21. Entrez PubMed The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Lonka L, Kyttala A, Ranta S, Jalanko A, Lehesjoki AE. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

22. CERF NEWS Jan 2000 neuronal ceroid lipofuscinosis (NCL) is a hereditary, progressive, disease in dogs and humans, which commonly leads to blindness and other neurologic http://www.vmdb.org/jan00.html

CANINE EYE REGISTRATION FOUNDATION Jan, 2000 INSIDE STAFF NOTES DX SPOTLIGHT UPDATES STAFF NOTES There have been many questions recently regarding the comparison of Optigen and CERF's information with regards to PRA in Labs. It is important that one does not try to simply do a direct comparison of these two sets of numbers. Due to many factors these two sets of statistics will not match. For more information about this please see the article on OptiGen's web site at www.optigen.com DX SPOTLIGHT Neuronal Ceroid Lipofusinosis Julie Gionfriddo DVM, MS, DACVO ACVO Genetics Committee/CERF Liaison Neuronal Ceroid Lipofuscinosis (NCL) is a hereditary, progressive, disease in dogs and humans, which commonly leads to blindness and other neurologic problems and can lead to premature death. It is a lipid storage disease, meaning that affected individuals have an abnormal ability to store fat-associate pigments (lipopigments) in their bodies. Many biochemical defects have been implicated in these lipid storage diseases. NCL causes degeneration of the retina and usually affects the central nervous system (the brain) as well. NCL has been described in several breeds including the English setter, dalmatian, Border collie, Tibetan terrier, Polish Owczarek Nizinni (PON), and the miniature schnauzer.1 The hereditary mechanism by which this disease is transferred has been determined in only the English setter breed. In that breed it is inherited as an autosomal recessive trait.2

23. Santavuori Disease,CLN1,INCL,Infantile Neuronal Ceroid Santavuori Disease,CLN1,INCL,Infantile neuronal ceroid lipofuscinosis,neuronal ceroid lipofuscinosis Type 1,Infantile Type neuronal ceroid lipofuscinosis http://www.icomm.ca/geneinfo/santavori.htm

24. Kufs Disease Generalized Lipofuscinosis; neuronal ceroid lipofuscinosis, Adult Type of disorders (neuronal ceroid lipofuscinoses NCL) that are differentiated http://my.webmd.com/hw/raising_a_family/nord349.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Kufs Disease Important It is possible that the main title of the report Kufs Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Adult-Onset Ceroidosis Amaurotic Familial Idiocy, Adult Ceroid-Lipofuscinosis, Adult form Generalized Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Type Disorder Subdivisions None General Discussion Kufs Disease is characterized by neurologic symptoms that may mimic mental illness, movement malfunction, and problems with sight. Kufs Disease is linked to excess accumulations of pigments (lipofuscins) dissolved in fat tissues that are found throughout the central nervous system. Kufs Disease, Batten Disease, Bielchowsky Disease, and Santavuori-Haltia Disease are different forms of the same family of disorders (neuronal ceroid lipofuscinoses [NCL]) that are differentiated by the age of onset. The various forms of this disorder are often extremely difficult to differentiate from other progressive degenerative diseases of the central nervous system. Resources National Tay-Sachs and Allied Diseases Association, Inc.

25. Santavuori Disease CLN1; INCL; Infantile neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis Type 1; Infantile Type neuronal ceroid lipofuscinosis http://my.webmd.com/hw/health_guide_atoz/nord1090.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Santavuori Disease Important It is possible that the main title of the report Santavuori Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms INCL Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Type 1 Infantile Type Neuronal Ceroid Lipofuscinosis Infantile Finnish Type Neuronal Ceroid Lipofuscinosis (Balkan Disease) Santavuori-Haltia Disease Disorder Subdivisions None General Discussion Santavuori Disease, an extremely rare inherited disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These diseases share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Santavuori Disease is considered the infantile form of the neuronal ceroid lipofuscinoses. Resources Vaincre Les Maladies Lysosomales 9 Place du 19 Mars 1962

26. Human And Clinical Genetics, LUMC - Neuronal Ceroid Lipofuscinosis Our group working on neuronal ceroid lipofuscinosis (NCL) consists of New mutations in the neuronal ceroid lipofuscinosis genes. http://www.humgen.nl/NCL/

Human and Clinical Genetics - LUMC (Centrum voor Humane en Klinische Genetica) Neuronal Ceroid Lipofuscinosis Our group working on neuronal ceroid lipofuscinosis (NCL) consists of: Dr. Peter Taschner : group leader Drs. Gert de Voer : Ph.D. student Ing. Paola van der Bent : technician Introduction The neuronal ceroid lipofuscinoses (NCL) are worldwide the most common lysosomal storage disorders of childhood. Clinical features often include progressive visual impairment, seizures, psychomotor deterioration, dementia, and a premature death. Most NCL cases are caused by mutations in the CLN1, CLN2 and CLN3 genes, which play an essential role in lysosomal protein degradation. Our initial NCL research started in 1992 and concentrated on the genetic analysis of families suffering from juvenile NCL. These studies have resulted in the identification of the CLN3 gene and the development of reliable molecular diagnostics for juvenile NCL. The molecular diagnostics was later extended to include the other forms of NCL and transferred to our Clinical Molecular Genetics Laboratory . Currently, our research focuses on the development and use of

27. UCL Eprints - Turkish Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN One variant form of late infantile neuronal ceroid lipofuscinosis (LINCL) is found predominantly within the Turkish population (CLN7). http://eprints.ucl.ac.uk/archive/00000412/

UCL Eprints Home Browse Search Register ... Library Services Navigation Home Browse Search Register ... Help Mitchell, W.A. and Wheeler, R.B. and Sharp, J.D. and Bate, S.L. and Gardiner, R.M. and Ranta, U.S. and Lonka, L. and Williams, R.E. and Lehesjoki, A.-E. and Mole, S.E. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. European Journal of Paediatric Neurology Supplement A . ISSN Abstract Type: Article Status: Published Refereed: Yes Keywords: alleles, child, child preschool, chromosome mapping, DNA mutational analysis, DNA primers, family health, haplotypes, homozygote, humans, infant, *linkage (genetics), microsatellite repeats, neuronal ceroid-lipofuscinosis, *genetics (GE), research support, non-U.S. government, Turkey UCL Eprints classification: UCL Departments and Research Centres Faculty of Clinical Sciences Department of Paediatrics and Child Health Deposited on: 07 April 2005 Archive Staff Only: edit this record Library Services - University College London - Gower Street - London - WC1E 6BT library@ucl.ac.uk

28. Juvenile Neuronal Ceroid Lipofuscinosis - Information & News The aberrant protein that causes juvenile Batten disease, a fatal neurodegenerative disorder of childhood, also plays a key role in normal cell function, http://www.news-medical.net/?keyword=Juvenile neuronal ceroid lipofuscinosis

29. JAX®Mice Database - Mouse/Human Gene Homologs: Infantile Neuronal Ceroid Lipofu Gene Homologs Infantile neuronal ceroid lipofuscinosis List. Area is Mouse/Human Gene Homologs Infantile neuronal ceroid lipofuscinosis http://jaxmice.jax.org/jaxmicedb/html/model_1567.shtml

Strain Information Services Information JAX Mice Literature Order Mice ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Infantile neuronal ceroid lipofuscinosis" Strains Newly Available for all Mouse/Human Gene Homologs models. Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. a a op /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. (3 stocks) Back to top Back to Top Research Research Resources ... The Jackson Laboratory

30. Tab004mgu: Genetics Of The Neuronal Ceroid Lipofuscinoses (NCLs) (1991) Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics 9, 170173, PubMed. 91 Vesa, J. et al. http://www-ermm.cbcu.cam.ac.uk/99001386h.htm

Expert Reviews in Molecular Medicine: http://www.expertreviews.org/ Accession information: (99)00138-6h.htm (shortcode: tab004mgu); 10 December 1999 Reprint/PDF version Back to main article Genetics of the neuronal ceroid lipofuscinoses (NCLs) Louise Bate and Mark Gardiner Author contact details Table 4. Genetics of the neuronal ceroid lipofuscinoses (NCLs) (tab004mgu) Type of NCL Age of onset and Refs Infantile GROD ; 1p32; lysosomal palmitoyl-protein thioesterase (PPT), which removes lipid from proteins during their degradation. Late infantile (classical) CVB Finnish late infantile Variant late infantile FPP or CVB Turkish variant late infantile FPP or CVB Late infantile with GROD ; 1p32; lysosomal PPT, which removes lipid from proteins during their Juvenile Variant juvenile Progressive epilepsy with mental retardation FPP or CVB or GROD Abbreviations used: CVB = curvilinear body; FPP = fingerprint profile; GROD = granular osmophillic deposits. References cited in Table 4 PubMed PubMed PubMed PubMed ... Cambridge University Press ISSN 1462-3994 Editorial Office: Centre for Applied Research in Educational Technologies (CARET) , 1st Floor, 16 Mill Lane, Cambridge, CB2 1SB, UK. Tel: +44 (0)1223 765 375; Fax: +44(0)1223 765 505; E-mail:

31. NORD - National Organization For Rare Disorders, Inc. Infantile neuronal ceroid lipofuscinosis (INCL). At this time, there is no effective treatment available for this genetic disease, which is the infantile http://www.rarediseases.org/nord/research/infantile

Database Subscriptions Many libraries, schools, universities, and hospitals subscribe to NORD's Rare Disease Database for unlimited access to reports on more than 1,150 diseases. Index of Rare Diseases This is the list of diseases currently covered in the Rare Disease Database. Rare Disease Database Search this database for reports on more than 1,150 diseases. View sample report Index of Organizations This is the list of organizations in NORD's Organizational Database. Organizational Database Read about more than 2,000 patient organizations and other sources of help. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. Research Infantile Neuronal Ceroid Lipofuscinosis (INCL) At this time, there is no effective treatment available for this genetic disease, which is the infantile form of a group of progressive, neurometabolic diseases. Doctors at the NIH currently are enrolling children between six months and two years of age for participation in a clinical study of the drug Cystagon for INCL. The study takes place at the NIH in Bethesda, Md. All study-related tests and medicines are provided free of charge. For more information about this National Institutes of Health (NIH) study, go to

32. Short Description Of Cell Lines. Pathology: Amaurotic Family Idiocy, Juvenile Ty Version 4.200205. Short description of cell lines. Pathology amaurotic family idiocy, juvenile type/neuronal ceroid lipofuscinosis http://www.biotech.ist.unige.it/cldb/pat269.html

Version Short description of cell lines. Pathology: amaurotic family idiocy, juvenile type/neuronal ceroid lipofuscinosis OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

33. Neuronal Ceroid Lipofuscinosis - Type II (Late Infantile Form) 1 Wisniewski, Krystyna E. MD, Ph.D. Neuronal CeroidLipofuscinoses. www.genetests.org. Updated 27 January 2004. http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_ncl2.asp

var factSheetURL = document.location; We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. Genzyme Corporate Search Contact Us Genzyme Websites Lyso Learning All Genzyme sites About Lysosomal Storage Disorders Disease Classification Disease Management var pageTitle="Neuronal Ceroid Lipofuscinosis - Type II (Late Infantile Form)"; var teaserText = "Progressive accumulation of lipofuscins (lipopigments) in cells of the central nervous system, liver, muscle, blood vessels, skin, eyes, and lymphocytes."; Neuronal Ceroid Lipofuscinosis - Type II (Late Infantile Form) Also known as: Jansky-Bielschowsky Disease Metabolic defect: deficiency of the acid protease tri-peptidyl-peptidase (TPP-1) Other cholesterol degradation/transport diseases: neuronal ceroid lipofuscinosis: type I type III type IV Current page: Neuronal ceroid lipofuscinosis - type II Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I

34. Neuronal Ceroid Lipofuscinosis - Type I (Infantile Form) Current page. neuronal ceroid lipofuscinosis type I. Select Another Disease Wisniewski, Krystyna E. MD, Ph.D. Neuronal Ceroid-Lipofuscinoses. http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_ncl1.asp

var factSheetURL = document.location; We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. Genzyme Corporate Search Contact Us Genzyme Websites Lyso Learning All Genzyme sites About Lysosomal Storage Disorders Disease Classification Disease Management var pageTitle="Neuronal Ceroid Lipofuscinosis - Type I (Infantile Form)"; var teaserText = "Progressive accumulation of lipofuscins (lipopigments) in cells of the central nervous system, liver, muscle, blood vessels, skin, eyes, and lymphocytes."; Neuronal Ceroid Lipofuscinosis - Type I (Infantile Form) Metabolic defect: palmitoyl-protein thioesterase deficiency Other cholesterol degradation/transport diseases: neuronal ceroid lipofuscinosis: type II type III type IV Current page: Neuronal ceroid lipofuscinosis - type I Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I

35. NEJM -- Case 27-2002: Late-Onset Infantile Neuronal Ceroid Lipofuscinosis Lateonset infantile neuronal ceroid lipofuscinosis was diagnosed. The approach to confirming this diagnosis is puzzling. http://content.nejm.org/cgi/content/short/348/21/2159

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 348:2159 May 22, 2003 Number 21 Next Case 27-2002: Late-Onset Infantile Neuronal Ceroid Lipofuscinosis Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF PDA Full Text Add to Personal Archive ... PubMed Citation To the Editor: Rust and Karluk (Aug. 29 issue) discuss the case of a child with a neurodegenerative disorder who was found to have curvilinear lysosomal inclusion bodies on electron-micrographic analysis of a muscle-biopsy specimen. Late-onset infantile neuronal ceroid lipofuscinosis was diagnosed. The approach to confirming this diagnosis is puzzling. The authors mention that subsequent molecular testing for the two common mutations of failed to identify a mutation, but no enzyme testing was performed. Given that only 66 percent of patients with a clinical diagnosis of late-onset infantile neuronal ceroid lipofuscinosis are found to have mutations in Full Text of this Article HOME SEARCH CURRENT ISSUE ... HELP Comments and questions? Please

36. NEJM -- Sign In Genet Test 2000;4243248.CrossRefISIMedline; Zhong N, Moroziewicz DN, Ju W, et al. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. http://content.nejm.org/cgi/content/full/348/21/2159

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Access to this article requires sign-in. Subscribers have access to all content. Other registered users have access to research articles six months old and older. If you're a registered user or an activated subscriber SIGN IN User Name Password Forgot your Password? Click here and we'll e-mail it to you. If you do not use cookies, sign in here. Remember my User Name and Password. Log in via Athens. PURCHASE THIS ARTICLE Purchase a single article and get immediate online access for just $10. If you're a subscriber but have not yet activated your full online access If you'd like to purchase a subscription to NEJM If you're not a subscriber and want FREE limited access... ACTIVATE YOUR SUBSCRIPTION Subscribers to NEJM are entitled to full access to all online content and features, including 20 FREE online CME exams. OR Receive full access to ALL current content and online features including Personal Archives, PDF article downloads, PDA access, E-mail alerts and 20 FREE online CME exams. OR Receive FREE online access to NEJM Original and Special Articles 6 months after publication and choose to receive the Table of Contents and notification of early release articles via e-mail.

37. Findis.org Infantile neuronal ceroid lipofuscinosis. Genes Palmitoyl protein thioesterase 1 (PPT1). Incidence in Finland 1/14 000. Number of Finnish Patients 150 http://www.findis.org/main.php?action=info&info=disease&disease_name=Infantile n

38. Juvenile Neuronal Ceroid Lipofuscinosis 20Jul-00 Infantile neuronal ceroid lipofuscinosis. http://www.mgh.harvard.edu/children/prof/Neurology handouts/ceroid talk sims.htm

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39. The Neuronal Ceroid Lipofuscinosis CLN8 Membrane Protein Is A Resident Of The En The neuronal ceroid lipofuscinoses (NCLs) comprise a group of inherited 1 Santavuori, P. (1998) Neuronal ceroidlipofuscinosis in childhood. http://hmg.oxfordjournals.org/cgi/content/full/9/11/1691

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted 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 (27) Request Permissions PubMed PubMed Citation Articles by Lonka, L. Articles by Lehesjoki, A.-E. Human Molecular Genetics, 2000, Vol. 9, No. 11 Oxford University Press The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum Liina Lonka Susanna Ranta Anu Jalanko and Anna-Elina Lehesjoki Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland and National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland Received 29 March 2000; Revised and Accepted 5 May 2000.

40. Mutations In Classical Late Infantile Neuronal Ceroid Lipofuscinosis Disrupt Tra Classical late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2 gene resulting in functional http://hmg.oxfordjournals.org/cgi/content/abstract/13/20/2483

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Human Molecular Genetics Advance Access originally published online on August 18, 2004 Human Molecular Genetics 2004 13(20):2483-2491; doi:10.1093/hmg/ddh264 This Article Full Text Full Text (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Request Permissions PubMed PubMed Citation Articles by Steinfeld, R. Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes Robert Steinfeld Hans-Bertram Steinke Dirk Isbrandt and Department of Pediatrics, University Hospital Eppendorf, Hamburg, Germany and Centre of Molecular Neurobiology (ZMNH), University of Hamburg, Hamburg, Germany Received June 24, 2004;

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