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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

1. 9th International Congress On Neuronal Ceroid Lipofuscinosis
   9 th International Congress on neuronal ceroid lipofuscinosis (Batten Disease).April 913, 2003 The Holiday Inn-City Centre Chicago, Illinois.  
   http://www.ncl2003.org/

2. Arch Neurol -- Page Not Found
   High levels of brain dolichols in neuronal ceroidlipofuscinosis and senescence. - Ng Ying Kin NM, Palo J, Haltia M, Wolfe LS J Neurochem 1983 May;40(5)1465-73. late infantile, and juvenile types of neuronal ceroid-lipofuscinosis (NCL). Very small amounts of  
   http://archneur.ama-assn.org/issues/v58n11/abs/nnt10000.html
   
   Extractions: The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

3. NIH Guide: NEURONAL CEROID LIPOFUSCINOSIS, INCLUDING BATTEN DISEASE
   Full Text PA96-065 neuronal ceroid lipofuscinosis, INCLUDING BATTEN DISEASE NIH GUIDE, Volume 25, Number 23, July 12, 1996 PA NUMBER PA-96-065 P.T.  
   http://grants2.nih.gov/Grants/guide/pa-files/PA-96-065.html

4. Neuronal Ceroid Lipofuscinosis (CLN)
   type of neuronal ceroidlipofuscinosis infantile neuronal ceroid-lipofuscinosis (INCL) polyunsaturated fatty acid  
   http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome484.html
   
   Extractions: 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.

5. 9th International Congress On Neuronal Ceroid Lipofuscinosis
   Biochemical and clinical improvements in a murine model of infantile neuronal ceroidlipofuscinosis following adenoassociated virus-mediated gene therapy. 910.  
   http://www.ncl2003.org/schedule.html

6. NIH Guide: NEURONAL CEROID LIPOFUSCINOSIS, INCLUDING BATTEN DISEASE
   Full Text PA96-065 neuronal ceroid lipofuscinosis, INCLUDING BATTEN DISEASE NIHGUIDE, Volume 25, Number 23, July 12, 1996 PA NUMBER PA-96-065 PT 34 Keywords  
   http://grants.nih.gov/grants/guide/pa-files/PA-96-065.html

7. Florida State University College Of Medicine Digital Library
   Miscellaneous neuronal ceroid lipofuscinosis Clinical Resources HealthReviews for Primary Care Providers on the Internet Homepage  
   http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/lipoidosis/batten.
   
   Extractions: Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Other MD Consult Reference Books: Table of contents Medical Library subscription INFO Neurology (eMedicine): Table of contents Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 16th Ed.-2000 (MD Consult):

8. Florida State University College Of Medicine Digital Library
   Disorders. neuronal ceroid lipofuscinosis Patient/Family Resources. Miscellaneous. NeuronalCeroid Lipofuscinosis Clinical Resources. Batten  
   http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/lipoidosis/batt
   
   Extractions: Patient/Family Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Patient/Family Resources Spanish Miscellaneous See also: National Institute of Neurological Disorders and Stroke: Homepage MEDLINE plus Medical Encyclopedia: Table of contents Spanish Miscellaneous Neuronal Ceroid Lipofuscinosis Patient/Family Resources Healthfinder (US DHHS): Homepage National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Metabolic Diseases

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

10. Nature Publishing Group
    Bronson, RT, Lake, BD, Cook, S., Taylor, S. Davisson, MT Motor neuron degenerationof mice is a model of neuronal ceroid lipofuscinosis (Batten's disease).  
    http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v23/n2/full/ng1099_2

11. CCHS Clinical Digital Library
    neuronal ceroid lipofuscinosis Clinical Resources. Neurology (eMedicine)Table of contents neuronal ceroid lipofuscinosis Access document.  
    http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/lipoidosis/batten.ht
    
    Extractions: Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Other MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO Neurology (eMedicine): Table of contents Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 16th Ed.-2000 (MD Consult):

12. HKMJ - Abstract
    Classic late infantile neuronal ceroid lipofuscinosis in a Chinesepatient. CH Ko, CK Kong, TC Chow, KC Lee Department of Paediatrics  
    http://www.hkmj.org.hk/hkmj/abstracts/v7n1/93.htm
    
    Extractions: Department of Paediatrics, Caritas Medical Centre, 111 Wing Hong Street, Shamshuipo, Hong Kong HKMJ 2001;7(1):93-6 Key words: Child, preschool; Convulsions/etiology; Electroencephalography; Magnetic resonance imaging; Neuronal ceroid-lipofuscinosis View this abstract indexed in MEDLINE: The Hong Kong Medical Journal is a continuation of the former Journal of the Hong Kong Medical Association.

13. Juvenile Battens Disease Information For GPs
    Juvenile Batten's Disease, also known or SpielmeyerVogt-Sjogren Diseaseis the juvenile onset form of neuronal ceroid lipofuscinosis.  
    http://www.seeability.org/randd/jbdoctors.htm
    
    Extractions: The group of diseases known as Batten's disease or the neuronal ceroid-lipofuscinoses are progressive degenerative metabolic diseases that occur in children and adults. The childhood forms of the disease are autosomal regressive and represent one of the largest groups of progressive neurodegenerative diseases in children. It has been suggested that they are the most common group of progressive neurodegenerative disorders of childhood in Western countries. The characteristic features of these diseases are retinal and brain atrophy and the accumulation, in neurons and other cells, of fluorescent storage bodies. These fluorescent storage bodies or lipopigments build up in cells within the brain, eye and other tissues, causing curvilinear-crescent shaped, fingerprint shaped and granual osmophilic shaped deposits that are recognisable under a light microscope. A number of different forms of NCL have been identified. The four main forms are:

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

15. Neurodegenetics DNA Diagnostic Laboratory
    Hyperkalemic Periodic Paralysis (HYPP); Hypokalemic Periodic Paralysis(HOPP). Infantile neuronal ceroid lipofuscinosis (INCL, CLN1);  
    http://www.mgh.harvard.edu/neuroDNAlab/neuroDNA_currenttestofferings.htm

16. Palmitoyl Protein Thioesterase: Implications For Infantile Neuronal Ceroid Lipof
    protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles inneurons implications for infantile neuronal ceroid lipofuscinosis (INCL).  
    http://www.uku.fi/neuro/ab0185.htm
    
    Extractions: U K U N E U R O S C I E N C E P U B L I C A T I O N S Lehtovirta M, Kyttälä A, Eskelinen EL, Hess M, Heinonen O, Jalanko A. Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL). Hum Mol Genet 2001;10:69-75 Abstract

17. Molecular Diagnosis Of Finnish Type Infantile Neuronal Ceroid Lipofuscinosis By
    I. Molecular diagnosis of Finnish type infantile neuronal ceroid lipofuscinosis byrestriction fragment lenght polymorphism and oligonucleotide ligation assay.  
    http://www.uku.fi/wwwdata/julkaisutoiminta/julkaisut/1998/9800941.html

18. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details
    Cystagon to Treat Infantile neuronal ceroid lipofuscinosis. This studyis currently recruiting patients. Sponsored by National Institute  
    http://www.clinicaltrials.gov/ct/gui/show/NCT00028262?order=11

19. ClinicalTrials.gov - Linking Patients To Medical Research: Results
    Search results for neuronal ceroid lipofuscinosis ALLFIELDS are shownbelow. Show all trials, including those no longer recruiting patients.  
    http://www.clinicaltrials.gov/search/term=Neuronal Ceroid Lipofuscinosis

20. CERF NEWS Jan 2000
    neuronal ceroid lipofuscinosis (NCL) is a hereditary, progressive, disease in dogsand humans, which commonly leads to blindness and other neurologic problems  
    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

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