81. Neuronal Ceroid Lipofuscinosis And Arthropathy: A Family Study -- Proops And Gre neuronal ceroid lipofuscinosis and arthropathy a family study. R Proops and SH Green. A family is described in which three children have neuronal ceroid http://jmg.bmjjournals.com/cgi/content/abstract/18/2/101

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link 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 Proops, R. Articles by Green, S. H. Journal of Medical Genetics, 1981, Vol 18, 101-104 ARTICLES Neuronal ceroid lipofuscinosis and arthropathy: a family study R Proops and SH Green A family is described in which three children have neuronal ceroid lipofuscinosis and two of them also have an arthropathy. Clinically the children have the late infantile form but pathological evidence shows the recognised overlap with the juvenile form. A fourth child with joint

82. Sara Mole Biology of the neuronal ceroid lipofuscinoses (Batten disease) Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is http://www.ucl.ac.uk/LMCB/pages/mole.html

Sara Mole 1983 - BA University of Cambridge 1986 - PhD University of London, Imperial College of Science and Technology 1989 - Postdoctoral Fellow at University of Cambridge Email: s.mole@ucl.ac.uk Biology of the neuronal ceroid lipofuscinoses (Batten disease) Autofluorescent lipofuscin in patient cells (courtesy of Prof Hans Goebel) The neuronal ceroid lipofuscinoses (NCL), or Batten disease, are the most common neurodegenerative disorders of childhood. Children suffer from progressive blindness and neurodegeneration leading to premature death. The disease is characterised by the accumulation of autofluorescent material (ceroid and lipofuscin-like) in the lysosomes of most cells, and the death of cortical neurons. Since lipofuscin accumulates during the normal ageing process and ceroid is found in several diseases, including a common cause of blindness, and since the NCL storage material accumulates prenatally yet may have no clinical effects for many years, understanding the molecular basis of NCL disease may also shed light on the biology of ageing, macular degeneration and late onset neurodegeneration. Most NCLs are inherited in an autosomal recessive manner. I have spent many years taking a molecular genetic approach to identify genes defective in the different types of NCL. 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 that are found in the lysosome (

83. Arch Ophthalmol -- Abstract: Diagnosis Of Neuronal Ceroid Lipofuscinosis By Ultr Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes. RD Brod, AJ Packer and HJ Van Dyk http://archopht.ama-assn.org/cgi/content/abstract/105/10/1388

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 105 No. 10, October 1987 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Brod RD Van Dyk HJ Contact me when this article is cited Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes R. D. Brod, A. J. Packer and H. J. Van Dyk LSU Eye Center, Louisiana State University Medical Center School of Medicine, New Orleans 70112-2234. A 7-year-old child with a history of seizures, psychomotor regression, and progressive visual loss was found to have juvenile type neuronal ceroid lipofuscinosis on the basis of characteristic ophthalmoscopic and electroretinographic findings. Although transmission electron micrographs

84. Journal Of Heredity -- Sign In Page Characterization of Candidate Genes for neuronal ceroid lipofuscinosis in Dog J Hered Drögemüller et al. 10.1093/jhered/esi088 http://jhered.oxfordjournals.org/cgi/content/full/esi088/DC1

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85. Deutsches Ärzteblatt: Archiv Translate this page Autosomal dominant adult neuronal ceroid lipofuscinosis a novel form of NCL with Variant late infantile neuronal ceroid lipofuscinosis in a subset of http://www.aerzteblatt.de/v4/archiv/lit.asp?id=45242

86. AllRefer Health - Neuronal Ceroid Lipofuscinoses (NCLS) (Batten Disease, Jansky- neuronal ceroid Lipofuscinoses (NCLS) (Batten Disease, JanskyBielschowsky, Kufs Disease, Lipofuscinoses, Spielmeyer-Vogt) information center covers causes http://health.allrefer.com/health/lipofuscinosis-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Neuronal Ceroid Lipofuscinoses (NCLS) Neuronal Ceroid Lipofuscinoses (NCLS) Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Batten Disease, Jansky-Bielschowsky, Kufs' Disease, Lipofuscinoses, Spielmeyer-Vogt Definition The neuronal ceroid lipofuscinoses (NCLS) are a group of rare, inherited neurodegenerative disorders. They associated with the accumulation of an abnormal pigment in the brain called lipofuscin. These disorders can be associated with severe diseases including blindness, mental retardation, and early death. There are three main types, depending on the age it begins late infantile (Jansky-Bielschowsky), juvenile (Batten disease), and adult (Kufs or Parry's disease).

87. AllRefer Health - Neuronal Ceroid Lipofuscinoses (NCLS): Symptoms & Signs (Batte neuronal ceroid Lipofuscinoses (NCLS) (Batten Disease, JanskyBielschowsky, Kufs Disease, Lipofuscinoses, Spielmeyer-Vogt) information center covers http://health.allrefer.com/health/lipofuscinosis-symptoms.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Neuronal Ceroid Lipofuscinoses (NCLS) : Symptoms of Neuronal Ceroid Lipofuscinoses (NCLS) Neuronal Ceroid Lipofuscinoses (NCLS) Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Batten Disease, Jansky-Bielschowsky, Kufs' Disease, Lipofuscinoses, Spielmeyer-Vogt blindness or visual disturbance ataxia unsteady gait mental retardation with decreasing mental function dementia (deterioration of ability to think) seizures abnormal increased muscle tone or spasm (myoclonus) movement disorder ( choreoathetosis Previous Top Next Jump to another section Definition Neuronal Ceroid Lipofuscinoses (NCLS): Prevention Neuronal Ceroid Lipofuscinoses (NCLS): Treatment Neuronal Ceroid Lipofuscinoses (NCLS): Prognosis ... Calling Your Health Care Provider Topics that might be of interest to you Biopsy Other Topics Autosomal Recessive Blindness Genetic Counseling and Prenatal Diagnosis Lipofuscin ... Walking/Gait Abnormalities Review Date : 11/3/2003 Reviewed By : Celeste Krauss, M.D., Board Certified Clinical Genetics, Clinical Cytogenetics and Pediatrics. Founding Fellow, American College of Medical Genetics. Review provided by VeriMed Healthcare Network.

88. Neuronal Ceroid-Lipofuscinosis - Batten Disease - Information Page With HONselec An inherited degenerative disease characterized by neuronal cytoplasmic inclusio http://www.hon.ch/HONselect/RareDiseases/EN/C10.574.500.550.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Neuronal Ceroid-Lipofuscinosis": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Neuronal Ceroid-Lipofuscinosis Definition: An inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin. Affected individuals develop retinal degeneration, seizures, myoclonus, ataxia, rigidity, and progressive dementia. Clinically there are four subtypes, divided by age of onset of symptoms: infantile (Santavuori-Haltia type), late infantile (Jansky-Bielschowsky type), juvenile (Spielmeyer-Vogt type), and adult (Kuf's disease). The late infantile and juvenile forms may both also be referred to as Batten Disease and Batten-Mayou Disease. (Adams et al., Principles of Neurology, 6th ed, p957) Synonym(s): Batten Disease / Ceroid-Lipofuscinosis, Neuronal / Jansky-Bielschowsky Disease / Kufs Disease /

89. HONselect - Neuronal Ceroid-Lipofuscinosis Translate this page English, neuronal ceroid-lipofuscinosis, - Batten Disease - ceroid-lipofuscinosis, neuronal - Jansky-Bielschowsky Disease - Kufs Disease http://www.hon.ch/HONselect/RareDiseases/C10.574.500.550.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Neuronal Ceroid-Lipofuscinosis - Batten Disease - Ceroid-Lipofuscinosis, Neuronal - Jansky-Bielschowsky Disease - Kufs Disease - Spielmeyer-Vogt Disease - Adult Neuronal Ceroid Lipfuscinosis Français: Céroïde lipofuschinose neuronale - Maladie de Jansky-Bielschowsky - Céroïde lipofuschinose neuronale infantile tardive - Céroïde lipofuscinose neuronale infantile tardive - Idiotie amaurotique de type Bielschowsky - Maladie de Kufs - Céroïde lipofuschinose neuronale de l'adulte Deutsch: Neuronale Zeroidlipofuszinose - Dollinger-Bielschowsky-Syndrom - Kuf-Syndrom - Ceroid-Lipofuszinose - Lipofuszinose, neuronale Zeroid- - Zeroidlipofuszinose, neuronale - Spielmeyer-Vogt-Krankheit Español: Lipofuscinosis Ceroide Neuronal - Enfermedad de Jansky-Bielschowsky - Enfermedad de Kufs - Lipofuscinosis Neuronal Ceroide - Enfermedad de Spielmeyer-Vogt - Enfermedad de Batten Português: Lipofuscinose Ceróide Neuronal - Doença de Jansky-Bielschowsky - Doença de Kufs - Lipofuscinose Neuronal Ceróide - Doença de Spielmeyer-Vogt - Doença de Batten HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français Yes Deutsch No Español Yes Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C10.574.500.550.html

90. Neuronal Ceroid-Lipofuscinosis neuronal ceroidlipofuscinosis This resource has a US focus. Patient Education Handout Publication Type; neuronal ceroid-lipofuscinosis; http://omni.ac.uk/browse/mesh/D009472.html

low graphics Neuronal Ceroid-Lipofuscinosis NINDS : Batten disease information page This Web resource on Batten disease (a fatal, inherited disorder of the nervous system that begins in childhood) is produced by the National Institute of Neurological Disorders and Stroke (NINDS). A description of Batten disease is provided, and available treatments, prognosis, and current research activities are all discussed. Links to related organisations and NINDS related material (including documents and press releases) are provided. This resource has a US focus. Patient Education Handout [Publication Type] Neuronal Ceroid-Lipofuscinosis Last modified: 09 Sep 2005

91. Short Description Of Cell Lines. Pathology: Neuronal Ceroid-lipofuscinosis Infan Version 4.200205. Short description of cell lines. Pathology neuronal ceroidlipofuscinosis infantile Finnish type 256730 OMIM record http://www.biotech.ist.unige.it/cldb/pat134.html

Version Short description of cell lines. Pathology: neuronal ceroid-lipofuscinosis infantile Finnish type 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...

92. Neuronal Ceroid-lipofuscinosis - Definition From Biology-Online.org Definition and other additional information on neuronal ceroidlipofuscinosis from Biology-Online.org dictionary. http://www.biology-online.org/dictionary/neuronal_ceroid-lipofuscinosis

Forum Tutorials Dictionary Directory ... N neuronal ceroid-lipofuscinosis neuronal ceroid-lipofuscinosis A heritable lipidosis with cytoplasmic inclusions staining for ceroid and lipofuscin . Clinically the patient has progressive dementia retinal degeneration seizures , and myoclonic jerks . It was formerly thought to be related to tay-sachs disease but the biochemical defect is as yet undetermined. Named according to age of onset : jansky-bielschowsky disease years batten spielmeyer-vogt disease , 5-11 years; and kufs disease adult Search the dictionary About Us Contact Us Link to Us Chemistry ... Equations

93. GeneReviews: Neuronal Ceroid-Lipofuscinosis Your browser does not support HTML frames so you must view neuronal ceroidlipofuscinosis in a slightly less readable form. Please follow this link to do http://www.geneclinics.org/profiles/ncl/?Lng=GB

94. Neuronal Ceroid-lipofuscinosis neuronal ceroidlipofuscinosis. ceroid lipofuscinosis Synapse Web - Medical College of Georgia. Search with keyword(s) And Or Wildcard = * http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=526

95. MeSH-D Terms Associated To MeSH-C Term Neuronal Ceroid-Lipofuscinosis MeSHD terms associated to MeSH-C term neuronal ceroid-lipofuscinosis, G2D Home association of the corresponding term to neuronal ceroid-lipofuscinosis. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Neuronal_Ceroid-Lipofuscinosis:unk

96. Dorlands Medical Dictionary ceroidlipofuscinosis, neuronal ceroid-lipofuscinosis, a term for several genetic lipidoses of diverse biochemical and clinical characteristics, http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

97. Atypical Neuronal Ceroid-lipofuscinosis -- Greenwood And Nelson 28 (7): 710 -- N were similar to those in typical cases of neuronal ceroidlipofuscinosis. Atypical neuronal ceroid-lipofuscinosis may be distinguished histochemically, http://www.neurology.org/cgi/content/abstract/28/7/710

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... 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 ... Cited by other online articles PubMed PubMed Citation Articles by Greenwood, R. S. Articles by Nelson, J. S. ARTICLES Atypical neuronal ceroid-lipofuscinosis RS Greenwood and JS Nelson We describe the clinical, pathologic, and ultrastructural findings in a case of juvenile onset neuronal ceroid-lipofuscinosis without visual symptoms or retinal abnormalities. The histochemical and ultrastructural characteristics of the neuronal lipopigment were similar to those in typical cases of neuronal ceroid-lipofuscinosis. Atypical neuronal ceroid-lipofuscinosis may be distinguished histochemically, ultrastructurally, and clinically from another disorder called juvenile

98. Juvenile-onset Neuronal Ceroid-lipofuscinosis In Rambouillet Sheep -- Edwards Et Juvenileonset neuronal ceroid-lipofuscinosis in Rambouillet sheep. JF Edwards, RW Storts, JR Joyce, JM Shelton and CS Menzies http://www.vetpathology.org/cgi/content/abstract/31/1/48

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS 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 PubMed PubMed Citation Articles by Edwards, J. F. Articles by Menzies, C. S. ARTICLES Juvenile-onset neuronal ceroid-lipofuscinosis in Rambouillet sheep J. F. Edwards, R. W. Storts, J. R. Joyce, J. M. Shelton and C. S. Menzies Two, 8-month-old Rambouillet half-sister ewes with signs of visual loss and decreased mentation were examined. Ewe No. 1 was necropsied at 10 months of age, and after being held under observation for a further 6 months, ewe No. 2 was necropsied at 16 months of age. At that time, the ewe was blind and severely depressed. Both ewes had deposition of an autofluorescent lipopigment, identified as ceroid-lipofuscin, in neurons of the brain, spinal cord, eye, and dorsal root ganglia. The disease process was progressive and characterized by deposition of lipopigment with neuronal degeneration and severe fibrillary astrogliosis. This progressive loss of

99. Neuronal Ceroid-lipofuscinosis In A Cat -- Bildfell Et Al. 32 (5): 485 -- Veteri neuronal ceroidlipofuscinosis was diagnosed in a young adult domestic Contrary to the human neuronal ceroid-lipofuscinoses, pigment deposition appeared http://www.vetpathology.org/cgi/content/abstract/32/5/485

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS 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 Bildfell, R. Articles by Ward, P. ARTICLES Neuronal ceroid-lipofuscinosis in a cat R. Bildfell, C. Matwichuk, S. Mitchell and P. Ward Department of Pathology and Microbiology, Atlantic Veterinary College, University of Prince Edward Island, Canada. Neuronal ceroid-lipofuscinosis was diagnosed in a young adult domestic short-haired cat euthanatized because of severe progressive neurologic disease. Clinical signs included blindness, seizures, and decreased mentation. An autofluorescent pigment, identified as ceroid-lipofuscin by electron microscopy and staining properties, was found within neurons of the central and peripheral nervous systems. A diffuse reactive astrocytosis accompanied by multifocal microgliosis was visible in all areas of the brain. Retinal atrophy with intraneuronal lipopigment accumulation was also

100. EMedicine - Neuronal Ceroid Lipofuscinoses : Article By Celia H Chang, MD neuronal ceroid Lipofuscinoses The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of neurodegenerative disorders. http://www.emedicine.com/neuro/topic498.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Neuronal Ceroid Lipofuscinoses Last Updated: February 20, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Celia H Chang, MD , Assistant Professor, Department of Neurology, University of California at Davis Celia H Chang, MD, is a member of the following medical societies: American Academy of Neurology , and Child Neurology Society Editor(s): Beth A Pletcher, MD , Co-Director of The Neurofibromatosis Center of New Jersey, Associate Professor, Department of Pediatrics, University of Medicine and Dentistry of New Jersey; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, eMedicine; Kenneth J Mack, MD, PhD , Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic;

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