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         Ataxia Genetics:     more books (24)
  1. Ataxia-telangiectasia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Genevieve, PhD Slomski, 2005
  2. Friedreich ataxia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Toni, MS, CGC Pollin, 2005
  3. Spinocerebellar ataxia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
  4. 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)
  5. The Hereditary Ataxias and Related Disorders (Clinical Neurology and Neurosurgery Monographs, Volume 6) by A. E. Harding, 1984-12
  6. Autosomal dominant spinocerebellar ataxia: A genetic linkage map of genes associated with the disease locus by Patricia Jean Wilkie, 1988
  7. Ataxia-Telangiectasia: Genetics, Neuropathology, & Immunology of the Degenerative Disease of Childhood
  8. Invited Comments.(spinocerebellar ataxia) : An article from: Neurology India
  9. High prevalence of spinocerebellar ataxia type 1 in an ethnic Tamil community in India.(Original Article) : An article from: Neurology India
  10. 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
  11. On hereditary ataxia and spastic paraplegia (The treasury of human inheritance) by Julia Bell, 1939
  12. Ataxia-telangiectasia: A practical guide for genetics professionals: (Dissertation) by Jennifer Schmidt, 2005-12-01
  13. Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanism in related Amish sibships by Victor A McKusick, 1966
  14. Ataxia-Telangiectasia (Nato a S I Series Series H, Cell Biology) by Richard A. Gatti, 1993-10

41. Entrez PubMed
cardiomyopathy or absent deeptendon reflexes. MeSH Terms Canada;DNA/analysis; Female; Friedreich ataxia/genetics*; Haplotypes; Human;
http://www.biomedcentral.com/pubmed/8870928
Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ...
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Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central 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
Am J Med Genet. 1996 Sep 6;64(4):594-601. Related Articles, Links
Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes. Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melancon SB.

42. 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

43. 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
PR Web (English)
AmbosMedios (Español

WunZhang (Traditional Chinese

Home
... Search Archives June 7, 2004 CUSTOM NEWS FEED FOR JOURNALISTS MEMBER LOGIN (SUBMIT YOUR PRESS RELEASE) Customize your free daily PRWEB news feed. Register Here to Send Your Press Release ...
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, 2004—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).
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.

44. 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
Tour Become a Member ... Customer Support Question / Keyword(s): Advanced Search
  • Current Article: Ataxia-telangiectasia and the nijmegen breakage syndrome: related disorders but genes apart.
Start A Annual Review of Genetics January 01, 1997 ... Ataxia-telangiectasia and the nijmegen breakage syndrome: related disorders but genes apart.
Ataxia-telangiectasia and the nijmegen breakage syndrome: related disorders but genes apart.
Annual Review of Genetics; January 01, 1997; Shiloh, Y.
Shiloh, Y.
Annual Review of Genetics
January 01, 1997
cell cycle, ataxia telangiectasia, dna damage, ionizing radiation, a-t cells, a-t, a-t patients, breakage syndrome, atm gene, cancer res, nijmegen breakage, atm protein, atm, signal transduction, ataxia-telangiectasia
OVERVIEW
Gene mutations provide valuable clues to cellular metabolism. While
experimental organisms are amenable to genetic manipulations, in humans
such insights come mainly from genetic disorders caused by naturally
occurring mutations. The expression of such mutations at the clinical

45. 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
Current Ataxia News - October 1997
This article submitted by Pam Bower on 11/6/97.
Email Address: pbower@inforamp.net
Topics of the day: 1. Nature Genetics: Studies of human, mouse and yeast homologues indicate a
mitochondrial function for frataxin 2. Human Molecular Genetics: Frataxin is reduced in Friedreich ataxia
patients and is associated with mitochondrial membranes 3. Human Molecular Genetics: Transgenic models of Huntington's disease (CAG
repeat diseases discussed) 4. Nature Genetics: Gene for SCA7 is cloned! 5. Major medical advance: scientists discover cause of brain cell death
http://genetics.nature.com/cgi-bin/wilma.cgi/v16n4.869080057.html Nature Genetics
Volume 16 Number 4 - August 1997 articles Studies of human, mouse and yeast homologues indicate a mitochondrial
function for frataxin Hana Koutnikova1, Victoria Campuzano1, Françoise Foury2, Pascal Dollé1,
Moléculaire et Cellulaire (IGBMC), INSERM, CNRS, Universit Louis Pasteur, 1
rue Laurent Fries, BP 163, 67404 Illkirch Cedex-Strasbourg, France. 2Unité de Biochimie Physiologique, Université Catholique de Louvain, Place Croix

46. 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
Cancer Genetics Web
www.cancer genetics.org
ATM ; Ataxia telangiectasia mutated (includes complementation groups A, C and D) (11q22.3) ATM Menu Summary Information - ATM
Gene Database Entries for ATM

Other ATM Related Resources

Overview of ATM and Cancer
...
Feedback / suggest a new topic for ATM

Search: Summary Information
ATM; Ataxia telangiectasia mutated (includes complementation groups A, C and D)
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
Gene Database Entries for ATM
OMIM

GeneCard
(Weizmann Institute)
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Human Gene Mutation Database (Cardiff, UK) Locus Link UniGene GenAtlas GDB ... Nomenclature (search for ATM) Return to ATM Contents Other Related Resources
Search Medline for related articles (PubMed)
  • Medline Search: cancer AND gene AND (ATM[TI] OR ATA[TI] OR ATC[TI]) (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews]
  • Return to ATM Contents Overview of ATM and Cancer
  • Khanna KK Cancer risk and the ATM gene: a continuing debate.
  • 47. 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

    48. 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
    The Scientist 13[9]:14, Apr. 26, 1999
    Research
    Research: Ataxia Discoveries Open Window to Neurodegeneration
    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.

    49. 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
    ataxia : A serious medical condition. Resources to obtain and further understanding of the topic. A starting point for researchers, physicians, medical school students, health and policy professionals, and other biotechnology and science professionals. (Not recommended to the lay public).
    Highly Recommended Resources
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    bookmark this page for easy return ... you just might think of something later. Informatorium recommendations listed below: Your Book Search Results
    for: the keywords include "ataxia" Top matches for this search:
  • 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
  • 50. 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

    51. 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
    Bone Marrow Transplant
    Gynecologic Oncology
    Myeloid Disease
    Cancer Center
    Ataxia Telangiectasia (A-T)
    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
      ataxia (lack of muscle control leading to an awkward gait when walking)
      telangiectasias (tiny, red "spider" veins) in the corners of the eyes or surfaces of the ears and cheeks (soon after the onset of ataxia)
      weak immune system
      increased risk of leukemia
      increased risk of lymphoma
      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.

    52. 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

    Home
    Organization Research Publications Search: Overview Branches Radiation Epidemiology Branch Staff Ruth A. Kleinerman, M.P.H.
    Epidemiologist
    Location:
    Executive Plaza South, Room 7044
    Phone:
    Fax:
    E-mail:
    kleinerr@mail.nih.gov
    Biography
    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.
    Research Interests
    • Gene-environment interaction in retinoblastoma patients Cancer in Ataxia-Telangiectasia patients and their relatives Radon, air pollution and lung cancer

    53. Entrez PubMed
    contributes to cerebellar microorganization. MeSH Terms Animals; Animals,Newborn/metabolism; ataxia/complications; ataxia/genetics*;
    http://genomebiology.com/pubmed/10595523
    Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ...
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    Neuron. 1999 Nov;24(3):739-50. Related Articles, Links
    Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression. Berglund EO, Murai KK, Fredette B, Sekerkova G, Marturano B, Weber L, Mugnaini E, Ranscht B.

    54. Entrez PubMed
    Acid Substitution; Anemia, Sideroblastic/genetics*; Blotting, Northern;Cerebellar ataxia/genetics*; Cloning, Molecular; Female; Ferrous
    http://genomebiology.com/pubmed/10196363
    Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ...
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    Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central 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
    Hum Mol Genet. 1999 May;8(5):743-9. Related Articles, Links
    Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM.

    55. 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

    56. 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
    • HOME PAGE Research
      • Faculty and Staff Ongoing Projects ...
        MAP

        June 7, 2004 Paul J. Benke, M.D., Ph.D., F.A.A.P.
        Associate Professor Mailing address P.O. Box 016820
        Miami, FL 33101-6820 Visits/Delivery address Room 5048, Division of Medical Genetics
        Department of Pediatrics
        Mailman Center for Child Development
        1601 N.W. 12th Avenue
        Miami, FL 33136 Tel. 305-243-6091
        Email pbenke@peds.med.miami.edu
        Departmental Affiliations Department of Pediatrics Board Certifications American Board of Medical Genetics
        • Clinical Genetics Biochemical Genetics
        American Board of Pediatrics Practice Locations Mailman Center for Child Development 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
        • Metabolic disorders Clinical dysmorphology Developmental delay
        Research Interests
        • Systemic autoimmune diseases Cerebellar ataxia
        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.

    57. Detailed Record
    aspects., Nervous system, Diseases, Molecular aspects., Genetic disorders., Spinocerebellarataxias, genetics., Friedreich ataxia, genetics., Myotonic Dystrophy
    http://worldcatlibraries.org/wcpa/ow/b9d4a6d48f0d24b8a19afeb4da09e526.html
    About WorldCat Help For Librarians Triple repeat diseases of the nervous system
    Lubov T Timchenko
    Find libraries with the item Enter a postal code, state, province or country
    WorldCat is provided by OCLC Online Computer Library Center, Inc. on behalf of its member libraries.

    58. 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
    References to Ataxia, Medical, Genetic and Coping Links
    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

    59. 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
    pipet's parlour
    FRDA references
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    Bipolar disorder

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    NIH Mock Proposal
  • Specific Aims
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    book list
    about pipet suggest a link ... home Click on the graphic to vote for this site as a Starting Point Hot Site 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.
  • 60. 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
    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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