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Ataxia Genetics:     more books (26)

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) Genetic biomarkers of therapeutic radiation sensitivity [An article from: DNA Repair] by M. Fernet, J. Hall, Hereditary Neuropathies and Spinocerebellar Atrophies Abetalipoproteinemia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Scott, MS, CGC Polzin, 2005 Chromosome Instability Syndromes: Ataxia Telangiectasia, Fanconi Anemia, Bloom Syndrome, Nijmegen Breakage Syndrome Finding a drug target for Friedreich's Ataxia: An overview of FRDA, current research and a new finding by Nadine Chapman-Rothe, 2010-02-26 Azorean disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005 New Hereditary Ataxia-disorders in Finland (Acta Universitatis Tamperensis) by Maria Rantamaki, 2009-10-19 A new recessive lethal mutation in mice, (University of California publications in zoology) by Kenneth Benton De Ome, 1945 Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanism in related Amish sibships by Victor A McKusick, 1966 ACCELERATED AGING: HUMAN PROGEROID SYNDROMES: An entry from Macmillan Reference USA's <i>Encyclopedia of Aging</i> by DAVID K. ORREN, 2002 Machado-Joseph disease (SuDoc HE 20.3520:M 18) by U.S. Dept of Health and Human Services, 2001

lists with details

21. XCA - X-Linked Congenital Ataxia (genetics)
    Acronym Finder XCA stands for XLinked Congenital Ataxia (genetics)  
    http://www.acronymfinder.com/X_Linked-Congenital-Ataxia-(genetics)-(XCA).html

22. CiteULike: Gthorisson's Friedreich-ataxia-genetics [1 Article]
    Recent papers added to gthorisson's library classified by the tag friedreichataxia-genetics. You can also see everyone's friedreich-ataxia-genetics.  
    http://www.citeulike.org/user/gthorisson/tag/friedreich-ataxia-genetics

23. Spinocerebellar Ataxia
    InfantileOnset Spinocerebellar Ataxia Genetics Home Reference; Machado-Joseph Disease Information Page National Institute of Neurological Disorders and Stroke  
    http://www.noah-health.org/en/bns/disorders/other/spinoataxia.html

24. Ataxia - Causes - NHS Choices
    If you have autosomal dominant ataxia, any children that you have will have a one in two chance of developing ataxia. Genetics and pregnancy  
    http://www.nhs.uk/Conditions/Ataxia/Pages/Causes.aspx

25. Scientists Identify Gene For Spinocerebellar Ataxia 2: National Institute Of Neu
    The National Institute of Neurological Disorders and Stroke (NINDS) is the leading supporter of biomedical research on disorders of the brain and nervous system.  
    http://www.ninds.nih.gov/news_and_events/news_articles/press_release_spinocerebe
    
    Extractions: Microsoft Word Viewer For release: Thursday, October 31, 1996 Scientists have identified the gene altered in one of the most common hereditary ataxias, spinocerebellar ataxia 2 (SCA2). The discovery allows improved genetic testing and provides new clues about how genetic mutations cause several neurological disorders, including Huntington's disease. The findings are reported by three different groups in the November issue of Nature Genetics.* The gene, found on chromosome 12, normally contains a string of 15 to 29 repeats of a three-base (trinucleotide) sequence in the genetic code cytosine, adenine, and guanine, or CAG. In people with SCA2, however, the gene contains from 36 to 59 CAG repeats. Each CAG trinucleotide codes for a single amino acid called glutamine, so these CAG repeats result in a long string of glutamines (also known as a polyglutamine) that interrupts the sequence of a normal protein. CAG repeat mutations have previously been linked to Huntington's and four other diseases. The discovery of the SCA2 gene will allow more specific genetic testing for people with hereditary ataxias, says Stefan Pulst, MD, of Cedars-Sinai Medical Center at the University of California, Los Angeles. Pulst, a grantee of the National Institute of Neurological Disorders and Stroke (NINDS), is lead author on one report. Hereditary and sporadic ataxias combined affect an estimated 150,000 Americans. Scientists previously identified the genes for two other spinocerebellar ataxias (SCA 1 and 3), and recent genetic linkage studies suggest that there may be four more. The symptoms of these diseases often overlap, as do the ages of onset. One family with SCA2 might develop ataxia, for example, while another might show dementia and chorea (involuntary movements) resembling Huntington's disease.

26. Sideroblastic Anemia
    Sideroblastic Anemias Merck Manual; Xlinked Sideroblastic Anemia Genetics Home Reference; X-Linked Sideroblastic Anemia and Ataxia Genetics Home Reference  
    http://www.noah-health.org/en/blood/anemia/types/sideroblastic.html

27. GAA Repeat Expansions And Frataxin. - Free Online Library
    Free Online Library GAA Repeat Expansions and Frataxin.(ataxia genetics) by Generations ; Seniors Health, general Ataxia Genetic aspects Disease susceptibility Genetic  
    http://www.thefreelibrary.com/GAA Repeat Expansions and Frataxin.(ataxia genetic
    
    Extractions: 18,416,712 articles and books Periodicals Literature Keyword Title Author Topic Member login User name Password Remember me Join us Forgot password? Submit articles free The Free Library ... Generations artId=63690635;usrSelf=false; I will talk a little about genetics and move onto Friedreich ataxia ataxia , lack of coordination of the voluntary muscles resulting in irregular movements of the body. Ataxia can be brought on by an injury, infection, or degenerative disease of the central nervous system, e.g. (FA), in particular the GAA GAA Goals Against Average (Hockey)

28. Ataxia (The 5-Minute Pediatric Consult) - WrongDiagnosis.com
    Ataxia genetics. Hereditary causes of chronic ataxia include the recessively inherited Friedreich ataxia, ataxia telangiectasia, and late-infantile/juvenile-onset forms of some  
    http://www.wrongdiagnosis.com/r/retts_syndrome/book-diseases-20a.htm

29. CiteULike: Wardle's Ataxiageneticsphysiopathology [5 Articles]
    Recent papers added to wardle's library classified by the tag ataxiageneticsphysiopathology. You can also see everyone's ataxiageneticsphysiopathology.  
    http://www.citeulike.org/user/wardle/tag/ataxiageneticsphysiopathology

30. Progressive Cerebellar Ataxia With Variable Episod... [Eur Neurol. 2008] - PubMe
    Ataxia/genetics; Ataxia/physiopathology; Calcium Channels/genetics* Cerebellar Ataxia/genetics* Cerebellar Ataxia/physiopathology; Disease Progression  
    http://www.ncbi.nlm.nih.gov/pubmed/18437043

31. FreeMD® Friedreich's Ataxia Underlying Cause
    Friedreich's ataxia is an inherited disorder. Friedreich's ataxia causes Continue to Friedreich's Ataxia Genetics  
    http://www.freemd.com/friedreichs-ataxia/underlying-cause.htm

32. The Fragile X Tremor Ataxia Syndrome In The Differ... [Brain. 2005] - PubMed Res
    Ataxia/genetics* Cerebellar Ataxia/complications; Cerebellar Ataxia/diagnosis; Cerebellar Ataxia/genetics; Cohort Studies; Diagnosis, Differential; Female  
    http://www.ncbi.nlm.nih.gov/pubmed/15947063

33. Movement Disorders: MedlinePlus
    Genetics Home Reference Xlinked sideroblastic anemia and ataxia Genetics Home Reference X-linked sideroblastic anemia and ataxia http//ghr.nlm.nih.gov/condition/x-linked  
    http://www.nlm.nih.gov/medlineplus/movementdisorders.html
    
    Extractions: Other Topics: A B C D ... All Topics URL of this page: http://www.nlm.nih.gov/medlineplus/movementdisorders.html Imagine if you couldn't walk normally or get up from a chair, or if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is a common symptom of many movement disorders. Dyskinesia results in broken or jerky motions. Tremors are a type of dyskinesia. Nerve diseases cause many movement disorders, such as Parkinson's disease . Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families. Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain. Imagine if you couldn't walk normally or get up from a chair, or if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is a common symptom of many movement disorders. Dyskinesia results in broken or jerky motions. Tremors are a type of dyskinesia.

34. Log In Problems
    Friedreich Ataxia genetics metabolism physiopathology Genetic Predisposition to Disease genetics Hepatolenticular Degeneration genetics  
    http://www.medscape.com/medline/abstract/17367269

35. Fragile X-associated Tremor/ataxia Syndrome Presenting In A Woman After Chemothe
    Medicine..Cerebellar Ataxia Genetics..Allele Related Articles. July 26 Highlights Neurology 2005 65 184185. The variable phenotype of  
    http://www.neurology.org/cgi/content/citation/65/2/331
    
    Extractions: var callbackToken='427FDDCAE460D6D'; Skip to main page content Visit www.aan.com Quick Search keyword author year volume page Search Advanced Search Clinical/Scientific Notes Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy Neurology July 26, 2005 The variable phenotype of FXTAS A common cause of “idiopathic” disorders Neurology July 26, 2005 Brief Communications Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS) Neurology July 26, 2005 Abstract Full Text Full Text (PDF) Polish Data Supplement ... Table of Contents doi: 10.1212/01.wnl.0000168865.36352.53

36. Find A Doctor - Beth Israel Deaconness Medical Center
    Clinical Interest(s) Movement Disorders; Parkinson's Disease; Tourette Syndrome; Tremors; Ataxia; Genetics; Mitochondrial Disorders  
    http://services.bidmc.org/Find_a_doc/doc_detail.asp?sid=41414547454945

37. Friedreich's Ataxia: MedlinePlus
    Genetics Home Reference Friedreich ataxia Genetics Home Reference Friedreich ataxia http//ghr.nlm.nih.gov/condition/friedreichataxia (National Library of Medicine)  
    http://www.nlm.nih.gov/medlineplus/friedreichsataxia.html
    
    Extractions: Other Topics: A B C D ... All Topics URL of this page: http://www.nlm.nih.gov/medlineplus/friedreichsataxia.html Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery and physical therapy. NIH: National Institute of Neurological Disorders and Stroke Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include

38. NIH - Rare Diseases
    Friedreich's Ataxia; Genetics Home Reference Harlequin Ichthyosis; Genetics Home Reference Methemoglobinemia, Betaglobin Type; Genetics Home Reference Tyrosinemia  
    http://health.nih.gov/topic/RareDiseases/GeneticsBirthDefects

39. XCA - Definition By AcronymFinder
    Extracurricular Activity * XCA External Communications Adapter * XCA XLinked Congenital Ataxia (genetics) * XCA X-Ray Contrast Angiography (radiology)  
    http://www.acronymfinder.com/XCA.html

40. Log In Problems
    Friedreich Ataxia genetics Humans; Mutation; Myotonic Dystrophy genetics Nervous System Diseases genetics Neurodegenerative Diseases genetics  
    http://www.medscape.com/medline/abstract/16205714

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