21. Pathology Molecular Genetics Spinocerebellar Ataxia Type 2 INDICATIONS FOR TESTING The clinical features of spinocerebellar ataxia type2 (SCA2) include progressive gait ataxia with leg cramps, slow saccadic eye http://www.allkids.org/Specialties/Pathology/Pages/Molecular_Genetics_Spinocereb

INDICATIONS FOR TESTING: The clinical features of spinocerebellar ataxia type 2 (SCA2) include progressive gait ataxia with leg cramps, slow saccadic eye movements and, in some patients, dystonia, chorea and dementia. Onset is usually in the fourth decade with longevity of typically 10 to 15 years, although earlier onset in juvenile patients is occasionally noted that has a more rapid course. This disorder is autosomal dominant and may be characterized by markedly increased severity in successive generations, a phenomenon known as genetic anticipation. SCA2 is caused by expansion of an unstable trinucleotide (CAG) repeat in the first exon of the SCA2 gene in the chromosomal region 12q24. TESTING OFFERED: The majority (~100%) of affected individuals have the CAG repeat expansion in the SCA2 gene that is readily detected. This repeat is polymorphic, with 14-31 repeats found in unaffected individuals, and from 36 to 64 repeats in affected individuals. Patients with alleles in the 32-35 are considered intermediate with an indeterminate course. TURN-AROUND TIME: Most testing is completed within a time of 21 days following specimen receipt.

22. SOUTHEASTERN Regional Genetics Group™ (SERGG) E), Kennedy s disease, Ychromosome analysis, SCA1, SCA2, SCA2, DRPLA, SCA6, SCA7,Friedreich s ataxia, Pseudoachondroplasia Research genetics of coronary http://www.sergginc.org/registry/vi.htm

SECTION VI MOLECULAR GENETICS LABORATORIES to be listed as providing various clinical DNA diagnostic services. Some laboratories are willing to accept specimens for research purposes. In these instances, there may be contact persons apart from the director of DNA diagnostic services. Where this is the case, the particular contact person is indicated. A key to test symbols follows the listing of the laboratories. ALABAMA University of Alabama at Birmingham UAB Station Birmingham, AL 35294 Maria Descartes, MD; Jian Han, MD, Ph.D. Telephone: (205) 934-4983; FAX: (205) 934-1078 CLIA Diagnosis: CF, Fragile X, MCAD, PW, AS, DiGeorge Research: MCD, Chromosome Microdissection FLORIDA University of Florida Health Sciences Center Department of Pediatrics Division of Genetics, Box 100296 Gainesville, FL 32610 Telephone: (904) 392-4104 Research: Peggy Wallace, Ph.D. - NF1, PS, NS, WS, HCD, SLOS Telephone (904) 392-4104; FAX (904) 392-3051 Dan Driscoll, Ph.D., MD - PWS, AS, r15, CHR 15 Telephone (904) 392-4104; FAX (904) 392-3051

23. Re: Has The Gene Responsible For Frederick's Ataxia Been Located? A et al (1996) The relationship between trinucleotide (GAA) repeat length and clinicalfeatures in Friedreich ataxia. American Journal of Human genetics 59 (3 http://www.madsci.org/posts/archives/aug97/867961666.Ge.r.html

MadSci Network : Genetics Re: Has the gene responsible for Frederick's Ataxia been located? Area: Genetics Posted By: Carolyn Pettibone, grad student, Genetics, Harvard Medical School Date: Thu Jul 3 10:25:56 1997 Area of science: Genetics ID: 866773189.Ge Message: First, a little bit of background information: Ataxia is the term for progressive disorders involving muscle coordination and muscle action. Friedreich ataxia is one particular ataxia, and it is inherited in an autosomal recessive manner (both parents of an affected child are "silent" carriers of the trait). Friedreich ataxia has an incidence of 1/100,000 births, and the age of onset is usually before 10 years of age. Loss of muscle coordination occurs gradually over about 20 years, and ends with complete loss of ambulation. There are also cardiac and endocrine symptoms associated with this particular ataxia. No cure is available, and so the only thing doctors can do is treat the symptoms. Further information on other ataxias can be found here: Ataxia Classifications Now, to the original questions: Has the gene responsible been found? and Can people be screened for the gene?

24. Emory Genetics Laboratory, Emory University 9. Normal individuals have 734 copies of the GAA repeat, while individuals withFriedreich ataxia usually have (Please call Emory genetics Laboratory prior to http://server2k.genetics.emory.edu/lab/user/index.pl?display=tests&test=40

25. Cerebellar Ataxia Banfi et al. 1994. Identification and characterisation of the gene causing type1 spinocerebellar ataxia. Nature genetics 7 513520. Cancel et al. 1997. http://leedsdna.info/tests/SCA.htm

last update: Autosomal Dominant Spinocerebellar Ataxias (SCAs) Name OMIM No. Test Strategy Level 1 - PCR analysis for the CAG expansion mutations associated with spinocerebellar ataxias type 1, 2, 3, 6 and 7. As there is overlap between the phenotypes of the spinocerebellar ataxias the CMGS best pratice guidelines recommend testing for all the CAG repeat expansion mutations in patients in whom testing is requested. Introduction The adult onset autosomal dominant spinocerebellar ataxias are a clinically and genetically heterogeneous group of diseases. There are three clinical subgroups ADCA type I, ADCA type II and ADCA III. ADCA type I is a progressive cerebellar ataxia with additional but variable associated features of supranuclear ophthalmoplegia, optic atrophy, mild dementia, peripheral neuropathy and pyramidal dysfuction. ACDA type I is genetically heterogeneous and is due to mutations in the SCA1, SCA2 or SCA3 genes. A further gene SCA4 shows linkage with ACDA type I in one family but so far a gene has not been isolated. Families with ACDA type II have a mutation in the SCA7 gene. There is marked variation in age of onset and the disease has been described in infancy. Affected individuals have progressive ataxia with pigmentary macular dystrophy (which distinguishes it from the other SCAs).

26. Wellcome Trust Centre For Human Genetics - Template Sequeiros J, Koenig M. Homozygosity mapping of Portuguese and Japanese forms of ataxiaoculomotorapraxia Clinical and molecular genetics of primary dystonias. 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)

27. Genetics Cancer - Ataxia Telangiectasia (AT) Types Gynecological Cancers / genetics Cancer - The genetics of Breast and Ova/ genetics Cancer - ataxia Telangiectasia (AT) ataxia Telangiectasia (AT). http://www.readinghospital.org/content/content.asp?pageid=P07124

28. Ataxia: Recessive Recessive Nosology Other names Childhood ataxia with difuse hypomyelination;Myelinosclerosis centralis diffusa. genetics ? Allelic 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 Baltic Myoclonus (Unverricht-Lundborg) : Cystatin B; 21q22 Cayman ataxia : ATCAY; 19p13 Cerebelloparenchymal disorders (CPD): II III IV V ... Charlevoix-Saguenay - Spastic Ataxia : Sacsin; 13q12 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 Leukoencephalopathy with vanishing white matter Macular dystrophy ... Salla syndrome (Sialic acid storage): SLC17A5; 6q14 Vitamin E deficiency Xeroderma pigmentosum Metabolic ataxias Abetalipoproteinemia : MTP; 4q22 Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis Hartnup ... Hyperammonemic : Urea cycle Hypobetalipoproteinemia : APOB; 2p24, 3p22 L-2 Hydroxyglutaric acidemia Maple Syrup Urine Disease : BCKDH; 19q13

29. Terrier / Dog Genetics - Basics Of Coat Color And Ataxia Terrier genetics. My hope is to have many genetic related articalsplaced here in the near future. Until then here are a couple that http://www.briddlecreekjackrussellterriers.com/genetics/genetics.asp

Terrier Genetics My hope is to have many genetic related articals placed here in the near future. Until then here are a couple that I hope you find useful and informative.

30. Peninsula Molecular Genetics Laboratory, Exeter, UK CLINICAL genetics. FRIEDREICH ataxia (ANALYSIS OF THE FRDA GENE). Friedreichataxia is the most common inherited ataxia with an incidence of 1 in 50,000. http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/friedreich.htm

CLINICAL GENETICS FRIEDREICH ATAXIA (ANALYSIS OF THE FRDA GENE) Friedreich ataxia is the most common inherited ataxia with an incidence of 1 in 50,000. It has a recessive mode of inheritance with a carrier frequency estimated at 1 in 120. More than 95% of affected patients are homozygous for a (GAA)n expansion within intron 1 of the FRDA gene which encodes the frataxin protein. There are rare compound heterozygotes with an expansion on one allele and a point mutation in the other. Analysis of the (GAA)n repeat within the FRDA gene by PCR/agarose gel electrophoresis and sizing of normal range alleles using an ABI PRISM 377 TM DNA sequencer. A triplet-primed PCR method is used to look for the presence of an expansion in order to avoid false negative results resulting from allelic dropout in patients heterozygous for an expansion mutation. Sample required: 2 x 7.5ml blood (2.5ml for children) in EDTA tubes Reporting time: 1- 8 weeks Cost: Analysis of the FRDA (GAA)n repeat

31. Peninsula Molecular Genetics Laboratory, Exeter, UK CLINICAL genetics. SPINOCEREBELLAR ataxia (ANALYSIS OF THE SCA1, 2,3, 6 and 7 GENES). The autosomal dominant cerebellar ataxias (ADCAs http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/sca.htm

CLINICAL GENETICS SPINOCEREBELLAR ATAXIA (ANALYSIS OF THE and GENES) The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders with an estimated prevalence of 1 in 100,000. A trinucleotide repeat expansion (CAG)n has been found within the coding region at 5 gene loci (SCA1, 2, 3, 6 and 7). Analysis of the (CAG)n repeat within the and genes using an ABI PRISM 377 TM DNA sequencer Sample required: 2 x 7.5ml blood in EDTA tubes Reporting time: 1- 8 weeks Cost: Analysis of one SCA (CAG)n repeat Analysis of the SCA1, 2, 3, 6 and 7 (CAG)n repeats

32. N.C.M.G. Ireland - Friedreich Ataxia Service Description. Please contact the Molecular genetics laboratory if it is appropriate to performother tests, for example into spinocerebellar ataxia ( SCA ) genes or http://www.genetics.ie/services/frda/

@import "/css2v2.css"; National Centre for Medical Genetics Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland Skip Navigation H ome C ... ublications Friedreich Ataxia Background Information Friedreich Ataxia ( FRDA ) is the most common hereditary ataxia with an estimated prevalence of 1 in 50,000. The carrier frequency for FRDA in the general population is estimated to be 1 in 120. FRDA is characterised by progressive ataxia, areflexia of the legs, pyramidal weakness and impaired sense of vibration. Cardiomyopathy and diabetes are also seen with variable penetrance. FRDA is an autosomal recessive disorder and the majority of patients (96%) have a homozygous expansion mutation of a (GAA)n repeat within intron 1 of the frataxin gene. The normal range is 9-33 repeats and the size range associated with disease is 66 to 1,700 repeats, but the majority of pathogenic alleles contain 600-1,200 repeats. A number of point mutations have been reported in patients who are heterozygous for the expansion. To date, no FRDA patients without an expansion have been reported.

33. Genes At Work - Topics In Genetics upon these recent molecular advances, adults with progressive AD ataxia can now take 19982002by The Center for Human and Molecular genetics (CHMG)/University http://www.umdnj.edu/genesatwork/topics/adult_medicine/08_adult.htm

Hereditary Spinocerebellar Ataxias: A Model for Triplet Repeat Neurogenetic Disease by Beth A. Pletcher, MD, May 1999 SCA1 is associated with a gene on the short arm of chromosome 6 and demonstrates a typical age of onset around age 30 years. In addition to ataxia, lower bulbar palsies, hyperreflexia and scanning speech may be seen. SCA1 is most often associated with hypermetria with exaggerated extra-ocular eye movements and represents about 9% of all cases of AD cerebellar ataxia. Based upon these recent molecular advances, adults with progressive AD ataxia can now take advantage of the wide array of genetic tests designed to clearly define the subtype and possibly provide prognostic information. Testing should be considered based upon clinical symptomatology as well as family history. This could potentially provide asymptomatic individuals with information regarding their own future health, but it is most important to consider the risks versus benefits before proceeding with presymptomatic testing for a disorder with relatively few proven therapies and no preventative health care strategies currently under consideration. Genes at Work Home UMDNJ Home Top of page

34. Genes At Work - Topics In Genetics for Referral to genetics by Presenting Symptom (unrelated to birth asphyxia/anoxia).Always. Hypotonia with or without weakness ataxia Mental retardation http://www.umdnj.edu/genesatwork/topics/pediatrics/05_pediatrics.htm

Genetic Disorders and Neurology by Samuel G. Carruth, MD, March 2000 There are some key neurological and physical features that pediatric providers as well as neurologists should be aware of that give clues to possible genetic disorders. When children present with a particular pattern of neurological symptoms, unrelated to birth asphyxia/anoxia, infection, trauma or environmental causes, and distinctive physical features, a referral to a geneticist may be indicated for possible diagnostic genetic testing. Correct diagnosis of a genetic disorder is important because it may have implications for treatment, anticipatory guidance and family planning. The most common of these neurological symptoms include: mental retardation, developmental delay with or without language delay, hypotonia and ataxia. Associated neurological symptoms include: weakness, seizures, feeding difficulties, sensorineural hearing loss, vision loss, coordination abnormalities, decreased reflexes, exercise intolerance, voice changes and abnormal respiratory patterns which may include, but are not limited to, apnea or an acute life threatening event. When a combination of such symptoms are seen along with specific findings on physical exam, a genetic diagnosis can be highly suspected.

35. Laboratorio Dr. Mauricio Grosman MOLECULAR genetics DEPARTMENT. Consultant Dr. Belén Elgoyhen CONICET researchscientist, Prof. UBA www.neuromuscular.com.ar. Spinocerebellar ataxia I (SCA I) http://www.lbm-mg.com/genetics.htm

Laboratory I Genetics and Metabolopathies I Clinical Trials I Lab to Lab Services Patient Information I News I Contact Us I Main Page MOLECULAR GENETICS DEPARTMENT Consultant Dr. Belén Elgoyhen CONICET research scientist DNA ASSAYS Advisor Dr. Alberto L. Dubrovsky Neurology Ass. Prof. UBA www.neuromuscular.com.ar Spinocerebellar Ataxia I (SCA I) Spinocerebellar Ataxia II (SCA II) Spinocerebellar Ataxia III (SCA III) (Machado-Joseph disease) Spinocerebellar Ataxia VI (SCA VI) Spinocerebellar Ataxia VII (SCA VII) Friedreich's Ataxia Spinal Muscular Atrophy (Types I, II and III) Dentatorubral-Pallidoluysian Atrophy (DRPLA) Myutonic Dystrophy (Steintert's diesease) Facioscapulohumeral Muscular Dystrophy Duchenne-Becker Muscular Dystrophy a) PCR (blood) b) Linkage: carrier detection Gaucher's disease Kennedy's disease (Spinobulbar Muscular Atrophy) Huntington disease Tay Sachs disease Prenatal chorionic villosity tests Phenylketonuria (4 mutations) Tomaculu Neuropathy (liability to pressure palsies) Neurofibromatosis Fragile X Syndrome OTHER SERVICES DNA bank Preparation of DNA Assays and tests are performed in our laboratories or through agreements with leading centers in the United States: Children's Hospital

36. Entrez PubMed distinguishes it from other movement disorders. MeSH Terms Aged; ataxia/genetics;Brain/pathology; Brain Mapping; Cerebellum/pathology*; http://www.facultyof1000.com/pubmed/12638084

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. 2003 Apr;72(4):869-78. Epub 2003 Mar 12. Related Articles, Links Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ.

37. Applied Genetics News: ATM Linked To Ataxia-Telangiectasia Print friendly Tell a friend Find subscription deals ATM Linked toAtaxiaTelangiectasia Applied genetics News, Dec, 2000. Michael http://articles.findarticles.com/p/articles/mi_m0DED/is_5_21/ai_68655484

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Reference Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles Applied Genetics News Dec, 2000 Content provided in partnership with Print friendly Tell a friend Find subscription deals ATM Linked to Ataxia-Telangiectasia Applied Genetics News Dec, 2000 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. The researchers discovered that ATM protein participates in insulin-signaling in cells. ATM was previously known to be involved in repairing DNA damaged by radiation. The new function of ATM may help researchers explain other problems that these patients have, including metabolic problems.

38. Kimball Genetics - FXTAS DNA Test Indications for Testing •, Tremor and/or ataxia in males aged 50 years. Pleasecall Kimball genetics for more information, FXTAS DNA Testing Services, http://www.kimballgenetics.com/tests-fxtas.html

FXTAS DNA Test (Fragile X-Associated Tremor/Ataxia Syndrome) Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a 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. Both males and females with a premutation are at risk for fragile X syndrome in future generations. 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.

39. UM Human Genetics - Burmeister Burmeister M Mutations in a novel CRALTRIO domain encoding gene cause human Caymanataxia and ataxia/dystonia in the jittery mouse. Nature genetics 35 264 http://www.med.umich.edu/hg/RESEARCH/FACULTY/Burmeister/Burmeister.htm

UM Home Page Human Genetics Home Page Psychiatry Web Page ... MHRI Webpage Margit Burmeister, Ph.D. Research Associate Professor, Mental Health Research Institute Associate Professor of Genetics in Psychiatry Associate Professor of Human Genetics Recent Publications Seong E, Saunders TL, Stewart C, Burmeister M: Knock-outs in C57BL/6 or 129 ES cells: That's the question. Trends in Genetics (in press). Sen S, Burmeister M, Ghosh, D: Meta-Analysis of the Association Between a Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Anxiety-Related Personality Traits. Amer. J. Med. Genet. Neuropsychiatric Genetics, (in press). Swartz BE, Li S, Bespalova IN, Burmeister M, Dulaney E, Robinson FR, Leigh RJ: Pathogenesis of clinical signs in recessive ataxia with saccadic intrusions. Ann. Neurology 54: 828-828, 2003. Bomar JM, Benke PJ, Slattery EL, Puttagunta R, Taylor LP, Seong E, Nystuen A, Chen W, Albin RL, Patel PD, Kittles RA, Sheffield VC, Burmeister M: Mutations in a novel CRAL-TRIO domain encoding gene cause human Cayman Ataxia and ataxia/dystonia in the jittery mouse. Nature Genetics 35: 264-269, 2003.

40. Entrez PubMed Calcium Channels/genetics*; Cerebellar ataxia/genetics*; Chromosomes,Human, Pair 19*; Exons; Female; Human; Introns; Male; Middle Aged; http://www.biomedcentral.com/pubmed/9302278

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 Hum Mol Genet. 1997 Oct;6(11):1973-8. Related Articles, Links Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M.

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