61. Radiosensitivity Of Ataxia Telangiectasia And Nijmegen Breakage Syndrome Homozyg Radiosensitivity of ataxia Telangiectasia and Nijmegen Breakage Syndrome Homozygotesand b Department of genetics, Yerevan State University and Institute of http://apt.allenpress.com/aptonline/?request=get-abstract&issn=0033-7587&volume=

62. Entrez PubMed SerineThreonine Kinases/genetics*; Risk; Support, Non-US Gov t; Support, US Gov t,PHS. Substances Protein-Serine-Threonine Kinases; ataxia telangiectasia mutated http://breast-cancer-research.com/pubmed/12473176

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 ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database 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 Breast Cancer Res. 2002;4(6):R15. Epub 2002 Aug 21. Related Articles, Links No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. Spurdle AB, Hopper JL, Chen X, McCredie MR, Giles GG, Newman B, Chenevix-Trench G, Khanna K.

63. Karger Publishers Paper. Molecular genetics of spinocerebellar ataxia type 8 (SCA8) AK Mosemiller a,c, JC Dalton a,c , JW Day b,c , LPW Ranum a,c Departments of a genetics, Cell http://content.karger.com/ProdukteDB/produkte.asp?Doi=72852

64. Medline Record 83183688 genetics physiopathology; Fibroblasts pathology; Friedreich s ataxiagenetics physiopathology; Skin pathology physiopathology. http://www.aeiveos.com/Aging/Authors/holliday-r/83183688.html

Title: Genetic effects on the longevity of cultured human fibroblasts. II. DNA repair deficient syndromes. Author(s): Thompson KV; Holliday R Address: Source: Gerontology 1983;29(2):83-8 Abstract: The lifespan of fibroblasts from genetic syndromes with reduced DNA repair or chromosome stability has been measured. Cells from Bloom's syndrome, Cockayne's syndrome, Fanconi's anaemia and 2 out of 3 cases of ataxia telangiectasia had a significantly reduced growth potential in comparison to controls. In each case the longevity of several parallel populations was measured and the greatest variability in lifespan was observed with Cockayne's syndrome cells. The fibroblasts from 1 ataxia telangiectasia patient and a Friedreich's ataxia patient grew to the passage levels seen in control cultures. The results suggest that repair processes are necessary for cells to achieve their maximum in vitro lifespan, and support the error theory rather than the programme theory of ageing Major Indexes: DNA Repair Fibroblasts [physiology] Minor Indexes: Aged Ataxia Telangiectasia [genetics] [physiopathology] Bloom Syndrome [genetics] [physiopathology] Cell Survival Cells, Cultured

65. Medline Record 91311481 diagnosis of MELAS was made. Major Indexes Cerebellar ataxia genetics;DNA, Mitochondrial genetics; Epilepsy, Myoclonic genetics; http://www.aeiveos.com/Aging/Authors/byrne-e/91311481.html

Title: Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA. Author(s): McKelvie PA; Morley JB; Byrne E; Marzuki S Address: Department of Pathology, University of Melbourne, Australia. Source: J Neurol Sci 1991 Mar;102(1):51-60 Abstract: Major Indexes: Cerebellar Ataxia [genetics] DNA, Mitochondrial [genetics] Epilepsy, Myoclonic [genetics] Hearing Loss, Sensorineural [genetics] Kearns Syndrome [genetics] Neuromuscular Diseases [genetics] Quinone Reductases [deficiency] Minor Indexes: Adult Brain [pathology] Cerebellar Ataxia [pathology] Chromosome Deletion Diseases in Twins Epilepsy, Myoclonic [pathology] Hearing Loss, Sensorineural [pathology] Kearns Syndrome [pathology] Mitochondria, Muscle [pathology] Neuromuscular Diseases [pathology] Quinone Reductases [genetics] Syndrome Reagent Names: EC 1.6.99. (Quinone Reductases) EC 1.6.99.2 (NAD(P)H Dehydrogenase (Quinone)) 0 (DNA, Mitochondrial) Language: English Periodical Type: JOURNAL ARTICLE

66. U.I.M-Pompeu Fabra Translate this page C, Sequeiros J, Silveira I Análise molecular de 8 genes com repetições de tripletosem famílias com ataxia hereditária. XXXVII genetics Conference, 2001. http://www.upf.edu/cexs/recerca/uim/membres/grup1_coelho.html

João Coelho e-mail: jcoelho@upf.edu telf : +34 93 542 28 94 Personal Details Name: João Coelho Date of birth: Place of birth: S.Gonçalo - Amarante Nationality: Portugal Academic Qualifications BSc in Biology, Faculty of Sciences, University of Oporto Honors and awards: Nov.2001 - : PhD student accepted in GABBA program (Graduation in Basic and Applied Biology Areas) from the University of Oporto July 2001 - Nov. 2001: BTI fellowship of the project "Genetic study of migraine" UnIGENe - IBMC - University of Oporto May 2000 - July 2001: BTI fellowship of the project "Genetic study of spinocerebellar ataxia and hereditary spastic paraplegia" UnIGENe - IBMC - University of Oporto Nov.1999 - May 2000: Trainee student in molecular genetics. UnIGENe - IBMC - University of Oporto LIST OF INTERNATIONAL PUBLICATIONS Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P: A unique CACNA1A missense mutation causes phenotypes of spinocerebellar ataxia type 6 (SCA6) and familial hemiplegic migraine (FHM) in patients from a large family. Arch Neurol (submitted ). Silveira I, Miranda C, Guimaraes L, Moreira MC, Alonso I, Mendonça P, Ferro A, Pinto-Basto J, Coelho J, Ferreirinha F, Poirier J, Parreira E, Vale J, Januario C, Barbot C, Tuna A, Barros J, Koide R., Tsuji S, Holmes SE, Margolis RL, Jardim L, Pandolfo M, Coutinho P and Sequeiros J: Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 Locus. Arch Neurol 59:623-9, 2002.

67. Ocular Motor Apraxia: The Genetics Of OMA I am very interested in the genetics of OMA. Has anyone been confronted withthe possibility of ataxia Telangiectasia regarding their child. http://wwweb.org/oma/messages/218.html

OMA Message Board message Ref: http://wwweb.org/oma/messages/218.html Look at replies to this message Reply to this message Return to OMA Message Board Index Page ... Help file The Genetics of OMA From: Astra Lorance, e-mail: LoranceA@honcompany.com Date: 07 Aug 1998 at 15:13 Replying to: message 2.html I am very interested in the genetics of OMA. I have spoken with a wonderful geneticist in the past regarding my son and she said that my husband, Jason, and I should both be tested for genetic abnormalities. Has anyone been confronted with the possibility of 'Ataxia Telangiectasia' regarding their child. It is my understanding that OMA can be a product of Ataxia. Generally, the geneticist said that, children who are improving with OMA will NOT have Ataxia, but I am scared to death to have another child with this possibility looming over our heads. Usually Ataxic children die in early adolescence. We are very grateful for our son Jamie, who was diagnosed with OMA by DR. Hoyt in San Fran. For the first 1+ year of his life he was diagnosed with Opsyclonus/Myoclonus, which has a very undesirable prognosis. Jamie is the light of our lives and we would love to be able to give him a brother or sister some day because he is so loving and wants to be around other children. I would not mind the possibility of having another OMA child, since the difficulties are not so great that they will never experience the joy of a 'normal' life. Jamie is abnormal in only the most special ways. Any information you could share would be helpful.

68. Imperial - Medical Genetics The main areas of current molecular genetics research are congenital heart femalereproductive disorders and disorders of pregnancy; and Friedreich’s ataxia. http://www1.imperial.ac.uk/medicine/about/divisions/medicine/medical_genetics/de

Quick Navigation Imperial home page A-Z of Departments Courses Research Alumni Tanaka Business School Faculty of Engineering Faculty of Life Sciences Faculty of Medicine Faculty of Physical Sciences Spectrum (restricted to College users) People finder Help Your browser does not support javascript or you have javascript turned off. Although this will not affect your accessibility to the content of this site, some of the advanced navigation features may not be available to you. Faculty of Medicine About the Faculty Divisions and Departments Medicine Medical Genetics Note: Some of the graphical elements of this site are only visible to browsers that support accepted web standards . The content of this site is, however, accessible to any browser or Internet device. »  ..up.. »  Medical Genetics Medical Genetics Sharing space with the North West Thames NHS Regional Genetics Service (Kennedy Galton Centre) at Northwick Park Hospital, the Section undertakes community and patient-based genetics research.  The Section has 16 staff and research students including four academics. The main areas of current molecular genetics research are congenital heart defects and chromosome 21 in Down's syndrome; genes involved in obesity, female reproductive disorders and disorders of pregnancy; and Friedreich’s ataxia.  The Section forms the Imperial College London arm of the London IDEAS Genetics Knowledge Park, a government funded programme of research and education uniting London Medical Schools and NHS genetics service providers.

69. »»Ataxia Reviews«« ataxiatelangiectasia genetics, neuropathology, and immunology of a degenerativedisease of childhood proceedings of a conference held in Solvang http://www.health-issue-books.com/Assisted-Breathing/Ataxia/

Ataxia Reviews Related Subjects: Assisted-Breathing More Pages: Ataxia Page 1 Book reviews for "Ataxia" sorted by average review score: A Balancing ActLiving With Spinal Cerebellar Ataxia Published in Plastic Comb by Scripts Publishing (18 September, 1996) Author: Patricia Birdsong Hamilton Amazon base price: Average review score: Very Help and easy to read This book is about the author's story regarding her Ataxia disease. I become very knowledgable about this disease when my doctor tells me I have it. I find a lot of similiar things happened to me the author described in this book. Also, there are a lot of helpful tips and suggestion near the end of this book to help me cope with this disease. And it is quite comforting to know how other people deals with it. A Balancing Act-Living with Spinal Cerebellar Ataxia It was comforting to read about the trials that another individual has had to deal with over the course of the years since being diagnosed. I too am affilicted with this dis-ease, several other neuro-diseases as well as being a disabled Veteran. I have kept journals but have not shared them with anyone other than close family members. Ms. Hamilton has helped me to take a step, so to speak, toward getting my experiences out in the open. Thank you Ms Hamilton for your courage and determination. I empathize with you on so many levels. Very good inspirational book Pat does a very good job in describing her life and how it was to live with a debilitating disease such as Ataxia. In it, she also describes how she went about applying for social security and the barriers she had to overcomea very good book for those facing challenges or diseases (not just Ataxia) and how to overcome them. It is also a good book for anyone wishing to understand what a person with a disability has to go through to succeed in lifea very good book

70. Congressman William Tauzin - LA03 lead an international conference on Friedreich s ataxia held at the National Institutesof Health. The Center s next public symposium on genetics will be held http://www.house.gov/tauzin/testimony_030513.htm

Submitted Testimony of Congressman Billy Tauzin House Appropriations Subcommittee on Labor, Health and Human Services, and Education May 13, 2003 FY 2004 Appropriation Request for the Center for Acadiana Genetics and Hereditary Health Care Request: $1.7 million Thank you Mr. Chairman for the opportunity to address the Subcommittee. Accompanying me today is Mr. Keith Andrus, an 11 th -grade student who is afflicted with Friedreich's Ataxia. Friedreich's Ataxia and Usher Syndrome (deaf-blindness) are rare disorders which occur in the rural, medically underserved Cajun population of Louisiana at rates 2 1/2 times the national average. With the support of this subcommittee, the Center for Acadiana Genetics and Hereditary Health Care was established at LSU through a Rural Health Outreach grant administered by the Health Resources and Services Administration (HRSA) in FY '99. Your subcommittee has continued to recognize the merits of this program and has appropriated funds for the Center for the past 5 fiscal cycles. I would like to thank you for your support. These appropriations created and continue to support the Center for Acadiana Genetics and Hereditary Health Care so it can continue its vital work.

71. Entrez PubMed common types of migraine. MeSH Terms Base Sequence; Calcium Channels/chemistry;Calcium Channels/genetics*; Cerebellar ataxia/genetics*; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

72. Entrez PubMed ataxia Telangiectasia/genetics*; ataxia Telangiectasia/physiopathology;Cerebellar ataxia/genetics*; Cerebellar ataxia/physiopathology; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

73. Entrez PubMed Epilepsies, Myoclonic/genetics; Friedreich ataxia/genetics; GeneticDiseases, Inborn/genetics*; Genetic Markers; Human; Huntington Disease http://arthritis-research.com/pubmed/9199574

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 ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database 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 Hum Genet. 1997 Jun;60(6):1513-31. Related Articles, Links Fine-scale genetic mapping based on linkage disequilibrium: theory and applications. Xiong M, Guo SW.

74. Nature Genetics volume 15 number 1 page 62 Autosomal dominant cerebellar ataxia (SCA6) associatedwith small polyglutamine expansions in the alpha 1A voltage-dependent http://www.nature.com/ng/wilma/v15n1.861210995.html

article RETURN TO January 1997 TABLE OF CONTENTS volume 15 number 1 page 62 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha -voltage-dependent calcium channel Olga Zhuchenko , Jennifer Bailey , Penelope Bonnen , Tetsuo Ashizawa , David W. Stockton , Chris Amos , William B. Dobyns , S.H. Subramony , Huda Y. Zoghbi A polymorphic CAG repeat was identified in the human alpha calcium channel subunit. The CAG repeat is within the open reading frame and is predicted to encode glutamine in three of the isoforms. We conclude that a small polyglutamine expansion in the human alpha calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.

75. Nature Genetics 1 The Hereditary ataxia Research Group, Department of Biochemistry andMolecular genetics, Imperial College School of Medicine at St. http://www.nature.com/ng/wilma/v14n2.868300820.html

articles RETURN TO October 1996 TABLE OF CONTENTS volume 14 number 2 page 157 The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase Jaime J. Carvajal , Mark A. Pook , Maria dos Santos , Kit Doudney , Renate Hillermann , Shane Minogue , Robert Williamson , J. Justin Hsuan The gene on chromosome 9 was recently 'excluded' as a candidate for Friedreich's ataxia following the identification of an expanded intronic GAA triplet repeat in the adjacent gene, , in patients with the disease. Using RT-PCR, northern and sequence analyses, we now demonstrate that comprises part of the gene, contributing to at least four splice variants, and report the identification of new coding sequences. Functional analysis of the STM7 recombinant protein corresponding to the reported 2.7-kilobase transcript has demonstrated PtdInsP 5-kinase activity, supporting the idea that the disease is caused by a defect in the phosphoinositide pathway, possibly affecting vesicular trafficking or synaptic transmission. Protein Biochemistry Group, Ludwig Institute for Cancer Research, University College School of Medicine, London W1P 8BT, UK

76. MedlinePlus: Ataxia Telangiectasia Project). genetics; genetics Home Reference ataxiatelangiectasia (NationalLibrary of Medicine); How is ataxia-Telangiectasia Inherited? http://www.nlm.nih.gov/medlineplus/ataxiatelangiectasia.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Ataxia Telangiectasia Contents of this page: From the NIH General/Overviews Diagnosis/Symptoms Research ... Information from the Medical Encyclopedia Search MEDLINE for recent research articles on Ataxia Telangiectasia You may also be interested in these MedlinePlus related pages: Movement Disorders Brain and Nervous System Genetics/Birth Defects From the National Institutes of Health Ataxia Telangiectasia (National Institute of Neurological Disorders and Stroke) - Short Summary Questions and Answers: Ataxia Telangiectasia (National Cancer Institute) General/Overviews Ataxia-Telangiectasia (Jeffrey Modell Foundation) What is Ataxia-Telangiectasia? (Ataxia-Telangiectasia Children's Project) Diagnosis/Symptoms Gene Testing (Dept. of Energy, Human Genome Project) Research Race for a Cure: Basic Science Research (Ataxia-Telangiectasia Children's Project) Genetics Genetics Home Reference: Ataxia-telangiectasia (National Library of Medicine) How is Ataxia-Telangiectasia Inherited?

77. Funded Research - MRC Record MeSH Terms. ANIMAL HUMAN MICE Prions .genetics Cerebellar ataxia .geneticsGenetic Markers Immunohistochemistry DNA Insertion Elements. http://fundedresearch.cos.com/cgi-bin/MRC/getRec?G9818420

78. BIO-MEDICAL SCIENCES Genetics BIOMEDICAL SCIENCES genetics. Predominance of Mutations with Extensive Deletionsin ataxia Telangiectasia Lymphoblastoid Cells Treated with Ionizing Radiation. http://www.nirs.go.jp/report/nene/H8/nene-08.htm

BIO-MEDICAL SCIENCES Genetics Cryopreservation of Embryo and Spermatozoa for Strain Maintenance of Mice A Recessive Lethal Mutation, tb , That Bends the Midbrain Region of the Neural Tube in the Early Embryo of the Medaka ... Subcellular Localization and Expression of the Human DNA Double-Strand Break Repair Genes Ku p70, Ku p80/XRCDC5 and DNA-PKcs a Higher Contents 48. Cryopreservation of Embryo and Spermatozoa for Strain Maintenance of Mice Masanori Okamoto, Tsuneya Mastumoto, Naomi Nakagata‚P and Hiroshi Suzuki‚Q (‚PInstitute of Medical Science, Univ. of Tokyo, ‚QChugai Pharmaceutical Co., Ltd.) Keywords: cryopreservation, embryo, mouse, spermatozoa, strain maintenance Publications: 1) Okamoto, M. and Mastumoto, T. : Germfree Life and its Ramifications, K.Hashimoto et al.(eds.), XIIth ISG Publishing Committee, 21-24, 1996. 2) Aoki, K., Okamoto, M., Tatsumi, K. and Ishikawa, Y. : Zoological Science, 14, 641-644, 1997. 3) Nakagata, N., Okamoto, M., Ueda, O. and Suzuki, H.FBiol. Reprod., 57, 1050-1055, 1997. 4) Okamoto, M., Nakagata, N., Ueda, O., Kamada, N. and Suzuki, H.FJ. Mamm. Ova Res., 15, in press, 1998

79. Revista Do Hospital Das Clínicas - Lateonset Friedreich s ataxia molecular genetics, clinical neurophysiology,and magnetic resonance imaging. Arch Neurol 1993;50803-806. Medline . 20. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812001000500003&l

80. Friedreich's Ataxia Fact Sheet Friedreich's ataxia fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS) In Friedreich's ataxia, ataxia results from the degeneration of nerve tissue in the http://www.ninds.nih.gov/health_and_medical/pubs/friedreich_ataxia.htm

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 90    Back | 1  | 2  | 3  | 4  | 5  | Next 20