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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. Batten Disease
    Santavuori as your search term in the Rare Disease Database.) JanskyBielschowsky Disease is the late infantile form of neuronal ceroid lipofuscinosis (NCF).  
    http://www.bchealthguide.org/kbase/nord/nord259.htm
    
    Extractions: It is possible that the main title of the report 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. Information on the following diseases can be found in the Related Disorders section of this report: Batten Disease is the juvenile form of a group of progressive neurological diseases known as neuronal ceroid lipofuscinoses (NCL). It is characterized by accumulation of a fatty substance (lipopigment) in the brain as well as in tissue that does not contain nerve cells. This lipopigment storage disorder is inherited, and is marked by rapidly progressive vision failure (optic atrophy), and neurological disturbances, which may begin before eight years of age. Occurring mostly in families of Northern European Scandinavian ancestry, the disorder affects the brain and may cause both deterioration of intellect and neurological functions.

22. Neuronal Ceroid Lipofuscinosis - General Practice Notebook
    neuronal ceroid lipofuscinosis. Batten s syndrome is a recessively inherited neurodegenerative condition involving a lysosomal storage defect.  
    http://www.gpnotebook.co.uk/cache/2120941619.htm
    
    Extractions: neuronal ceroid lipofuscinosis Batten's syndrome is a recessively inherited neurodegenerative condition involving a lysosomal storage defect. It is caused by abnormal storage of cerebral lipofuscins. There are a number of other names that are used to refer to this condition, depending on the age of onset: In addition this condition is sometimes known as familial amaurotic familial idiocy or as lipofuscinosis. The gene involved in this syndrome is on chromosome 16.

23. NEJM -- Sign In
    Correspondence from The New England Journal of Medicine Case 272002 Late-Onset 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. 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.

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

25. The Neuronal Ceroid Lipofuscinoses (NCLs)
    9th International Congress on neuronal ceroid lipofuscinosis (Batten Disease). 9th International Congress on neuronal ceroid lipofuscinosis (Batten Disease).  
    http://www.ucl.ac.uk/paediatrics/ncls.htm
    
    Extractions: The neuronal ceroid lipofuscinoses (NCLs) Mutations in at least eight genes are now known or predicted to cause NCL, a group of neurodegenerative disorders of children. The human NCL research group is led by Dr Sara Mole. Postdoctoral research fellow Dr Sandra Codlin joined the team in October 2002 to use the fission yeast Schizosaccharomyces pombe as a unicellular model system for NCL and PhD student Morwenna Porter continued work on the nematode worm model which has a simple nervous system. Dr Hannah Mitchison continues work on the mouse model. Late infantile NCL – CLN6 Following on from the identification of as a 311 amino acid protein predicted to sit in a membrane, in total fourteen mutations that cause disease were delineated. Work continued to focus on the biology of CLN6 in collaboration with Prof Dan Cutler of the MRC-LMCB, UCL. Antisera was raised against synthetic peptides from two locations in the protein. All antisera bound to a protein in the endoplasmic reticulum (ER) of HEK293 cells and no significant colocalisation was seen with markers for other organelles such as the ER-Golgi intermediate compartment, the Golgi apparatus, early endosomes or lysosomes. This indicates that CLN6 is a resident protein of the ER. All antisera recognized a 30 kDa protein on western blotting, with one looking particularly promising for the development of a screening assay for patients with variant late infantile NCL carrying mutations in the

26. Untitled Document
    1998. Mutations in the palmitoylprotein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.  
    http://www.ucl.ac.uk/paediatrics/SaraMole.htm
    
    Extractions: Senior Lecturer in Molecular Genetics The neuronal ceroid lipofuscinoses (NCL), or Batten disease, are the most common neurodegenerative disorders of childhood. They are characterised by progressive blindness and neurodegeneration and the accumulation of autofluorescent material (ceroid and lipofuscin) in neurons and other cell types. Most are inherited in an autosomal recessive manner. My main interest lies in identifying the genes defective in all types of NCL and elucidating their function. Six human genes have been identified so far, and one additional gene has been identified in a naturally occurring animal model. Four of the genes encode soluble proteins which are found in the lysosome (CTSD, CLN1/PPT1, CLN2/TPPI, CLN5), and three encode proteins predicted to be part of a membrane (CLN3, CLN6, CLN8). Research Group: Current members are Dr Sandra Codlin (Postdoctoral Research Fellow), Dr Yannick Gachet (Postdoctoral Research Fellow), Ms Morwenna Porter (Research Student) and Ms Yella Martin (Research Student). Former members include Dr Ruth Wheeler, Dr Julie Sharp, Mr Wayne Mitchell, Dr Kit-Yi Leung, Dr Patricia Munroe, Dr Hannah Mitchison, Dr Angela O'Rawe, Ms Treasa Creavin, Mr Jaimie Greenham.

27. Ceroid Lipofuscinosis, Neuronal 3, Juvenile Information Diseases Database
    Ceroid lipofuscinosis, neuronal 3, juvenile,Juvenile neuronal ceroid lipofuscinosis,BattenMayou disease,Batten s disease,Batten-Spielmeyer-Vogt disease  
    http://www.diseasesdatabase.com/ddb31534.htm

28. Santavuori Disease - Quest Diagnostics Patient Health Library
    by this report. Synonyms. CLN1; INCL; Infantile neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis Type 1; Infantile Type  
    http://www.questdiagnostics.com/kbase/nord/nord1090.htm
    
    Extractions: It is possible that the main title of the report 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. 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. Vaincre Les Maladies Lysosomales

29. Kufs Disease - Quest Diagnostics Patient Health Library
    Generalized Lipofuscinosis; neuronal ceroid lipofuscinosis, Adult Type. Disorder Subdivisions. None. General Discussion. Kufs Disease  
    http://www.questdiagnostics.com/kbase/nord/nord349.htm
    
    Extractions: It is possible that the main title of the report 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. 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. National Tay-Sachs and Allied Diseases Association, Inc.

30. 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 *204200 OMIM record.  
    http://www.biotech.ist.unige.it/cldb/pat269.html

31. PharmGKB: Neuronal Ceroid-Lipofuscinosis
    Adult; Neuronal Ceroid Lipofuscinoses; neuronal ceroid lipofuscinosis; Santavuori Haltia Disease; SantavuoriHaltia Disease; Spielmeyer Vogt Disease; Spielmeyer  
    http://www.pharmgkb.org/do/serve?objId=PA445110&objCls=Disease

32. (13[4]:574-581) Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: A Novel
    (134574581) Autosomal Dominant Adult neuronal ceroid lipofuscinosis a Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein  
    http://brainpath.medsch.ucla.edu/abstracts/vol13/1304/1304a13.htm
    
    Extractions: Electron microscopy showed ample intraneuronal granular osmiophilic deposits (GRODs), as occurs in CLN1 and congenital ovine NCL. These forms of NCL are caused by the deficiencies of palmitoyl protein thioesterase 1 and cathepsin D, respectively. However, activities of these enzymes were within normal range in our patients. Thus we propose that a gene distinct from the cathepsin D and CLN1-CLN8 genes is responsible for this autosomal dominant form of ANCL.

33. Penn State Faculty Research Expertise Database (FRED)
    , Lipofuscinoses. neuronal ceroid lipofuscinosis, Santavuori Haltia Disease.Faculty Research Expertise Database. Neuronal CeroidLipofuscinosis.  
    http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D009472

34. Entrez PubMed
    Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase.  
    http://www.biomedcentral.com/pubmed/10965052
    
    Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order

35. Entrez PubMed
    Click here to read Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta P, Soyombo AA, Atashband  
    http://www.biomedcentral.com/pubmed/11717424
    
    Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order

36. Retina International's Scientific Newsletter - Ceroid Lipofuscinosis Loci
    neuronal ceroid lipofuscinosis Adult Type, Kufs Disease, CLN4, 204300, PPT, 600722, ar, 1p32. D1S211, (16). neuronal ceroid lipofuscinosis  
    http://www.retina-international.org/sci-news/cerlip.htm
    
    Extractions: MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References Callen,D.F., Baker,E., Lane,S., Nancarrow,J., Thompson,A., Whitmore,S.A., MacLennan,D.H., Berger,R., Cherif,D., and Jarvela,I. Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. 1991; Am.J.Hum.Genet. 49: 1372-1377.

37. Palmitoyl Protein Thioesterase: Implications For Infantile Neuronal Ceroid Lipof
    protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons 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

38. MRI Of Neuronal Ceroid Lipofuscinosis. I. Cranial MRI Of 30 Patients With Juveni
    Julkaisu. Reference. Autti T, Raininko R, Vanhanen SL, Santavuori P. MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients  
    http://www.uku.fi/wwwdata/julkaisutoiminta/julkaisut/1996/9601530.html

39. Laura Åberg: Uvenile Neuronal Ceroid Lipofuscinosis; Brain-related Symptoms And
    University of Helsinki, Helsinki 2001. Juvenile neuronal ceroid lipofuscinosis; brainrelated symptoms and their treatment. Laura Åberg.  
    http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/aberg/

40. CEROID
    Danish. arvelig amaurotisk idioti (Batten disease, neuronal ceroid lipofuscinosis). amaurotisch idiotisme (Batten disease, neuronal ceroid lipofuscinosis).  
    http://www.websters-online-dictionary.org/definition/english/Ce/Ceroid.html
    
    Extractions: Philip M. Parker, INSEAD. CEROID Specialty Definition: CEROID Domain Definition A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions. ( references Source: compiled by the editor from various references ; see credits. Top Specialty definitions using "CEROID" Hermanski-Pudlak Syndrome Lipofuscin references Top Commercial Usage: CEROID Domain Title Source: compiled by the editor from various references ; see credits. Top Expressions: CEROID Hyphenated Usage Beginning with "CEROID": CEROID-LIPOFUSCINOSIS, Ceroid-Lipofuscinosis. Source: compiled by the editor from various references ; see credits. Top Frequency of Internet Keywords: CEROID The following statistics estimate the number of searches per day across the major English-language search engines as identified by various trade publications. Hyperlinks lead to commercial use of the expression at Amazon.com

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