41. Anticipation In Spinocerebellar Ataxia Type 2 - Nature Genetics Anticipation in spinocerebellar ataxia type 2. StefanM. Pulst1, Alex Nechiporuk1 A genetic linkage map of the human genome. Cell 51, 319-337 (1987). http://www.nature.com/ng/journal/v5/n1/abs/ng0993-8c.html

@import "/ng/style.css"; nature.com homepage Login My account ... Browse by subject Search This journal All of nature.com Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Correspondence Nature Genetics doi:10.1038/ng0993-8c Anticipation in spinocerebellar ataxia type 2 Stefan-M. Pulst , Alex Nechiporuk Neurogenetics laboratory, Division of Neurology, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California, USA Department of Neurology and Emergency Medicine, UCLA School of Medicine, California, USA REFERENCES New Engl. J. Med. Orr, H.T. et al Nature Genet. Gispert, S. et al Nature Genet. Neurology Weissenbach, J. et al Nature NIH/CEPH Collaborative Mapping Group. Science Donis-Keller, H. et al . A genetic linkage map of the human genome. Cell Ashizava, T. et al Neurology Huntington's disease collaborative research group. Cell J.-L., Mandel., Nature Genet. Top Top References Previous Table of contents Download PDF Send to a friend ... More science jobs Search buyers guide: ADVERTISEMENT ISSN: 1061-4036 EISSN: 1546-1718 Journal home Advance online publication Current issue Archive ... For librarians

42. National Ataxia Foundation Today she will speak on “Update on the genetics of ataxia” . Dr. Susan Perlmanserves as Clinical Professor of Neurology and as the Director of the ataxia http://home.comcast.net/~fernandesml/2004acarm3flyer.htm

National Ataxia Foundation ALL CALIFORNIA ATAXIA RESEARCH MEETING (WEBSITE: http://www.ataxia.org/ THIRD A N N U A L M E E T I N G Date: Sunday, November 14, Location: Holiday Inn Sacramento Northeast – The Aviator Room 5321 Date Avenue , Sacramento, California 95841 TEL: Sched: Coffee – Steven Nowicki – “ Research Advances in FXTAS Vicki Wheelock "Update on the Genetics of Ataxia" Susan Perlman Review of Anti-oxidants . Genetic and Non-genetic Ataxias Lunch Allen Christian Henry Paulson – “siRNA and SCA3; the realities it may hold for many Ataxians” When all presentations are complete they will be followed by a written question and answer period. Written questions will be taken from the Ask-It-Basket at the Literature Table. Speakers: Dr. Steven Nowicki currently works at UC Davis Medical Center in the M.I.N.D. Institute, where he works in Developmental and Behavioral Pediatrics and is specializing work towards the elucidation of genetic susceptibility loci in autism. He received his Ph.D. from the University of Florida in 1998. He also received his M.D. from The University of Florida in 2000. Dr. Nowicki has been granted numerous awards. Among these awards are: “ Department of Chemistry Industrial Affiliates Research Award Recipient” from the University of Florida in 1996. He has worked extensively and published on FX Syndrome and is very familiar with ‘Fragile X-Associated Tremor Ataxia Syndrome’ (FXTAS) discovered at the M.I.N.D. Institute. He is presenting today on the

43. Laura Ranum, Ph.D. - Institute Of Human Genetics At The University Of Minnesota Neuroscience Human genetics Muscular Dystrophy ataxia. Research Techniques Used (2003) Molecular genetics of spinocerebellar ataxia type 8. http://www.med.umn.edu/ihg/research/ranum/home.html

Return to: Medical School Academic Health Center myAHC U of M Home ... Research > Laura Ranum, Ph.D. Laura Ranum, Ph.D. Professor, Ph.D. University of Minnesota, 1989. Institute of Human Genetics Dept. of Genetics, Cell Biology and Development 6-160 Jackson Hall 321 Church St. S.E. Minneapolis, MN 55455 Office: 5-128 MCB Phone: (612) 624-0901 Lab: 5-162 MCB Phone: (612) 626-3521 Fax: (612) 625-8488 e-mail: ranum001@umn.edu Areas of Research Strength: Neuroscience Human genetics Muscular Dystrophy Ataxia Research Techniques Used: Human genetics, genetic mapping, positional cloning, transgenic models Research Interests: Many neurodegenerative diseases begin later in life after the nervous system is fully developed. The biochemical bases for the initiation of the degenerative processes are not understood. A major step towards a better understanding of neurodegenerative diseases was made with the discovery that microsatellite repeat expansions are responsible for a number of these diseases. Our group is interested in understanding how repeat expansions cause myotonic dystrophy and ataxia. The inheritance pattern of SCA8, though generally dominant, is complicated, showing reduced penetrance and a strong maternal penetrance bias. Surprisingly, molecular analyses of this expansion revealed that, unlike the other SCA CAG mutations characterized to date, the SCA8 expansion is not translated as a polyglutamine tract. Rather, the expanded repeat is an untranslated CTG expansion near the 3' end of a naturally occurring antisense transcript. Myotonic dystrophy is the only other disease known to be caused by an untranslated CTG expansion.

44. Wellcome Trust Centre For Human Genetics - Template forms of ataxiaoculomotor apraxia to 9p13, and evidence for genetic heterogeneity . Autosomal recessive cerebellar ataxia with oculomotor apraxia http://www.well.ox.ac.uk/monaco/andrea.shtml

Back to Monaco Group home about research ... vacancies The genetics of movement disorders and ataxias Dr. Andrea H. Németh (andrea.nemeth@well.ox.ac.uk) The two main interests of the group are inherited dystonias and ataxias, but we also have an interest in other inherited neurogenetic conditions such as chorea-acanthocytosis (Rubio et al., 1997, Rampoldi et al., 2001 and see ...), Tourette syndrome and adrenoleukodystrophy. Dr. Németh sees out-patients with inherited neurogenetic conditions in a specialist clinic held once a month. 1) Ataxias a) Autosomal recessive cerebellar ataxias This is a genetically heterogeneous group of disorders which includes Friedreich ataxia, ataxia telangiectasia and vitamin E deficiency. Another condition in this group, which has only recently been investigated in more detail, is autosomal recessive cerebellar ataxia associated with a complex eye movement disorder, sometimes known as ataxia with oculomotor apraxia (AOA) or ataxia-telangiectasia like-disorder (ATLD). We have identified a large family with this condition and mapped the disease locus to chromosome 9q34 (Németh et al., 2000). Further work is now in progress to collect additional families and check for linkage to 9q34, or to 9p where a second AOA locus has recently been identified (do Ceu Moreira et al., 2001)

45. Wellcome Trust Centre For Human Genetics - Template A novel HSV1 amplicon gene therapy for treating Friedreich s ataxia. Friedreich’sataxia (FA) is the most common recessive ataxia, affecting 1-2 in 50000 http://www.well.ox.ac.uk/~wmartins/web/W-M_FRDA.shtml

Overview Neurodegeneration Genetics Gene Therapy Publications ... vacancies A novel HSV-1 amplicon gene therapy for treating Friedreich's Ataxia Friedreich’s Ataxia (FA) is the most common recessive ataxia, affecting 1-2 in 50,000 Caucasians across the world. FA is caused by a deficiency in frataxin, a mitochondrial protein involved in iron trafficking-related processes. In over 95% of cases frataxin deficiency is mainly due to an abnormal expansion of a triplet GAA within intron 1 of the FRDA gene locus at 9q13 (Campuzano et al , 1996) (Figure 1). The expansion has been hypothesized to lead to the generation of a complex structure known as “sticky DNA” which hampers RNA transcription leading to protein deficiency. The main areas affected are the central nervous system (particularly the spinocerebellar system) and cardiac tissue. Patients suffering from Friedreich’s Ataxia feature progressive gait and limb ataxia (= “lack of co-ordination”), signs of upper motor neuron dysfunction (lack of reflexes and lose of position and vibration) and cardiac hypertrophy, which subsequently leads to death. Figure 1: A schematic showing the structure of the human FRDA locus on chromosome 9. The locus consists of 7 exons which span approximately 80 kb. The major transcript is composed of exons 1-5a. One of the minor transcripts includes exon 5b and the non-coding exon 6. The other minor transcript contains a small portion of intron 4 (8 bp) because of an alternative donor splice site. A GAA expansion in intron 1 is the most common mutation in Friedreich’s ataxia patients.

46. IDR Factfile For Ataxia-telangiectasia-like Disorder ataxiaTelangiectasia, ataxia-Telangiectasia, genetics University Hospital. -,ataxia-Telangiectasia, National Swedish Board of Health and Welfare http://dna.uta.fi/xml/idr/FF120.xml

General information Disease Ataxia-telangiectasia-like disorder Alternative names: ATLD; A-TLD; A-T like disease Description Defects in MRE11A are a cause of ataxia-telangiectasia-like disorder (ATLD). ATLD is a disease with the same clinical feature as ataxia-telangiectasia but with a milder clinical course. Classification DNA Breakage Associated Syndromes and DNA Epigenetic Modification Syndromes DNA-breakage-associated syndromes Inheritance Autosomal recessive OMIM Ataxia-Telangiectasia-like disorder; ATLD Cross references Phenotype related immunodeficiencies IDR factfile for Ataxia-telengiectasia Incidence Incidence is not known. Clinical information Description Patients have progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation. AT-like disease has a milder course. Diagnosis Diagnostic recommendations: ESID/PAGID recommendations by IDR Additional Information: Ataxia-Telangiectasia, ORPHANET

47. IDR Factfile For Ataxia-telengiectasia ataxiaTelangiectasia, ataxia-Telangiectasia, genetics University Hospital. -,ataxia-Telangiectasia, National Swedish Board of Health and Welfare, Sweden http://dna.uta.fi/xml/idr/FF87.xml

General information Disease Ataxia-telengiectasia Alternative names: AT; AT1; Louis-Bar syndrome; Ataxia-telangiectasia (A-T) mutated Description Defects in ATM are the cause of ataxia talangiectasia, which includes four complementation groups: A, C, D and E. A-T is, complex, multysystem disorder. Classification DNA Breakage Associated Syndromes and DNA Epigenetic Modification Syndromes DNA-breakage-associated syndromes Inheritance Autosomal recessive OMIM Ataxia-telangiectasia; AT Ataxia-telangiectasia; AT Cross references Phenotype related immunodeficiencies IDR factfile for Nijmegen-breakage syndrome IDR factfile for Bloom syndrome Incidence 1: 100000 births. Clinical information Description The disease is characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation. Diagnosis Diagnostic recommendations: ESID/PAGID recommendations by IDR Additional Information: Ataxia-Telangiectasia, ORPHANET

48. FRIEDREICHS ATAXIA As with all inherited diseases, Friedreich s ataxia is caused by a genetic defect . genetics of FA Additional FA Information Recessive ataxia http://www.mda.org.au/specific/mdafa.html

FACT SHEET FRIEDREICH'S ATAXIA What is Friedreich's Ataxia? Friedreich's Ataxia is a slowly progressive disorder of the nervous system and muscles. The disorder, named for the physician who first identified it in the early 1860's results in inability to coordinate voluntary muscle movements (ataxia). This condition is caused by degeneration of nerve tissue in the spinal cord and of nerves that extend to peripheral areas such as the arms and legs. That ataxia affects upper and lower limbs, and the head and neck. There is also a particular loss of the sensations of touch and pressure in the arms and legs. Unlike some neurological diseases, Friedreich's Ataxia does not affect mental capacity. What other conditions are associated with Friedreich's Ataxia There are conditions associated with Friedreich's Ataxia that do not result from the degeneration of nerves. Heart disease, sometimes in forms severe enough to be fatal, is one of the more common and threatening of these conditions. Abnormalities in heartbeat rhythm and diminished strength of the heart muscle have been noted in a large percentage of Friedreich's Ataxia patients, with palpitations and dyspnea (shortness of breath) the most common found symptoms.

49. Applied Genetics News: ATM Linked To Ataxia-Telangiectasia Full text of the article, ATM Linked to ataxiaTelangiectasia from AppliedGenetics News, a publication in the field of Health Fitness, is provided free http://www.findarticles.com/p/articles/mi_m0DED/is_5_21/ai_68655484

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Home Advanced Search IN free articles only all articles this publication Automotive Sports FindArticles Applied Genetics News Dec 2000 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports ATM Linked to Ataxia-Telangiectasia Applied Genetics News Dec, 2000 Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Michael B. Kastan, chairman of the department of hematology oncology at St. Jude Research Hospital (332 N. Lauderdale, Memphis TN 38105-2729; Tel: 901/495-3300) and Da-Qing Yang, a postdoctoral fellow, discovered a potentially important new role of the ATM protein that may shed light on some of the myriad physiologic problems found in patients with the genetic disease Ataxia- Telangiectasia (A-T). These findings are published in the December issue of the journal Nature Cell Biology. A-T is a rare and tragic, inherited disorder characterized by a high incidence of cancer and hypersensitivity to radiation and some chemotherapy treatments. In addition, this disorder affects many different organ systems within the body, including a progressive neurologic degeneration that makes the patients wheelchair-bound as children. ATM is the gene mutated in the disorder A-T.

50. Applied Genetics News: Gene Defects Precede Degeneration - Scientists Research S Full text of the article, Gene Defects Precede Degeneration scientists researchspinocerebellar ataxia type 1 - Brief Article from Applied genetics News http://www.findarticles.com/p/articles/mi_m0DED/is_7_20/ai_59670415

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Home Advanced Search IN free articles only all articles this publication Automotive Sports FindArticles Applied Genetics News Feb 2000 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Related Searches Spinal diseases / Research DNA / Research Central nervous system diseases / Diseases Baylor University. College of Medicine / Research Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Gene Defects Precede Degeneration - scientists research spinocerebellar ataxia type 1 - Brief Article Applied Genetics News Feb, 2000 Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Researchers studying mice that develop a neurodegenerative disorder similar to spinocerebellar ataxia type 1 (SCA1) have pinpointed abnormalities in gene expression that occur long before signs of the disease appear. Howard Hughes investigator Huda Zoghbi at the Baylor College of Medicine and colleagues reported their findings in the February 2000 issue of Nature Neuroscience. In 1993, Zoghbi and her collaborator Harry Orr of the University of Minnesota found that SCA1 is caused by a "genetic stutter" of the three-nucleotide DNA sequence CAG. Genes that contain this stutter have an unusually high number of CAG repeats, which in turn causes them to produce proteins with an abnormally long glutamine tract. A normal SCA1 gene has about 30 CAG repeats, which are interrupted by another triplet repeat sequence. People who have SCA1, however, carry a gene with 40 to a 100 uninterrupted CAG repeats.

51. Kimball Genetics - Kimball Genetics Press Releases XAssociated Tremor/ataxia Syndrome) Now Available At Kimball genetics FXTAS is characterized by progressive tremor, gait ataxia, and cognitive http://www.kimballgenetics.com/press/032204.html

For: Kimball Genetics, Inc., 101 University Blvd., Suite 350, Denver, CO 80206 Contact: Juli Murphy, M.S., (800) 320-1807 FOR IMMEDIATE RELEASE FXTAS DNA Test (Fragile X-Associated Tremor/Ataxia Syndrome) Now Available At Kimball Genetics Denver, CO, March 22, 2004 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. FXTAS is distinct from fragile X syndrome, the most common cause of inherited mental retardation. However, both conditions arise as a consequence of a CGG trinucleotide repeat expansion in the FMR1 gene. The number of CGG repeats varies from 6 to approximately 40 in normal alleles. Premutations have between approximately 55 and 200 CGG repeats. Full mutations have more than 200 repeats and are usually associated with abnormal FMR1 methylation, resulting in fragile X syndrome. Males with a premutation do not typically display characteristics of fragile X syndrome and usually have a normal IQ. Those who eventually develop FXTAS are generally over 50 years of age. They often present with tremor and may have difficulty with handwriting or using eating utensils. They may exhibit unsteadiness with walking and experience frequent falling. As these symptoms gradually progress, cognitive deficits may appear including decreased memory retrieval, distractibility, and dementia.

52. Molecular & Behavioral Neuroscience Institute Faculty: Margit Burmeister Atcay is the gene identified as the jittery and Cayman ataxia gene in ourstudies (see paper by Bomar et al., Nature genetics 2003). Figure 3. http://www.mbni.med.umich.edu/mbni/faculty/burmeister/burmeister.html

By Alpha By Interest Margit Burmeister, Ph.D. Associate Research Professor, MBNI Associate Professor, Department of Psychiatry Associate Professor, Department of Human Genetics 1026 MBNI Building 205 Zina Pitcher PlaceAnn Arbor , MI Margit@umich.edu Current Research Interests: Identification of Genes Involved in Behavior, Neurological, and Psychiatric Disorders We are interested in finding genes involved in neurological and psychiatric diseases as well as behavior in general. In contrast to Mendelian single gene defects, human behavior and risk for psychiatric illness such as depression and alcoholism are determined by a complex interaction of environmental and multiple genetic risk factors. With the Human Genome sequenced, unprecedented numbers of genetic variants identified, and novel technologies that allow the study of genetic variants, untangling these risk factors is now possible and has started in my laboratory. In a large collaboration, we combine genetic with microarray expressionanalysis of postmortem brains of subjects that died with depression and control subjects. We determine genetic variants that influence gene expression in brains. While primarily interested in human disorders, we are using mice as a model system when appropriate. We use genetic methodologies and have identified specific single gene mutations that cause ataxia, seizures, and behavioral abnormalities in mice and humans. For some of these, the function of the encoded protein is unknown, and we are starting to clarify this function. We collaborate with clinicians, psychologists, epidemiologists, statisticians and bioinformaticians as well as other geneticists in these endeavors.

53. Friedreich Ataxia - Friedreich Disease - Information Page With HONselect view the robot description of the site Friedreich ataxia genetics Home Reference ghr.nlm.nih.gov 3 view the HON description of the site http://www.hon.ch/HONselect/RareDiseases/EN/C10.228.140.252.700.150.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Friedreich Ataxia": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Friedreich Ataxia Definition: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA , pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75) Synonym(s): Friedreich Disease / Hereditary Spinal Sclerosis / Sclerosis, Hereditary Spinal / Freidreich's Ataxia /

54. Friedreich Ataxia: The Oxidative Stress Paradox -- Seznec Et Al. 14 (4): 463 -- Human Molecular genetics Advance Access originally published online on December 22, Friedreich ataxia (FRDA) results from a generalized deficiency of http://hmg.oxfordjournals.org/cgi/content/abstract/14/4/463

@import "/resource/css/hw.css"; @import "/resource/css/hmg.css"; Skip Navigation Oxford Journals Contact Us My Basket ... Volume 14, Number 4 Pp. 463-474 Human Molecular Genetics Advance Access originally published online on December 22, 2004 Human Molecular Genetics 2005 14(4):463-474; doi:10.1093/hmg/ddi042 This Article Full Text Full Text (PDF) Supplementary Material All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Request Permissions PubMed PubMed Citation Articles by Seznec, H. Articles by Puccio, H. Friedreich ataxia: the oxidative stress paradox Delphine Simon Laurence Reutenauer Ariane Hertzog Pawel Golik Vincent Procaccio Manisha Patel Jean-Claude Drapier Michel Koenig and Institut de Chimie des Substances Naturelles (ICSN), CNRS, Avenue de la Terrasse, 91190 Gif-sur-Yvette, France, Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG), University of California at Irvine, Irvine, CA 92697, USA and

55. Disabled Early Recruitment Of Antioxidant Defenses In Friedreich's Ataxia -- Cha Human Molecular genetics, 2001, Vol. 10, No. 19 20612067 Friedreich s ataxia,No Changes in Mitochondrial Labile Iron in Human Lymphoblasts and http://hmg.oxfordjournals.org/cgi/content/abstract/10/19/2061

@import "/resource/css/hw.css"; @import "/resource/css/hmg.css"; Skip Navigation Oxford Journals Contact Us My Basket ... Volume 10, Number 19 Pp. 2061-2067 This Article Full Text FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (35) Request Permissions PubMed PubMed Citation Articles by Chantrel-Groussard, K. Articles by Rustin, P. Human Molecular Genetics, 2001, Vol. 10, No. 19 Oxford University Press Karine Chantrel-Groussard Vanna Geromel Michel Koenig Arnold Munnich and Pierre Rustin ascribed to mitochondrial iron overload. However, iron overload appears to be a late event in the disease. Here we show that neither superoxide dismutases nor the import iron machinery fibroblasts in contrast to control cells. Superoxide dismutase activity was not induced in the heart of conditional frataxin-KO mice either. This suggests that continuous oxidative damage

56. Genetics And Molecular Biology - Spinocerebellar ataxia type 1 (SCA1) and MachadoJoseph disease (MJD/SCA3) are Watkins WS, Bamshad M and Jorde LB (1995) Population genetics of http://www.scielo.br/scielo.php?pid=S1415-47572003000200002&script=sci_arttext&t

57. Research - The Institute Of Human Genetics - University Of Newcastle The Institute of Human genetics at the University of Newcastle upon Tyne. A splicing mutation affecting expression of ataxiatelangiectasia and http://www.ncl.ac.uk/ihg/research/publication/6192

Newcastle University The Institute of Human Genetics Research Developmental Genetics and Stem Cell Biology ... search A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein ( ATR ) results in Seckel syndrome. O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. Nature Genetics Volume: 33 Pagination: 497-501 Staff Profiles Prof. Judith Goodship Telephone: 0191 241 8747 Email: j.a.goodship@ncl.ac.uk Top of Page webmaster Institute of Human Genetics ... University of Newcastle upon Tyne

58. Research - The Institute Of Human Genetics - University Of Newcastle The Institute of Human genetics at the University of Newcastle upon Tyne. Molecular epidemiology of spinocerebellar ataxia type 6 2004 http://www.ncl.ac.uk/ihg/research/publication/16747

Newcastle University The Institute of Human Genetics Research Developmental Genetics and Stem Cell Biology ... search Molecular epidemiology of spinocerebellar ataxia type 6 K. Craig;S.M. Keers;K. Archibald;A. Curtis;P.F. Chinnery Annals of Neurology Volume: In press Short Title: Molecular epidemiology of spinocerebellar ataxia type 6 Staff Profiles Prof. Patrick Chinnery Telephone: +44(0)191 222 5101 Email: P.F.Chinnery@ncl.ac.uk Top of Page webmaster Institute of Human Genetics ... University of Newcastle upon Tyne

59. Entrez PubMed Adolescent; ataxia/genetics*; Chromosomes, Human, Pair 6/genetics*; CognitionDisorders/genetics*; DNABinding Proteins/biosynthesis http://genomebiology.com/pubmed/10484774

My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez 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 Mobile NLM Catalog NLM Gateway ... PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 1 Review: Hum Mol Genet.

60. Entrez PubMed The neurodegeneration observed in Friedreich s ataxia can be well explained on Friedreich ataxia/etiology; Friedreich ataxia/genetics*; Gene Deletion http://genomebiology.com/pubmed/9271239

My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez 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 Mobile NLM Catalog NLM Gateway ... PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 1 Review: FEBS Lett.

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