES | IMMUNE-RESPONSE | MORQUIO | CANINE MODEL | MECHANISMS | IMMUNOLOGY | ELOSULFASE ALPHA | POMPE DISEASE | TRIPEPTIDYL-PEPTIDASE-I | PROTEASE | NEURONAL CEROID-LIPOFUSCINOSIS | Antigen-antibody reactions | Enzymes | Clinical trials | Immunoglobulin E | Product development | Health aspects | Biopharmaceutics
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10. Full Text A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation
by Mahmood, Fahad and Fu, Sonia and Cooke, Jennifer and Wilson, Stephen W and Cooper, Jonathan D and Russell, Claire
Brain, ISSN 0006-8950, 2013, Volume 136, Issue 5, pp. 1488 - 1507
Tripeptidyl peptidase 1 (TPP1) deficiency causes CLN2 disease, late infantile (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric... 
model | TPP1 | zebrafish | tripeptidyl peptidase 1 | lysosomal storage disorder | CLN2 disease | late infantile neuronal ceroid lipofuscinosis | DANIO-RERIO | NEUROSCIENCES | CLINICAL NEUROLOGY | LATE-INFANTILE | SUBUNIT-C | MOUSE MODEL | IN-VIVO | BATTEN-DISEASE | HYDROPHOBIC PROTEIN | MITOCHONDRIAL ATP SYNTHASE | LARVAL ZEBRAFISH | NEURONAL CEROID-LIPOFUSCINOSIS | Neuronal Ceroid-Lipofuscinoses - enzymology | Serine Proteases - genetics | Motor Activity - physiology | Cell Proliferation | Humans | Aminopeptidases - physiology | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - deficiency | Serine Proteases - physiology | Neuronal Ceroid-Lipofuscinoses - pathology | Neuronal Ceroid-Lipofuscinoses - genetics | Serine Proteases - deficiency | Growth Inhibitors - genetics | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Disease Models, Animal | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - physiology | Aminopeptidases - genetics | Neurodegenerative Diseases - pathology | Growth Inhibitors - deficiency | Animals, Genetically Modified | Neurodegenerative Diseases - genetics | Zebrafish | Aminopeptidases - deficiency | Disease Progression | Animals | Growth Inhibitors - physiology | Neurodegenerative Diseases - enzymology
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11. Full Text Batten disease: Biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients
by Sheth, Jayesh and Mistri, Mehul and Bhavsar, Riddhi and Pancholi, Dhairya and Kamate, Mahesh and Gupta, Neerja and Kabra, Madhulika and Mehta, Sanjiv and Nampoothiri, Sheela and Thakker, Arpita and Jain, Vivek and Shah, Raju and Sheth, Frenny
BMC Neurology, ISSN 1471-2377, 12/2018, Volume 18, Issue 1, pp. 203 - 11
BackgroundNeuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal... 
PPT1 | TPP1 | Batten disease | Neuronal ceroid lipofuscinoses (NCL) | DIAGNOSIS | CLN2 | ENZYME | ASSAY | LINCL | DEFICIENCY | CLINICAL NEUROLOGY | NEURONAL CEROID-LIPOFUSCINOSIS | Metabolism, Inborn errors of | Nervous system | Neuronal ceroid-lipofuscinosis | Research | Analysis | Cerebellum | Enzymes | Thioesterase | Biochemical analysis | Peptidase | Disease | Genes | Epilepsy | Homology | Leukocytes | Gene deletion | Metabolism | Data bases | Proteins | Atrophy | Enzymatic activity | Clonal deletion | Neurodegeneration | Visual impairment | Point mutation | Neuronal ceroid lipofuscinosis | Mutation | Palmitoyl-(protein) hydrolase
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