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Ataxia Genetics: more books (26)

Ataxia-telangiectasia: Genetics, neuropathology, and immunology of a degenerative disease of childhood : proceedings of a conference held in Solvang, California, ... 16-20, 1984 (The Kroc Foundation series)
Ataxia-telangiectasia: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Genevieve, PhD Slomski, 2005
Friedreich ataxia: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Toni, MS, CGC Pollin, 2005
Spinocerebellar ataxia: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Maria, PhD Basile, 2005
Ataxia Telegiectasia: A Cellular and Molecular Link Between Cancer, Neuropathology and Immune Deficiency (A Wiley medical publication) by B.A. Bridges, D.G. Harnden, 1982-04-07
The Hereditary Ataxias and Related Disorders (Clinical Neurology and Neurosurgery Monographs, Volume 6) by A. E. Harding, 1984-12
Journal of Genetic Counseling August 2007 (An Interdisciplinary Journal Focused on the Advancement of Knowledge about Genetic Counseling, Volume 16, Number 4) by Inc. National Society of Genetic Counselors, 2007
Ataxia-Telangiectasia: Genetics, Neuropathology, & Immunology of the Degenerative Disease of Childhood
Autosomal dominant spinocerebellar ataxia: A genetic linkage map of genes associated with the disease locus by Patricia Jean Wilkie, 1988
The Official Parent's Sourcebook on Friedreich's Ataxia: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18
Inherited Ataxias (Advances in Neurology) by A. E. Harding, 1992-12
On hereditary ataxia and spastic paraplegia (The treasury of human inheritance) by Julia Bell, 1939
Handbook of Ataxia Disorders (Neurological Disease and Therapy)
Ataxia-Telangiectasia (Nato a S I Series Series H, Cell Biology) by Richard A. Gatti, 1993-10

lists with details

Entrez PubMed
cardiomyopathy or absent deeptendon reflexes. MeSH Terms Canada;DNA/analysis; Female; Friedreich ataxia/genetics*; Haplotypes; Human;
http://www.biomedcentral.com/pubmed/8870928

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
GEMdatabase - Browse Titles
ataxia 1. Topics include summary, diagnosis, clinical description, differentialdiagnosis, management, genetic counseling, and molecular genetics.
http://www.gemdatabase.org/GEMDatabase/BrowseTitles.asp?curpage=40
PRESS RELEASE: FXTAS DNA Test (Fragile X-Associated Tremor/Ataxia Syndrome) Now
All Press Releases for March 22, 2004. FXTAS DNA Test (Fragile XAssociatedTremor/ataxia Syndrome) Now Available At Kimball genetics.
http://www.prweb.com/releases/2004/3/prweb112473.htm

Extractions: All Press Releases for March 22, 2004 FXTAS DNA Test (Fragile X-Associated Tremor/Ataxia Syndrome) Now Available At Kimball Genetics Kimball Genetics, internationally renowned experts in DNA testing for fragile X syndrome, announced today the expansion of their fragile X testing service to include DNA testing for FXTAS (fragile X-associated tremor/ataxia syndrome). Denver, CO,(PRWEB) March 22, 2004Kimball Genetics, internationally renowned experts in DNA testing for fragile X syndrome, announced today the expansion of their fragile X testing service to include DNA testing for FXTAS (fragile X-associated tremor/ataxia syndrome). FXTAS is a newly described neurological disorder that can affect older men who carry a fragile X premutation. FXTAS is characterized by progressive tremor, gait ataxia, and cognitive decline. The carrier frequency of men with a fragile X premutation is estimated to be 1 in 760 in the general population. One study suggests that up to 30% of male carriers with a fragile X premutation may develop FXTAS.
Annual Review Of Genetics : Ataxia-telangiectasia And The Nijmegen Breakage Synd
Annual Review of genetics ataxiatelangiectasia and the nijmegen breakagesyndrome related disorders but genes apart. @ HighBeam Research.
http://static.highbeam.com/a/annualreviewofgenetics/january011997/ataxiatelangie
Current Ataxia News - October 1997
frataxin. 2. Human Molecular genetics Frataxin is reduced in Friedreichataxia patients and is associated with mitochondrial membranes.
http://neuro-www.mgh.harvard.edu/forum/CerebellarAtaxiaF/11.6.973.37PMCurrentAta
ATM - Ataxia Telangiectasia Mutated (includes Complementation Groups A, C And D)
ataxiatelangiectasia (PubMed) Limit search to Last Year Limit search to Last2 Years Limit search to Reviews Related Resources Breast Cancer genetics
http://www.cancerindex.org/geneweb/ATM.htm

Extractions: Search: Summary Information Location: Aliases: ATA, ATC Overview: Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, telangiectases, immunodeficiency, radiosensitivity and predisposition to lymphatic leukemias and other malignancies. There are a number of sub-types of AT and at least 4 of the complementation groups are associated with mutations in the ATM gene. Return to ATM Contents
Genetic Testing
Orr, HT et al., Expansion of an unstable trinucleotide CAG repeat inspinocerebellar ataxia type 1. Nature genetics 1993; 4221226.
http://www.athenadiagnostics.com/site/product_search/test_reference_template.asp
The Scientist - Research: Ataxia Discoveries Open Window To Neurodegeneration
HT Orr et al., Expansion of an unstable trinucleotide CAG repeat inspinocerebellar ataxia type 1, Nature genetics, 42216, 1993.
http://www.the-scientist.com/yr1999/apr/research_990426.html

Extractions: Research By Steve Bunk For the most part, modern medicine is no match for neurodegenerative diseases. But with advances in the study of genetics, the ability of scientists to get a molecular "handle" on such mysterious malfunctions promises to change all that. And perhaps the most useful such handle yet found is the phenomenon called trinucleotide repeat expansion. This occurs when any three of the four nucleotide subunits in DNA material begin to excessively repeat their adjacent appearance in a molecule. For example, in normal nucleic acid molecules, the adjacent occurrence of cytosine, adenosine, and guanine (CAG) may repeat itself up to 40 times before being interrupted by another combination. But in recent years, researchers have observed CAG tracts of up to several hundred repeats in DNA of the victims of certain diseases. Since the CAG tract codes for glutamine, such ailments have become known as polyglutamine disorders. To date, eight neurodegenerative diseases have been shown to be caused by CAG expanded repeats located within specific genes. They include: Huntington's disease, dentatorrubral-pallidolysian atrophy, spinal-bulbar muscular atrophy, and five types of spinocerebellar ataxia (SCA) characterized by the inability to voluntarily control muscles.
Ataxia : A Serious Medical Condition. Resources To Obtain And Further Understand
ataxiaTelangiectasia genetics, Neuropathology, and Immunology of a DegenerativeDisease of Childhood (Kroc Foundation Series, Vol 19) Richard A. Gatti
http://databank.oxydex.com/compendium_bibliographium/advanced_medical_specialtie

Extractions: A Balancing ActLiving With Spinal Cerebellar Ataxia Patricia B. Hamilton; Spiral-bound Neural Transplantation in Cerebellar Ataxia (Neuroscience Intelligence Unit) Lazaros C. Triarhou; Hardcover Full Results: 18 items are shown below. A Balancing ActLiving With Spinal Cerebellar Ataxia Usually ships in 24 hours Patricia B. Hamilton / Spiral-bound / Published 1996
Genetics & Biotech Information Network
Who Is Affected By ataxiaTelangiectasia Web Site Managed and Modified By MontherAbu-Remaileh Published on Mon 21-4-2003 genetics Biotech Information Network
http://www.geneinfo.net/index.php?option=articles&task=viewarticle&artid=19&Item
Cancer Center
genetics Cancer ataxia Telangiectasia (AT). ataxia Telangiectasia(AT). There are mutations in some genes that potentially give
http://www.rush.edu/rumc/page-P07124.html

Extractions: Cancer Center There are mutations in some genes that potentially give a small predisposition to develop breast cancer. One example is ataxia telangiectasia (A-T). The risk for breast cancer may be increased for carriers of the A-T gene. Ataxia telangiectasia is a rare childhood disease that affects the nervous system and other body systems. A diagnosis of A-T is made when the following characteristics are present: lack of balance and slurred speech extreme sensitivity to ionizing radiation (for instance, radiation from x-rays) Ataxia telangiectasia is caused by mutations in a gene on chromosome 11 known as the ATM gene, which is involved in cell cycle control. This neurodegenerative disorder is inherited in an autosomal recessive fashion, which means that two mutated ATM genes are necessary to produce the condition - one inherited from each parent. Persons with only one ATM mutation are referred to as "carriers." Some studies suggest that persons who are carriers of an ATM mutation are at an increased risk to develop breast cancer. It is estimated that about one in 100 persons may be a carrier for an ATM mutation. This may lead one to believe that many people with breast cancer develop it because of an ATM mutation. When breast cancer patients are studied, however, they do not have an excess of ATM mutations as compared with persons without breast cancer. Therefore, the association between ATM mutations and breast cancer risk remains unclear.
Division Of Cancer Epidemiology And Genetics (DCEG): Branches: Radiation Epidemi
Cancer Risk in Relatives of ataxiaTelangiectasia Patients Heterozygote carriersof with the Nordic cancer registries and the genetics Epidemiology Branch, we
http://dceg.cancer.gov/people/KleinermanRuth.html

Extractions: Collaborators Ms. Kleinerman received a B.A. from Washington University in 1971 and a M.P.H. in 1979 from Boston University School of Public Health. Ms. Kleinerman joined the NCI Epidemiology and Biostatistics Program in 1979, and she is currently a staff scientist in the Radiation Epidemiology Branch. She was awarded the NIH Merit Award in 1990 for her collaborative studies on the risk of cancer following radiation exposure, the NCI DCEG Award for Outstanding Research Paper by a Staff Scientist in 2000 on lung cancer following Retinoblastoma, and the NIH Plain Language Award in 2001 and 2002 for a newsletter informing Retinoblastoma patients of cancer risk and a Guide for Health Care Providers about Radiation and Pediatric Computed Tomography.
Entrez PubMed
contributes to cerebellar microorganization. MeSH Terms Animals; Animals,Newborn/metabolism; ataxia/complications; ataxia/genetics*;
http://genomebiology.com/pubmed/10595523

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
Entrez PubMed
Acid Substitution; Anemia, Sideroblastic/genetics*; Blotting, Northern;Cerebellar ataxia/genetics*; Cloning, Molecular; Female; Ferrous
http://genomebiology.com/pubmed/10196363

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
RDInfo- Research And Development Information Charity Details
Comments Formally Friedreich s ataxia Group. Priority areas ataxia,genetics, nervous system. Charity Commission 1102391. Web Pages
http://www.rdinfo.co.uk/queries/ListCharityDetails.asp?CharityID=88
Dr. John T. Macdonald Foundation Center For Medical Genetics
(2003) Mutations in a covel CRALTRIO domain encoding gene cause Cayman ataxiaand ataxia/dystonia in the jittery mouse. Nature genetics - In press.
http://medgen.med.miami.edu/research/faculty_profiles/benke.asp

Extractions: Jackson Memorial Hospital Education B.A. Rutgers University, New Brunswick, New Jersey M.D. University of Pennsylvania, Philadelphia, Pennsylvania Ph.D. University of Wisconsin, Madison, Wisconsin Residency / Fellowship University of Wisconsin, Madison, Wisconsin Clinical Interests Research Interests Ongoing Projects Title The basis of systemic lupus erythematosus (SLE) Abstract This research is based on the original premise that the immune system attacks self because self has changed in SLE. This project will show how lupus patients generate antigens, and thereby the potential to generate antibodies. Molecular, immunologic and biochemical techniques will be used to show the specificity of the process. If this research is successful, it is likely that new approaches to therapy will be possible.
Detailed Record
aspects., Nervous system, Diseases, Molecular aspects., Genetic disorders., Spinocerebellarataxias, genetics., Friedreich ataxia, genetics., Myotonic Dystrophy
http://worldcatlibraries.org/wcpa/ow/b9d4a6d48f0d24b8a19afeb4da09e526.html
Cpeak 's Home Page
Multiple System Atrophy (MSA) Support Group (Also SDS) http//www.shydrager.com.National ataxia Foundation homepage http//www.ataxia.org. genetics
http://www.geocities.com/cpeak.geo/ref.html

Extractions: NON-PROFIT ORGANIZATIONS: A-T (Ataxia Telangiectasia) Children's Project http://ww2.med.jhu.edu/ataxia A-T Project http://www.atproject.org Ataxia MJ (Machado Joseph) Project http://www.ataxiamjd.org Ataxia Northwest (can't get their website to pull up) Episodic Ataxia-Books, Links, People http://www.ea.linkable.org Euro Ataxia newsletters http://www.vsn.nl/euroatax/newslett.htm Familial Spastic Paraparesis (or Paraplegia) (FSP) (also HSP) http://www.HSPinfo.org Friedreich's Ataxia Parents Group http://www.fortnet.org/fapg Friedreich's Ataxia Association of New South Wales http://www.faa.org.au Friedreich's Ataxia Research Alliance (FARA) http://www.frda.org Hereditary Spastic Paraparesis (or Paraplegia) (HSP) (also FSP) http://www.HSPinfo.org Hereditary Spastic Paraparesis information brochure http://hspinfo.org/HF-FAQ.pdf Internaf http://www.internaf.merseyside.org Muscular Dystrophy Association of US http://www.mdausa.org Multiple System Atrophy (MSA) Support Group (Also SDS) http://www.shy-drager.com
Pipet's Parlour: Frataxin: References
F., Koenig, M., Sidi, D., Munnich, A., and Rustin, P. Aconitase and mitochondrialironsulphur protein deficiency in Friedreich ataxia. Nature genetics 17, 215
http://www.geocities.com/CapeCanaveral/Lab/6801/refer.html

Extractions: Deciphering the Role of Frataxin 4. References Durr, A. Cossee, M., Agid, Y. Campuzano, V., Mignard, C., Penet, C., Mandel, J.L., Brice, A., and Koenig, M. Clinical and genetic abnormalities in patients with Friedreich's ataxia. New England Journal of Medicine Finocchiaro, G. Baio, G., Micossi, P., Pozza, G., and Di Donato, S. Glucose metabolism alterations in Friedreich's ataxia. Neurology Wood, N. Diagnosing Friedreich's ataxia. Archives of Disease in Childhood Campuzano, V., Montermini, L., Molto, M.D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Canizares, J., Koutnikova, H., Bidichandani, S.I., Gellera, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., De Frutos, R., Palau, F., Patel, P.I., Di Donato, S., Mandel, J-L., Cocozza, S., Koenig, M., and Pandolfo, M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA repeat expansion. Science Koutnikova, H., Campuzano, V., Foury, F., Dolle, P., Cazzalini, O., and Koenig, M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
BU Department Of Molecular Biology And Genetics Home Page
Turks and comparison to Europeans and Indians.Annals of Human genetics 64, 33 Splicingdefects in the ataxiaTelangiectasia gene ATM underlying mutations and
http://www.bio.boun.edu.tr/asli-cv-tr.html

Extractions: YAYINLAR: . High Frequency of 9T and CFTR Mutations in Children with Idiopathic Bronchiectasis. JMG in press. Tolun A (2002). Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of alleles in Turkish patients. Amer J Med Genet Tolun A (2001). Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients. Clin Genet Tolun A. (2001). Comment on Holger Breithaupt's article 'Losing them is not an option' in EMBO reports , August 2001 (Correspondence). EMBO Reports Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Côrte-Real HBSM, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PJ, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A , Villems R, Tyler-Smith R, Jobling MA (2000). Y-chromosomal diversity within Europe is clinal and influenced primarily by geography rather than language.

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