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Neuronal Ceroid Lipofuscinosis:     more detail

Lysosomal Storage Diseases: Tay-Sachs Disease, Canavan Disease, Sly Syndrome, Neuronal Ceroid Lipofuscinosis, Mucopolysaccharidosis The dissection of a degenerative disease: Proceedings of four round-table conferences on the pathogenesis of Batten's disease (neuronal ceroid-lipofuscinosis) Lipofuscin and Ceroid Pigments (Advances in Experimental Medicine and Biology) Batten Disease: Diagnosis, Treatment, and Research, Volume 45 (Advances in Genetics) The Official Parent's Sourcebook on Batten Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18 Lipofuscin and Ceroid Pigments: State of the Art 1995 (Journal - Gerontology, , Vol 41, Suppl. 2) (Pt.2) Dogs help track down genes.(MEDICAL UPDATE: Cutting-edge news from a source you can trust)(Batten disease): An article from: Saturday Evening Post Batten disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Michelle lee Brandt, Rosalyn, MD Carson-Dewitt, 2005 Batten disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Michelle Brandt, 2005 Batten disease (SuDoc HE 20.3502:B 32) by U.S. Dept of Health and Human Services, 1992

lists with details

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
    
    Extractions: 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 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
    
    Extractions: 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.

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
    
    Extractions: 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.

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/
    
    Extractions: Human and Clinical Genetics - LUMC (Centrum voor Humane en Klinische Genetica) Neuronal Ceroid Lipofuscinosis 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/
    
    Extractions: 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 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

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
    
    Extractions: (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

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
    
    Extractions: 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

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
    
    Extractions: 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) 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
    
    Extractions: 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) 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
    
    Extractions: 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

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
    
    Extractions: 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 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

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
    
    Extractions: 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: Oxford University Press 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
    
    Extractions: 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. 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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