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/

Schedule Registration Chicago Information Hotel Information ... Call for Abstracts Organizing Committee Michael Bennett University of Texas Southwestern Medical School Rosemary Boustany Duke University Beverly Davidson University of Iowa Sandra Hofmann University of Texas Southwestern Medical School Anu Jalanko University of Helsinki, Finland Alfried Kohlschutter University of Hamburg, Germany. David Pearce University of Rochester Hannah Mitchison, University College London, UK Sara Mole University College, London, UK David Palmer Center for Molecular Biology, Lincoln University Leena Peltonen Department of Genetics, UCLA J. Alfred Rider Children's Brain Diseases Foundation Krystina Wisniewski Institute for Basic Research, Staten island, NY th International Congress on Neuronal Ceroid Lipofuscinosis (Batten Disease) April 9-13, 2003

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

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress 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

Return to PA Index Return to NIH Guide Main Index Department of Health and Human Services National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892

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

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record 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

Schedule Registration Chicago Information Hotel Information ... Call for Abstracts Organizing Committee Michael Bennett University of Texas Southwestern Medical School Rosemary Boustany Duke University Beverly Davidson University of Iowa Sandra Hofmann University of Texas Southwestern Medical School Anu Jalanko University of Helsinki, Finland Alfried Kohlschutter University of Hamburg, Germany. David Pearce University of Rochester Hannah Mitchison, University College London, UK Sara Mole University College, London, UK David Palmer Center for Molecular Biology, Lincoln University Leena Peltonen Department of Genetics, UCLA J. Alfred Rider Children's Brain Diseases Foundation Krystina Wisniewski Institute for Basic Research, Staten island, NY Jump To: Day Session Wednesday, April 9th

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

Return to PA Index Return to NIH Guide Main Index Department of Health and Human Services National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892

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.

Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources ... Neuronal Ceroid Lipofuscinosis Patient/Family Resource Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult): Table of contents Medical Library subscription INFO Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies: Access document Neuronal Ceroid-Lipofuscinoses: Access document Other MD Consult Reference Books: Table of contents Medical Library subscription INFO All MD Consult Reference Books for Neurology (eMedicine): Table of contents Inherited Metabolic Disorders: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Neuronal Ceroid-Lipofuscinoses: Access document CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Neuronal Ceroid-Lipofuscinoses: List of documents 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

Patient/Family Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Patient/Family Resources Spanish Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Neuronal Ceroid Lipofuscinosis Clinical Resources Batten Disease Support and Research Association Homepage Batten Disease Facts and Fictions: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Batten Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Spanish MEDLINE plus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Miscellaneous Neuronal Ceroid Lipofuscinosis Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Batten Disease: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

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

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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

Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources ... Neuronal Ceroid Lipofuscinosis Patient/Family Resource Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies: Access document Neuronal Ceroid-Lipofuscinoses: Access document Other MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO All MD Consult Reference Books for Neurology (eMedicine): Table of contents Inherited Metabolic Disorders: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Neuronal Ceroid-Lipofuscinoses: Access document CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Neuronal Ceroid-Lipofuscinoses: List of documents 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

Surf HKMJ by: Please select keyword search: Vol. 1 to 5 keyword search: Vol. 6 to 8 volume theme supplements Search the latest HKMJ: Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient CH Ko, CK Kong, TC Chow, KC Lee 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. The Hong Kong Medical Journal is published by the Hong Kong Academy of Medicine and the Hong Kong Medical Association. URL: http://www.hkmj.org.hk Revised 25 Jan 2003 [JC]

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

Home Donations Stop Press Contacts ... Research GPs Leaflet Nurses leaflet Juvenile Neuronal Ceroid-Lipofuscinosis (Juvenile Battens' Disease) Information leaflet for General Practitioners Forms of the disease General description Key Symptoms Diagnostic tests 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

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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

Home Current Test Offerings General Requisition Form Price List and CPT Codes ... MGH Neurology CURRENT TEST OFFERINGS Dopa Responsive Dystonia (DRD; GTP cyclohydrolase) Dystonia (DYT1) Familial Amyotrophic Lateral Sclerosis (FALS; SOD1 mutation) Huntington disease (HD) ... Chromosome 1p/19q allele loss (anaplastic oligodendroglioma markers)

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

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

Julkaisu Reference Romppanen E-L, Valtonen P, Mononen T, Mononen I. Molecular diagnosis of Finnish type infantile neuronal ceroid lipofuscinosis by restriction fragment lenght polymorphism and oligonucleotide ligation assay. Clin Chem Julkaisutiedot Julkaisutyyppi: Alkuperäisartikkeli. Kansainvälinen. Kieli: Englanti. Publication data Publication type: Original scientific article. International. In English. Tekijät Contributors Kuopion yliopistollinen sairaala Kliininen kemia Eeva-Liisa Romppanen Tarja Mononen Ilkka Mononen Kuopio University Hospital Department of Clinical Chemistry Eeva-Liisa Romppanen Tarja Mononen Ilkka Mononen Julkaisutietokanta Publications Data Base

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

Home Search Browse Resources ... About Search results for Neuronal Ceroid Lipofuscinosis [ALL-FIELDS] are shown below. Show all trials, including those no longer recruiting patients. 1 study was found. Recruiting Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Condition: Infantile Neronal Ceroid Lipofuscinosis U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Freedom of Information Act ... Accessibility

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

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

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