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1. Full Text The neuronal ceroid-lipofuscinoses: A historical introduction
by Haltia, Matti and Goebel, Hans H
BBA - Molecular Basis of Disease, ISSN 0925-4439, 11/2013, Volume 1832, Issue 11, pp. 1795 - 1800
The neuronal ceroid-lipofuscinoses (Batten disease) collectively constitute one of the most common groups of inherited childhood onset neurodegenerative... 
Neuronal ceroid-lipofuscinosis | History | Neurodegeneration | Ageing | Batten disease | Molecular genetic classification | NORTHERN EPILEPSY | STORAGE | INFANTILE TYPE | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | BATTENS DISEASE | BIOPHYSICS | JANSKY-BIELSCHOWSKY DISEASE | AMAUROTIC FAMILY IDIOCY | MUTATION | MITOCHONDRIAL ATP SYNTHASE | DOMESTIC CAT | History, 19th Century | Neuronal Ceroid-Lipofuscinoses - genetics | Neuronal Ceroid-Lipofuscinoses - history | History, 20th Century | Humans | Neuronal Ceroid-Lipofuscinoses - pathology | Genetic research | Nervous system diseases | International cooperation | Neurons
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2. Full Text Participation of Autophagy in Storage of Lysosomes in Neurons from Mouse Models of Neuronal Ceroid-Lipofuscinoses (Batten Disease)
by Koike, Masato and Shibata, Masahiro and Waguri, Satoshi and Yoshimura, Kentaro and Tanida, Isei and Kominami, Eiki and Gotow, Takahiro and Peters, Christoph and von Figura, Kurt and Mizushima, Noboru and Saftig, Paul and Uchiyama, Yasuo
The American Journal of Pathology, ISSN 0002-9440, 2005, Volume 167, Issue 6, pp. 1713 - 1728
In cathepsin D-deficient (CD−/−) and cathepsins B and L double-deficient (CB−/−CL−/−) mice, abnormal vacuolar structures accumulate in neurons of the brains.... 
SUBUNIT-C | ALZHEIMERS-DISEASE | DEFICIENT | MICE | AMYLOID PRECURSOR PROTEIN | PATHOLOGY | MITOCHONDRIAL ATP SYNTHASE | PC12 CELLS | CATHEPSIN-D | EXPRESSION | CELL-DEATH | Cathepsin B - deficiency | Neurons - pathology | Cathepsin B - genetics | Cathepsin D - deficiency | Reverse Transcriptase Polymerase Chain Reaction | Autophagy | Neuronal Ceroid-Lipofuscinoses - pathology | Mice, Knockout | Freeze Fracturing | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Neurons - ultrastructure | Cathepsin D - genetics | Lysosomes - pathology | Mice | Genetic Carrier Screening | Disease Models, Animal | Index Medicus | Abridged Index Medicus | Original Research Paper
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3. Full Text Induced pluripotent stem cells derived from a CLN5 patient manifest phenotypic characteristics of neuronal ceroid lipofuscinoses
by Uusi-Rauva, Kristiina and Blom, Tea and Von Schantz-Fant, Carina and Blom, Tomas and Jalanko, Anu and Kyttälä, Aija
International Journal of Molecular Sciences, ISSN 1661-6596, 05/2017, Volume 18, Issue 5, p. 955
Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive progressive encephalopathies caused by mutations in at least 14 different genes. Despite... 
Sphingolipid | IPS cells | Lysosomal storage disease | NCL | CLN5 | HUMAN NEUROBLASTOMA-CELLS | ACTIVATION | PROTEIN | sphingolipid | lysosomal storage disease | BIOCHEMISTRY & MOLECULAR BIOLOGY | VARIANT | CHEMISTRY, MULTIDISCIPLINARY | iPS cells | CHOLESTEROL-METABOLISM | JANSKY-BIELSCHOWSKY DISEASE | ATP SYNTHASE | BATTEN-DISEASE | MUTATIONS | LATE INFANTILE NCL | Cell Lineage | Phenotype | Neuronal Ceroid-Lipofuscinoses - genetics | Membrane Proteins - genetics | Humans | Cells, Cultured | Cell Differentiation | Mutation | Induced Pluripotent Stem Cells - cytology | Neuronal Ceroid-Lipofuscinoses - pathology | Induced Pluripotent Stem Cells - metabolism | Animal models | Transcription | Genes | Abnormalities | Transportation models | Stem cell transplantation | Macrophages | Organelles | Diseases | ATP synthase | Mitochondria | Molecular modelling | Neurodegeneration | Rodents | Stem cells | Fibroblasts | Neuronal ceroid lipofuscinosis | Aberration | Adenosine triphosphatase | Pluripotency | Inhibitory postsynaptic potentials | Index Medicus
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4. Full Text Clinical, Electrophysiological, Imaging, and Ultrastructural Description in 68 Patients With Neuronal Ceroid Lipofuscinoses and Its Subtypes
by Jadav, Rakesh H., MD, DM|Sinha, Sanjib, MD, DM|Yasha, T.C., MD|Aravinda, H., MD, DM|Gayathri, N., PhD|Rao, S., MSc|Bindu, P.S., MD, DM|Satishchandra, P., DM
Pediatric Neurology, ISSN 0887-8994, 2014, Volume 50, Issue 1, pp. 85 - 95
Abstract Purpose We evaluated the clinical, electrophysiological, imaging, and ultrastructural features of neuronal ceroid lipofuscinoses and its subtypes.... 
Pediatrics | Neurology | histopathology | neuronal ceroid lipofuscinoses | skin | ultrastructure | MRI | NCL | DIAGNOSIS | NEURORADIOLOGICAL FINDINGS | DISORDERS | CLINICAL NEUROLOGY | DEGENERATION | FORMS | LATE-INFANTILE | PROGRESSIVE MYOCLONIC EPILEPSY | PEDIATRICS | BATTEN-DISEASE | EVOKED-POTENTIALS | Neuroimaging | Microscopy, Electron, Transmission | Brain - physiopathology | Humans | Muscle, Skeletal - ultrastructure | Child, Preschool | Evoked Potentials - physiology | Male | Electroencephalography | Neuronal Ceroid-Lipofuscinoses - physiopathology | Neuronal Ceroid-Lipofuscinoses - pathology | Phenotype | Adolescent | Brain - ultrastructure | Brain - pathology | Skin - ultrastructure | Female | Retrospective Studies | Muscle, Skeletal - pathology | Child | Skin - pathology | Neurons | Neurosciences | Index Medicus
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5. Full Text The neuronal ceroid lipofuscinoses: The same, but different?
by Cooper, Jonathan D
Biochemical Society Transactions, ISSN 0300-5127, 12/2010, Volume 38, Issue 6, pp. 1448 - 1452
The NCLs (neuronal ceroid lipofuscinoses) (also known as Batten disease) are a group of at least ten fatal inherited storage disorders Despite the... 
Lysosomal dysfunction | Lysosomal storage disorder (LSD) neuroimmune response | Selective neuron vulnerability | Batten disease | Neuronal ceroid lipofuscinosis (NCL) | lysosomal dysfunction | neuronil ceroid lipofuscinosis (NCL) | GLIAL ACTIVATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | selective neuron vulnerability | NEURODEGENERATION | DEFICIENT MICE | CLN6 | SOUTH HAMPSHIRE SHEEP | MURINE MODEL | lysosomal storage disorder (LSD) | MOUSE MODEL | BATTEN-DISEASE | NEUROPATHOLOGY | neuroimmune response | BRAIN | Brain - metabolism | Neurons - pathology | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Brain - anatomy & histology | Humans | Brain - pathology | Mice | Neuronal Ceroid-Lipofuscinoses - classification | Nerve Degeneration - pathology | Neuronal Ceroid-Lipofuscinoses - pathology | Disease Models, Animal | Index Medicus
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6. Full Text Deregulation of biometal homeostasis: The missing link for neuronal ceroid lipofuscinoses?
by Grubman, Alexandra and Pollari, Eveliina and Duncan, Clare and Caragounis, Aphrodite and Blom, Tea and Volitakis, Irene and Wong, Andrew and Cooper, Jonathan and Crouch, Peter J and Koistinaho, Jari and Jalanko, Anu and White, Anthony R and Kanninen, Katja M
Metallomics, ISSN 1756-5901, 2014, Volume 6, Issue 4, pp. 932 - 943
Neuronal ceroid lipofuscinoses (NCLs), a group of genetically distinct fatal neurodegenerative disorders with no treatment or cure, are clinically... 
BRAIN GENE-EXPRESSION | METALLOTHIONEIN | ALZHEIMERS-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | NITRIC-OXIDE | BATTEN-DISEASE | CELLULAR ZINC | KNOCKOUT MICE | PROTEIN THIOESTERASE | CLN5 | Metallothionein - metabolism | Metals, Heavy - metabolism | Molecular Chaperones - metabolism | Membrane Glycoproteins - metabolism | Zinc - metabolism | Homeostasis | Neuronal Ceroid-Lipofuscinoses - pathology | Brain - metabolism | Cobalt - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Copper - metabolism | Transcription, Genetic | Disease Models, Animal | Molecular Chaperones - genetics | Neuronal Ceroid-Lipofuscinoses - metabolism | Iron - metabolism | Membrane Glycoproteins - genetics | Mice, Knockout | Animals | Manganese - metabolism | Metallothionein - genetics | Brain - pathology | Mice | Thiolester Hydrolases - genetics | Thiolester Hydrolases - metabolism | Index Medicus
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7. Full Text A Rare Dementing Disease: Adult Neuronal Ceroid Lipofuscinoses
by Babacan-Yildiz, Gulsen and Hanagasi, Hasmet and Gurvit, Hakan and Sirin, Gorkem and Solakoglu, Seyhun and Kucuk, Ozlem Su
The Journal of Neuropsychiatry and Clinical Neurosciences, ISSN 0895-0172, 10/2012, Volume 24, Issue 4, pp. 493 - 498
To emphasize the importance of clinical and ultrastructural findings for diagnosing adult neuronal ceroid lipofuscinosis (ANCL), the authors retrospectively... 
DIAGNOSIS | PSYCHIATRY | KUFS-DISEASE | DOMINANT FORM | CLASSIFICATION | INFANTILE | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | SEIZURES | EARLY-ONSET DEMENTIA | MUTATIONS | BRAIN | Diagnosis, Differential | Dementia - pathology | Humans | Middle Aged | Dementia - diagnosis | Male | Neuronal Ceroid-Lipofuscinoses - pathology | Magnetic Resonance Imaging | Brain - pathology | Adult | Female | Retrospective Studies | Neuronal Ceroid-Lipofuscinoses - diagnosis | Index Medicus
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8. Full Text Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6
by Cannelli, Natalia and Garavaglia, Barbara and Simonati, Alessandro and Aiello, Chiara and Barzaghi, Chiara and Pezzini, Francesco and Cilio, Maria Roberta and Biancheri, Roberta and Morbin, Michela and Bernardina, Bernardo Dalla and Granata, Tiziana and Tessa, Alessandra and Invernizzi, Federica and Pessagno, Alice and Boldrini, Renata and Zibordi, Federica and Grazian, Luisa and Claps, Dianela and Carrozzo, Rosalba and Mole, Sara E and Nardocci, Nardo and Santorelli, Filippo M
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 2009, Volume 379, Issue 4, pp. 892 - 897
The neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders with typical autofluorescence material stored in tissues. Ten clinical... 
v-LINCL | Mutation scanning | Autophagy | CLN6 | LYSOSOMAL STORAGE DISEASE | BIOPHYSICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSMEMBRANE PROTEIN | Membrane Proteins - genetics | Humans | Child, Preschool | Male | Neuronal Ceroid-Lipofuscinoses - pathology | Lysosomes - ultrastructure | Young Adult | Neuronal Ceroid-Lipofuscinoses - genetics | Adolescent | Female | Autophagy - genetics | Mutation | Child | Cohort Studies | Fluorescence | Medical colleges | Genetic aspects | Children | Health aspects | Index Medicus
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9. Full Text Accelerated Lipofuscinosis and Ubiquitination in Granulin Knockout Mice Suggest a Role for Progranulin in Successful Aging
by Ahmed, Zeshan|Sheng, Hong|Xu, Ya-fei|Lin, Wen-Lang|Innes, Amy E.|Gass, Jennifer|Yu, Xin|Hou, Harold|Chiba, Shuichi|Yamanouchi, Keitaro|Leissring, Malcolm|Petrucelli, Leonard|Nishihara, Masugi|Hutton, Michael L.|McGowan, Eileen|Dickson, Dennis W.|Lewis, Jada
American Journal of Pathology, The, ISSN 0002-9440, 2010, Volume 177, Issue 1, pp. 311 - 324
Progranulin (PGRN) is involved in wound repair, inflammation, and tumor formation, but its function in the central nervous system is unknown. Roles in... 
Pathology | SAMP10 MOUSE | INCLUSIONS | EPITHELIN PRECURSOR | BRAIN-INJURY | GENE-EXPRESSION | DEFICIENT MICE | MUTATIONS | NEUROPATHOLOGY | PATHOLOGY | FRONTOTEMPORAL LOBAR DEGENERATION | DNA-BINDING PROTEIN-43 | Brain - cytology | Humans | Intercellular Signaling Peptides and Proteins - genetics | Ubiquitin - metabolism | Neuronal Ceroid-Lipofuscinoses - metabolism | Neurons - cytology | Neuronal Ceroid-Lipofuscinoses - pathology | Mice, Knockout | Brain - metabolism | Intercellular Signaling Peptides and Proteins - metabolism | Ubiquitination | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Aging - physiology | Brain - pathology | Mice | Neurons - metabolism | Index Medicus | Abridged Index Medicus | Regular
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10. Full Text Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits
by Schultheis, Patrick J and Fleming, Sheila M and Clippinger, Amy K and Lewis, Jada and Tsunemi, Taiji and Giasson, Benoit and Dickson, Dennis W and Mazzulli, Joseph R and Bardgett, Mark E and Haik, Kristi L and Ekhator, Osunde and Chava, Anil Kumar and Howard, John and Gannon, Matt and Hoffman, Elizabeth and Chen, Yinhuai and Prasad, Vikram and Linn, Stephen C and Tamargo, Rafael J and Westbroek, Wendy and Sidransky, Ellen and Krainc, Dimitri and Shull, Gary E
Human Molecular Genetics, ISSN 0964-6906, 05/2013, Volume 22, Issue 10, pp. 2067 - 2082
Mutations in ATP13A2 (PARK9), encoding a lysosomal P-type ATPase, are associated with both Kufor-Rakeb syndrome (KRS) and neuronal ceroid lipofuscinosis (NCL).... 
Neuronal Ceroid-Lipofuscinoses - enzymology | Dopaminergic Neurons - pathology | Humans | Parkinsonian Disorders - enzymology | Neuronal Ceroid-Lipofuscinoses - pathology | Aging - pathology | Behavior, Animal | Brain - metabolism | Membrane Proteins | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Aging - genetics | Parkinsonian Disorders - pathology | Adenosine Triphosphatases | Mice, Mutant Strains | Dopaminergic Neurons - metabolism | Brain - pathology | Parkinsonian Disorders - genetics | Mice | alpha-Synuclein - genetics | alpha-Synuclein - metabolism | Aging - metabolism | Feedback, Sensory | Index Medicus
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11. Full Text Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
by Nosková, Lenka and Stránecký, Viktor and Hartmannová, Hana and Přistoupilová, Anna and Barešová, Veronika and Ivánek, Robert and Hůlková, Helena and Jahnová, Helena and van der Zee, Julie and Staropoli, John F and Sims, Katherine B and Tyynelä, Jaana and Van Broeckhoven, Christine and Nijssen, Peter C.G and Mole, Sara E and Elleder, Milan and Kmoch, Stanislav
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and... 
DOMAIN | CHAPERONE COMPLEX | PALMITOYLATION | FORM | KUFS-DISEASE | COLOCALIZATION | GENETICS & HEREDITY | DEFICIENCY | CSP-ALPHA | DEGENERATION | Neurons - pathology | Humans | Molecular Sequence Data | Male | Neuronal Ceroid-Lipofuscinoses - pathology | Brain - metabolism | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Neurons - ultrastructure | Base Sequence | Brain - ultrastructure | Adult | Female | Neurons - metabolism | Genetic Linkage | Gene Dosage - genetics | HSP40 Heat-Shock Proteins - genetics | Lipoylation | Membrane Proteins - genetics | Gene Expression Regulation | Exons - genetics | Mutation - genetics | Sequence Analysis, DNA | Protein Transport | Lysosomes - ultrastructure | Pedigree | Age of Onset | Brain - pathology | Family | Genes, Dominant - genetics | Neuronal Ceroid-Lipofuscinoses - epidemiology | Chromosome Segregation - genetics | Neuronal ceroid-lipofuscinosis | Usage | Linkage (Genetics) | Analysis | Causes of | Genetic aspects | Diagnosis | Nucleotide sequencing | Gene expression | Proteins | Tissue | Mutation | Cells | Neurological disorders | Index Medicus | Neuroprotection | Deposits | Neurodegenerative diseases | Amino acids | Peptide mapping | Protein folding | Neuronal ceroid lipofuscinosis | Gene mapping | Protein interaction | Age | Linkage analysis
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12. Full Text Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis
by Ward, Michael E and Chen, Robert and Huang, Hsin-Yi and Ludwig, Connor and Telpoukhovskaia, Maria and Taubes, Ali and Boudin, Helene and Minami, Sakura S and Reichert, Meredith and Albrecht, Philipp and Gelfand, Jeffrey M and Cruz-Herranz, Andres and Cordano, Christian and Alavi, Marcel V and Leslie, Shannon and Seeley, William W and Miller, Bruce L and Bigio, Eileen and Mesulam, Marek-Marsel and Bogyo, Matthew S and Mackenzie, Ian R and Staropoli, John F and Cotman, Susan L and Huang, Eric J and Gan, Li and Green, Ari J
Science Translational Medicine, ISSN 1946-6234, 04/2017, Volume 9, Issue 385, pp. eaah5642 - eaah5642
Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of... 
MEDICINE, RESEARCH & EXPERIMENTAL | PROTEIN-LEVELS | NEUROINFLAMMATION | DEFICIENT FTLD | INFLAMMATION | FRONTOTEMPORAL DEMENTIA | MUTATION | NEURODEGENERATION | MICE | OUTGROWTH | SORTILIN | CELL BIOLOGY | Frontal Lobe - ultrastructure | Frontotemporal Dementia - genetics | Haploinsufficiency - genetics | Retina - metabolism | Frontal Lobe - metabolism | Humans | Cells, Cultured | Intercellular Signaling Peptides and Proteins - genetics | Lysosomes | Neuronal Ceroid-Lipofuscinoses - metabolism | Microscopy, Electron | Mutation - genetics | Neuronal Ceroid-Lipofuscinoses - pathology | Haploinsufficiency - physiology | Frontotemporal Dementia - metabolism | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Retina - ultrastructure | Heterozygote | Mice | Intercellular Signaling Peptides and Proteins - deficiency | Frontotemporal Dementia - pathology | Index Medicus
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