61. Disease Report For: Infantile Neuronal Ceroid Lipofuscinosis neuronal ceroid lipofuscinosis, infantile finnish type; NCL Title Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice http://bioweb.ensam.inra.fr/ESTHER/disease?name=Infantile neuronal ceroid lipofu

62. The Neuronal Ceroid Lipofuscinosis Cln8gene Expression Is Developmentally Regula Abstract Background The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by accumulation of http://bmc.ub.uni-potsdam.de/1471-2202-6-27/text.htm

Article mirrored from BioMed Central at 11am on May 03, 2005 BMC Neuroscience Volume 6 Full text PDF Research article The neuronal ceroid lipofuscinosis gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy Liina Lonka Antti Aalto Outi Kopra Mervi Kuronen Zaal Kokaia Mart Saarma and Anna-Elina Lehesjoki Neuroscience Center, University of Helsinki, Finland Institute of Biotechnology, University of Helsinki, Finland National Public Health Institute, Finland Laboratory of Neural Stem Cell Biology, Section of Restorative Neurology, Lund Strategic Research Center for Stem Cell Biology and Cell Therapy, University Hospital, Lund, Sweden BMC Neuroscience 27 doi:10.1186/1471-2202-6-27 The electronic version of this article is the complete one and can also be found online at: http://www.biomedcentral.com/1471-2202/6/27 Received 29 September 2004 Accepted 13 April 2005 Published 13 April 2005 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0

63. The Neuronal Ceroid Lipofuscinosis Cln8gene Expression Is Developmentally Regula Translate this page http://bmc.ub.uni-potsdam.de/1471-2202-6-27/

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64. Batten Disease Information Page: National Institute Of Neurological Disorders An Synonym(s) neuronal ceroid lipofuscinosis Condensed from Batten Disease Fact Sheet Get Web page suited for printing Email this to a friend or colleague http://www.ninds.nih.gov/disorders/batten/batten.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Batten Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Batten Disease NINDS Batten Disease Information Page Synonym(s): Neuronal Ceroid Lipofuscinosis Condensed from Batten Disease Fact Sheet Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Batten Disease? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Batten Disease? Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.

65. Arquivos De Neuro-Psiquiatria - Infantile neuronal ceroid lipofuscinosis ? 7 cases (Table 2). Clinical findings. Morphologic diagnosis in neuronal ceroid lipofuscinosis. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000400001

66. Science -- Sign In Classical lateinfantile neuronal ceroid lipofuscinosis (LINCL) is a fatal Feasibility of Gene Therapy for Late neuronal ceroid lipofuscinosis. http://www.sciencemag.org/cgi/content/short/277/5333/1802

You do not have access to this item: Abstract : Sleat et al., Association of Mutations in a Lysosomal Protein with Classical Late-Infantil..., Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription

67. Science -- Sign In Feasibility of Gene Therapy for Late neuronal ceroid lipofuscinosis. Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. http://www.sciencemag.org/cgi/content/abstract/277/5333/1802

You do not have access to this item: Abstract : Sleat et al., Association of Mutations in a Lysosomal Protein with Classical Late-Infantil..., Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription

68. Florida State University College Of Medicine Digital Library Patient/Family Resources by Topic Metabolic Disorders. neuronal ceroid lipofuscinosis Patient/Family Resources. Spanish Miscellaneous http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/lipoidosis/batt

Patient/Family Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Patient/Family Resources Spanish Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Neuronal Ceroid Lipofuscinosis Clinical Resources Batten Disease Support and Research Association Homepage Batten Disease Facts and Fictions: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Batten Disease: Access document MedlinePlus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Spanish MedlinePlus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Miscellaneous Neuronal Ceroid Lipofuscinosis Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Batten Disease: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents MedlinePlus (National Library of Medicine) Health Topics: Index Genetic Testing: List of documents Prenatal Testing: List of documents Genetic Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Batten Disease Additional Batten Disease resources ( These sites have not been reviewed.

69. Neuronal Ceroid Lipofuscinosis (CLN) Neuronal ceroidlipofuscinosis type 1 (CLN-1) Synonyms Hagberg-Santavuori disease (OMIM 256730) Neuronal ceroid-lipofuscinosis type 2 (CLN-2) Synonyms http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome484.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome neuronal ceroid lipofuscinosis (CLN) Synonym ceroid lipofuscinosis Summary Major Features Head and neck: Microcephaly. Eyes: Macular and retinal degeneration and pigmentary retinopathy. Spine: Kyphoscoliosis. Muscles: Hypotonia. Nervous system: Brain atrophy, granular inclusions, cerebellar lesions, neuronal degeneration, pyramidal and extrapyramidal symptoms, myoclonus epilepsy, ataxia, convulsions, deposits of neuronal ceroid lipofuscin in the central nervous system (curvilinear bodies), and neuronal granular osmiophilic deposits. Biochemical and metabolic features: Deposition of lipofuscin in neural perikaryon, hepatocytes, heart muscle, retina, conjunctiva, skin, and lymphocytes. Subunit c of ATP synthase is the major protein component of the storage bodies in CLN-2 and CLN-3. Ultrastructure of the stored material may appear as curvilinear bodies, fingerprint profile, or a mixture of both. Growth and development: Mental retardation, motor and speech retardation.

70. Neuronal Ceroid Lipofuscinosis - The Jackson Laboratory neuronal ceroid lipofuscinosis (nclf). nclf/nclf mice develop progressive ataxia defects, myelination defects, neurodegeneration, neuromuscular defects and http://www.jax.org/mmod/nclf.html

Retinal Degeneration Genes Cataracts Other Mouse Models Screening ... MMOD Home Neuronal ceroid lipofuscinosis ( nclf nclf/nclf mice develop progressive ataxia defects, myelination defects, neurodegeneration, neuromuscular defects and retinal degeneration. In homozygous nclf mice, the outer nuclear layer shows cell loss by four months after birth. By 6 months the peripheral outer retina is more severely affected, and by 9 months the entire retina is atrophied. Gene Mouse Chromosome Human Chromosome Retinal ONL disappear by Strains B6.Cg- nclf ; STOCK- a/a J nclf/nclf Supported by The National Eye Institute and the Foundation Fighting Blindness We encourage you to use original citations for original data whenever possible. Please cite data and unreferenced information found on this web site in the following format: B. Chang, N.L. Hawes, M.T. Davisson. Mouse Models for Ocular Disease Home Page. World Wide Web URL: http://www.jax.org/mmod/, the month and year when you retrieved the information. Research Research Resources Mouse Genome Informatics Courses and Educational Programs ... The Jackson Laboratory

71. Infantil Neuronal Ceroid-lipofuscinos - Små Och Mindre Kända Handikappgrupper The genetic spectrum of human neuronal ceroidlipofuscinosis. First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) PPT enzyme http://www.sos.se/smkh/1997-29-023/1997-29-023.htm

Socialstyrelsen 106 30 Stockholm Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Infantil neuronal ceroid-lipofuscinos INCL Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2004-11-03 HTML-version: 5.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan eller INCL. Symtom Diagnostik - DNA-analys av blodprov Praktiska tips Resurspersoner Kurser, erfarenhetsutbyte, rekreation info@srfriks.org

72. A CLN5 Mutation Causing An Atypical Neuronal Ceroid Lipofuscinosis Of Juvenile O A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. N. PinedaTrujillo, MSc , W. Cornejo, MD , J. Carrizosa, http://www.neurology.org/cgi/content/abstract/64/4/740

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Pineda-Trujillo, N. Related Collections Metabolic disease (inherited) Leukodystrophies NEUROLOGY 2005;64:740-742 American Academy of Neurology Brief Communications A mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset N. Pineda-Trujillo, MSc W. Cornejo, MD J. Carrizosa, MD R. B. Wheeler, PhD A. Valencia, BSc J. Agudelo-Arango, BSc A. Cogollo, MD G. Anderson, PhD G. Bedoya, MSc S. E. Mole, PhD and Address correspondence and reprint requests to Dr. Andres Ruiz-Linares, The Galton Laboratory, Department of Biology (Wolfson House), University College London, 4 Stephenson Way, London NW1 2HE, UK; e-mail: Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case

73. NIH Guide: NEURONAL CEROID LIPOFUSCINOSIS, INCLUDING BATTEN DISEASE RESEARCH OBJECTIVES The neuronal ceroid lipofuscinoses are a group of hereditary In addition, the PA title, ( neuronal ceroid lipofuscinosis, http://grants.nih.gov/grants/guide/pa-files/PA-96-065.html

Return to PA Index Return to NIH Guide Main Index Department of Health and Human Services National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892

74. Early Differential Diagnosis Of Infantile Neuronal Ceroid Lipofuscinosis, Rett S Early atrophy was found in infantile neuronal ceroid lipofuscinosis and in Krabbe disease, being more severe in the latter. The thalami were hyperdense in 4 http://www.ajnr.org/cgi/content/abstract/15/8/1443

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Vanhanen, S. L. Articles by Santavuori, P. ARTICLES Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR SL Vanhanen, R Raininko and P Santavuori Department of Child Neurology, University of Helsinki, Finland. PURPOSE: To compare early radiologic findings in three clinically similar progressive encephalopathies of childhood. METHODS: Brain CT and/or MR studies were done in 57 children 3 to 36 months of age: 16 with infantile neuronal ceroid lipofuscinosis, 5 with Rett syndrome, 6 with Krabbe disease, and 30 control subjects with normal neurologic status. In addition, previous descriptions in the literature were collected. RESULTS:

75. Neuronal Ceroid Lipofuscinosis neuronal ceroid lipofuscinosis. Used for. amaurotic familial idiocy. Used for. Batten disease. Used for. hereditary ceroid lipofuscinosis http://crisp.cit.nih.gov/Thesaurus/00005531.htm

Prev Term: neuronal cell body Next Term: neuronal circuitry neuronal ceroid lipofuscinosis Used for: amaurotic familial idiocy Used for: Batten disease Used for: hereditary ceroid lipofuscinosis Used for: Kufs disease Used for: Vogt Spielmeyer disease Broader Terms: inborn lipid storage disorder Broader Terms: mental retardation Scope Note: inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin. Term Number: Send your comments to: Melody Lowe

76. Lipid Thioesters Derived From Acylated Proteins Accumulate In Infantile Neuronal Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident http://www.pnas.org/cgi/content/abstract/93/19/10046

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Lu, J.-Y. Articles by Hofmann, S. L. Vol. 93, Issue 19, 10046-10050, September 17, 1996 Biochemistry Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: Correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase Jui-Yun Lu, Linda A. Verkruyse, and Sandra L. Hofmann Department of Internal Medicine and the Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75235-8593 Communicated by Joseph L. Goldstein, The University of Texas Southwestern Medical Center, Dallas, TX, July 9, 1996 (received for review June 18, 1996) Palmitoyl-protein thioesterase is a lysosomal long-chain fatty acyl hydrolase that removes fatty acyl groups from modified cysteine residues in proteins. Mutations in palmitoyl-protein

77. Disruption Of PPT1 Or PPT2 Causes Neuronal Ceroid Lipofuscinosis In Knockout Mic The neuronal ceroid lipofuscinoses (NCLs) are a distinct class of A Mouse Model of Classical LateInfantile neuronal ceroid lipofuscinosis Based on http://www.pnas.org/cgi/content/full/98/24/13566

November 20, 2001 This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles Search for citing articles in: ISI Web of Science (42) PubMed PubMed Citation Articles by Gupta, P. Articles by Hofmann, S. L. Biochemistry Disruption of or causes neuronal ceroid lipofuscinosis in knockout mice Praveena Gupta Abigail A. Soyombo Armita Atashband Krystyna E. Wisniewski John M. Shelton James A. Richardson Robert E. Hammer , and Sandra L. Hofmann The Hamon Center for Therapeutic Oncology Research and Division of Cardiology, Department of Internal Medicine, Departments of Pathology and Biochemistry, and the Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390; Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314; and State University of New York/Health Science Center, Brooklyn, NY 11203

78. Disruption Of PPT1 Or PPT2 Causes Neuronal Ceroid Lipofuscinosis In Knockout Mic The neuronal ceroid lipofuscinoses (NCLs) are a distinct class of lysosomal PPT, palmitoyl protein thioesterase. NCL, neuronal ceroid lipofuscinosis http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=1171742

79. The Gene Mutated In Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive Santavuori P (1988) neuronal ceroid lipofuscinosis in childhood. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=384927

80. A Mouse Model Of Classical Late-Infantile Neuronal Ceroid Lipofuscinosis Based O A Mouse Model of Classical LateInfantile neuronal ceroid lipofuscinosis Based on Targeted Disruption of the CLN2 Gene Results in a Loss of http://www.jneurosci.org/cgi/content/abstract/24/41/9117

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: The Journal of Neuroscience, October 13, 2004, 24(41):9117-9126; doi:10.1523/JNEUROSCI.2729-04.2004 This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (2) PubMed PubMed Citation Articles by Sleat, D. E. Articles by Lobel, P. Previous Article ... Next Article Neurobiology of Disease A Mouse Model of Classical Late-Infantile Neuronal Ceroid Lipofuscinosis Based on Targeted Disruption of the CLN2 Gene Results in a Loss of Tripeptidyl-Peptidase I Activity and Progressive Neurodegeneration David E. Sleat, Jennifer A. Wiseman, Mukarram El-Banna, Kwi-Hye Kim, Qinwen Mao, Sandy Price, Shannon L. Macauley, Richard L. Sidman

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