1. Arch Neurol Abstract Molecular Genetics Of Hereditary . Ataxia. . Neurogenetics. . Topic Collection Alerts Molecular Genetics of Hereditary Spinocerebellar Ataxia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

2. Friedreich Ataxia - Genetics Home Reference What if I still have specific questions about Friedreich ataxia? See How can I find a genetics professional in my area? in the Handbook. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Ataxia-telangiectasia - Genetics Home Reference What if I still have specific questions about ataxiatelangiectasia? See How can I find a genetics professional in my area? in the Handbook. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Friedreich Ataxia Genetics Friedreich ataxia genetics Articles http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Ataxia Telangiectasia Genetics Ataxia Telangiectasia genetics Articles http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Predisposing Chromosome For Spinocerebellar Ataxia Type 6 (SCA6) Related Collections Genetics Neuromuscular disease Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. The GAA Triplet-repeat Sequence In Friedreich Ataxia Shows A High Human Molecular Genetics, 2002, Vol. 11, No. 18 21752187 2002 Oxford University Press. The GAA triplet-repeat sequence in Friedreich ataxia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Genetics Cancer - Ataxia Telangiectasia (A-T) Health of Genetics T) Ataxia Telangiectasia (AT)......Nutrition Cancer Alternative Therapy. Pain Management Health Information http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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11. Doctor Online - Courses Available On CD The Expanding Spectrum of ataxia genetics Brain Atrophy Rates Vary in DementiasRecumbency Following Spinal Tap The Oral Triptans, Add Remove http://www.doctoronline.nhs.uk/masterwebsite/courses/coursesThruWorldPay/II/aspC

12. I998: Sarah ?? (____ - ____) But it is thought that this had no effect on the ataxia genetics. Sister Betsymarried Peter Johnson and had 4 children, Elva, Pearl,Ethyl, and Monford. http://www.usgennet.org/family/coy/d0001/g0000065.html

Sarah Family 1 William CHAMBERS MARRIAGE Sarah (Sally) CHAMBERS Sarah INDEX HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998) on 05/18/99 08:46:10 Ronald BATHMAKER Family 1 Sylvia Angela GINSBURY MARRIAGE : 23 Mar 1967, Croydon, England Ronald BATHMAKER INDEX Imported GEDCOM file HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998) on 05/18/99 08:46:10 Jonathan (2) BREWSTER 17 Jul 1629 - BIRTH : 17 Jul 1629, Plymouth, Plymouth, Mass Father: Jonathan(1) BREWSTER Mother: Lucetria OLDHAM Jonathan (2) BREWSTER _William OULDHAM _Lucetria OLDHAM ... INDEX Imported GEDCOM file HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998) on 05/18/99 08:46:10 Louisa COY 30 Jun 1793 - BIRTH : 30 Jun 1793, Hartford, Vt. Father: Edward (Edee) COY Mother: Flavia GIBSON _Silas COY Louisa COY INDEX Imported GEDCOM file HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998) on 05/18/99 08:46:10 George W. GLIDDEN Father: Jacob GLIDDEN Mother: Almira COY George W. GLIDDEN _Samuel(4) B. COY _Almira COY ... INDEX Imported GEDCOM file HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998)

13. Friedreich Ataxia - Genetics Home Reference Friedreich ataxia is a genetic condition that damages nerve tissue, causing aloss of muscle coordination (ataxia) that worsens over time. http://ghr.nlm.nih.gov/condition=friedreichataxia

Home What's New Browse Handbook ... Search Friedreich ataxia Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Friedreich ataxia On this page: What is Friedreich ataxia? How common is Friedreich ataxia? ... help with understanding Friedreich ataxia? What is Friedreich ataxia? Friedreich ataxia is a genetic condition that damages nerve tissue, causing a loss of muscle coordination (ataxia) that worsens over time. Other characteristics of this condition include the gradual loss of strength and sensation in arms and legs, muscle stiffness (spasticity) in the limbs, and impaired speech. Friedreich ataxia may also affect heart function. Typically, signs and symptoms of Friedreich ataxia first appear in childhood or the early teens. Poor balance when walking and slurred speech are often the initial symptoms. About 25 percent of cases, however, occur after age 25. These cases are classified as late-onset Friedreich ataxia (LOFA), with onset between 26 and 39 years, or very late-onset Friedreich ataxia (VLOFA), which begins at age 40 or older. How common is Friedreich ataxia?

14. Molecular Neurogenetics Frankfurt, Georg Auburger Research on genetics of polyglutamine neurodegeneration, such as Huntington and spinocerebellar ataxia 2, as well as stroke spasticity and Parkinsons disease at Goethe University Hospital, Frankfurt, Germany. http://www.kgu.de/znn/neurologie/mol-neurogenet/

Section Molecular Neurogenetics, Georg Auburger Research Professor in Neurology Building 26, Room 509, J. W. Goethe - Universität, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany Tel: +49-69-6301-7428, FAX: +49-69-6301-7142, E-mail: auburger@em.uni-frankfurt.de location-structure staff projects collaborators ... mail-to-webmaster

15. Ataxia-telangiectasia - Genetics Home Reference genetics Home Reference your guide to understanding genetic conditions Where can I find additional information about ataxiatelangiectasia? http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia

Home What's New Browse Handbook ... Search Ataxia-telangiectasia Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Ataxia-telangiectasia On this page: What is ataxia-telangiectasia? How common is ataxia-telangiectasia? ... help with understanding ataxia-telangiectasia? What is ataxia-telangiectasia? Ataxia-telangiectasia is a rare inherited disorder of childhood that affects the nervous system and other body systems. This disorder is characterized by difficulty with coordinating movements (ataxia) beginning early in childhood. Children often have difficulty walking, a lack of balance, abnormal eye movements, and slurred speech. Small groups of blood vessels called telangiectases, which look like red "spider" veins, are also characteristic of the condition. Children with ataxia-telangiectasia often have multiple lung infections and are at an increased risk of developing cancer (particularly leukemia and lymphoma). They are also very sensitive to the effects of radiation exposure, including x-rays. People with ataxia-telangiectasia usually live into adulthood, but their life expectancy is reduced.

16. Ataxia: Dominant Dominant Spinocerebellar ataxia (SCA) CAG repeat disorders. ataxias SCA1; SCA2;SCA3; SCA6; genetics Pentanucleotide repeat ATTCT in SCA 10 gene http://www.neuro.wustl.edu/neuromuscular/ataxia/domatax.html

Front Search Index Links ... Patient Info HEREDITARY ATAXIAS: DOMINANT Spinocerebellar Ataxia (SCA) : Ataxin-1; CAG repeat; 6p23 : Ataxin-2; CAG repeat; 12q24 : Ataxin-3; CAG repeat; 14q32 : Puratrophin-1; 16q22 Ca channel; CAG repeat; 19p13 : Ataxin-7; CAG repeat; 3p14 : ATTCT repeat; 22q13 : PRKCG; 19q13.4-qter : TBP; CAG repeat; 6q27 SCA Unlinked Ataxia Syndromes SCA: Differential features Episodic ataxias (EA) ... EA 1 with Myokymia : KCNA 1; 12p13 EA 2, Paroxysmal Ca channel; 19p13 EA 3 EA 4 Cajal Other dominant ataxia syndromes Adult-onset leukodystrophy CAPOS syndrome DRPLA : DRPLA protein; CAG repeat Familial dementia Glucose transporter 1 deficiency Holmes ataxia Huntington 2: Junctophilin-3; CAG/CTG repeat Mental retardation Multiple hamartoma syndrome : PTEN; 10q23 Myelocerebellar Neuronal intranuclear inclusion disease Nystagmus Parenchymal degeneration ... Prion disease : Prion protein; 20p12 Sensory-Motor Neuropathy + Ataxia SPAR Spastic ataxia syndromes Tremor, Essential ... Von Hippel-Lindau Syndrome : VHL protein; 3p26 Dominant Spinocerebellar Ataxia (SCA): General Incidence: ~1 to 5 per 100,000

17. Ataxia: Recessive genetics ? Allelic with Fatal infantile leukodystrophy; Onset Childhood; Course ataxia with Laryngeal abductor paralysis Motor neuropathy10 http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html

Front Search Index Links ... Ataxia-Oculomotor Apraxia 1 (AOA1): Aprataxin; 9p13 Ataxia-Oculomotor Apraxia 2 (AOA2): Senataxin; 9q34 Ataxia telangectasia : ATM; 11q22 Ataxia telangectasia-like (ATLD): MRE11; 11q21 Ataxia with neuropathy Ataxia with upgaze palsy Baltic Myoclonus (Unverricht-Lundborg) : Cystatin B; 21q22 Cardiomyopathy + Ataxia Cayman ataxia : ATCAY; 19p13 Cerebelloparenchymal disorders (CPD): II III IV V ... Charlevoix-Saguenay - Spastic Ataxia : Sacsin; 13q12 Childhood onset Cockayne Syndrome Coenzyme Q10 deficiency Cytochrome c Oxidase I : Mitochondrial Early onset with retained reflexes (EOCA) Friedreich ataxia : Frataxin (FRDA); 9q13 Friedreich ataxia 2 (FRDA 2): 9p23 Hypogonadism Infantile Onset Spinocerebellar Ataxia : Twinkle; 10q24 Leukoencephalopathies with vanishing white matter Macular dystrophy MIRAS Portneuf spastic ataxia ... Salla syndrome (Sialic acid storage): SLC17A5; 6q14 Slow eye movements Vitamin E deficiency Xeroderma pigmentosum Metabolic ataxias ... Abetalipoproteinemia : MTP; 4q22 Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis Hartnup ... Hyperammonemic : Urea cycle Hypobetalipoproteinemia : APOB; 2p24, 3p22

18. Ataxia Image that s a link to genetics Education Center Support Page. ataxia. (hereditaryataxias, Friedreich ataxia, ataxia telangiectasia, essential tremor, http://www.kumc.edu/gec/support/ataxia.html

Ataxia (hereditary ataxias, Friedreich ataxia, ataxia telangiectasia, essential tremor, spastic paraplegia, spinocerebellar ataxia) National Ataxia Foundation Support Groups 2600 Fernbrook Lane, Suite 119 Minneapolis, MN 55447 Phone: 763.553.0020 Fax: 763.553.0167 E-mail: naf@ataxia.org Web site: http://www.ataxia.org/ Ataxia Telangiectasia Children's Project 668 South Military Trail Deerfield Beach, FL 33442-3023 Phone: 800.543.5728 or 954.481.6611 Fax: 954.725.1153 E-mail: info@atcp.org Web site: www.atcp.org Friedreich Ataxia Parents Group (FAPG) Web site: http://www.fortnet.org/fapg/ Also See: Information for Siblings and Family Members Neurological conditions Neuromuscular conditions WeMove (Worldwide Education and Awareness for Movement Disorders), Mount Sinai Medical Center, NY NY National organizations information on genetic conditions or birth defects Ataxias: Classification , Washington University of St Louis, MO Dominant ataxias , Washington University of St Louis, MO Recessive ataxias , Washington University of St Louis, MO Familial Spinal Cord Syndromes , Washington University of St Louis, MO Systemic Ataxias (such as thyroid, and others

19. Friedreichs Ataxia, Genetic Futures - Y Touring Theatre Co New genetics The Human Genome Project Testing and screening Gene therapy Freidreich s ataxia People and genetics Issues and concerns http://www.geneticfutures.com/thegift/info/sheet7.asp

Genetic Selection TOP STORY: Exclusive! Controversial scientist answers critics Background Information What are genes? Inherited Genetic disorders New genetics The Human Genome Project ... Web Resources DOCTOR FISHER: way known as autosomal recessive. An autosomal recessive disorder is going to be relatively rare as you need both parents to be carriers. a 25% chance of being unaffected, a 50% chance of being a carrier without showing symptoms, a 25% chance of having the disease. RYAN WHAT ARE THE SYMPTOMS? Annie practises her ball skills ANNIE: Coping with a progressive disorder often causes feelings of depression, anger, frustration and other emotional symptoms. Annie is nervous ANNIE: HOW IS IT DIAGNOSED? The Group has its own medical advisory committee to oversee the research it finances and vigorously attempts to stimulate appropriate medical research. The Stable Wiggins Yard Bridge Street Godalming GU7 1HW Tel: 01483 417111 Y Touring Theatre company an operation of central ymca, registered charity No. 213121

20. Kprones Ataxia Atlas of genetics and Cytogenetics in Oncology and Haematology. New data onclonal anomalies of chromosome 14 in ataxia telangiectasia tct(14;14) and http://www.infobiogen.fr/services/chromcancer/Kprones/ataxia.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Ataxia telangiectasia Identity Note see also, in Deep Insight section: Ataxia-Telangiectasia and variants Other names Louis-Bar syndrome Inheritance autosomal recessive; frequency is about 1 to 2.5/105 newborns; heterozygotes are estimated to be 1% of the general population; founder effect are found in some isolated population Clinics Note ataxia telangiectasia is a chromosome instability syndrome with cerebellar degeneration, immunodeficiency, and an increased risk of cancers; A-T cells are defective in recognizing double-strand DNA damage to signal for repair Phenotype and clinics onset of the disease is often noted during the second year of life: there is progressive cerebellar ataxia (initially truncal, with further peripheral extension); ataxia is a constant feature in this disease; oculomotor apraxia, dysarthria, and dystonia; leading to muscular atrophia telangiectasia: facial region exposed to sunlight, and eyes (conjunctiva) combined immunodeficiency (in 70 %): thymus hypoplasia, and IgG2 and 4, IgA, IgE deficiency

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