41. Health Library - machadojoseph disease. Important It is possible that the main title of the report machado-joseph disease is not the name you expected. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

42. Emory Genetics Laboratory, Emory University Department of Human Genetics. machadojoseph disease. machado-joseph disease. Indications machado-joseph disease (MJD) is a form of http://server2k.genetics.emory.edu/lab/user/index.pl?display=tests&test=47

43. OMIM - MACHADO-JOSEPH DISEASE; MJD http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109150

44. Entrez PubMed CAG repeat expansion of machadojoseph disease in the Japanese analysis of the repeat instability for parental transmission, and correlation with disease http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

45. Blackwell Synergy - Cookie Absent Use of fluoxetine for treatment of machadojoseph disease an open-label study. The gene for machado-joseph disease maps to human chromosome 14q. http://www.blackwell-synergy.com/links/doi/10.1034/j.1600-0404.2003.02132.x/abs/

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

46. Blackwell Synergy - Cookie Absent Homozygous machadojoseph disease presenting as REM sleep behaviour disorder and prominent psychiatric symptoms. Keywords homozygosity. machado-joseph disease. http://www.blackwell-synergy.com/links/doi/10.1046/j.1468-1331.2002.00335.x/abs/

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

47. Entrez PubMed A large Japanese family with machadojoseph disease clinical and genetic analysis. Yoritaka A, Nakagawa-Hattori Y, Hattori N, Kitahara http://www.biomedcentral.com/pubmed/10225355

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 Acta Neurol Scand. 1999 Apr;99(4):241-4. Related Articles, Links A large Japanese family with Machado-Joseph disease: clinical and genetic analysis. Yoritaka A, Nakagawa-Hattori Y, Hattori N, Kitahara A, Mizuno Y.

48. Entrez PubMed Click here to read REM sleep behavior disorder and SCA3 (machado-joseph disease). Syed BH, Rye DB, Singh G. Department of Neurology http://www.biomedcentral.com/pubmed/12525744

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 Neurology. 2003 Jan 14;60(1):148. Related Articles, Links REM sleep behavior disorder and SCA-3 (Machado-Joseph disease). Syed BH, Rye DB, Singh G. Department of Neurology, Emory University, Atlanta, GA 30322, USA.

49. Mental Retardation, Directory machadojoseph disease; MJD, OMIM machado-joseph disease, NORD International Joseph Disease Foundation (IJDF) Machado Joseph Disease, Jewish Genetic Diseases http://www.saunalahti.fi/kup/engl/webs_j.html

Finnish Information Center on Mental Retardation English links A B C D ... Z Jacobsen Syndrome JACOBSEN SYNDROME; JBS, OMIM chromosome 11q deletion syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Chromosome 11, Partial Monosomy 11q, Genetic Information and Patient Services, Inc. (GAPS) Analysis of Jacobsen syndrome, G2D ... THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT, OMIM Jackson-Weiss Syndrome JACKSON-WEISS SYNDROME; JWS, OMIM FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1, OMIM FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2, OMIM Jackson Weiss Syndrome, NORD ... Epidemiology of Craniosynostosis, Johns Hopkins University, Simeon Boyadjiev Boyd Jadassohn nevus phakomatosis NEVUS SEBACEUS OF JADASSOHN, OMIM epidermal nevus syndrome (ENS), Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Epidermal Nevus Syndrome, eMedicine Epidermal Nevus Support Group ... LINEAR NEVUS SEBACEOUS SYNDROME, Miami Children´s Hospital Jaeken syndrome carbohydrate deficient glycoprotein (CDG) syndrome (CDGS) 1, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia, OMIM Database Jaak Jaeken: Carbohydrate Deficient Glycoprotein Syndrome The CDG syndrome, Orphanet ... Familial olivopontocerebellar atrophy with macular degeneration: a separate entity among the olivopontocerebellar atrophies, Anttinen A et al, PubMed Jaffe-Campanacci syndrome Jaffe-Campanacci syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes

50. Disease Directory : Machado-Joseph Disease Fact Sheet Diseases Genetic Disorders MachadoJoseph machado-joseph disease Fact Sheet. Directory Listing. Title machado-joseph disease http://www.diseasedirectory.net/detailed/10360.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Machado-Joseph : Machado-Joseph Disease Fact Sheet Directory Listing Title: Machado-Joseph Disease Fact Sheet Description: Developed by the National Institute of Neurological Disorders and Stroke (NINDS). Date Added: 2/4/2004 1:24:50 PM URL: http://www.ninds.nih.gov/health_and_medical/pubs/machado-joseph.htm

51. Grewal Et Al. Machado-Joseph Disease RP, Cancel G, Leeflang EP, Duerr A, McPeek MS, Draghinas D, Yao X, Stevanin G, Alnot MO, Brice A, Arnheim N (1999) French machadojoseph disease patients do http://galton.uchicago.edu/~mcpeek/data/grewaletal.html

Likelihood analysis of segregation distortion in sperm-typing data for Grewal RP, Cancel G, Leeflang EP, Duerr A, McPeek MS, Draghinas D, Yao X, Stevanin G, Alnot M-O, Brice A, Arnheim N (1999) "French Machado-Joseph Disease patients do not exhibit gametic segregation distortion: A sperm typing analysis" Human Molecular Genetics 8:1779-1784. Data Data are presented from 5 donors who are MJD patients of French descent. For details, see the paper For donor 1, we have the following data on 156 single sperm typed at both the MJD1 locus and at the closely-linked marker D14S1050, where A represents the mutant MJD1 allele, a represents the wild-type MJD1 allele, B represents the D14S1050 allele linked to the mutant MJD1 allele, and b represents the D14S1050 allele linked the the wild-type MJD1 allele. Coamplification data (Donor 1) -b a- ab -B -B-b -Ba- -Bab A- Ab A-a- A-ab AB AB-b ABa- ABab Total For donors 1 through 5, we have the following data on sperm typed at D14S1050, where B represents the allele linked the mutant MJD1 allele while b represents the allele linked to the wild-type MJD1 allele. Donor 1 -b -B -B-b Total Donor 2 -b -B -B-b Total Donor 3 -b -B -B-b Total Donor 4 -b -B -B-b Total Donor 5 -b -B -B-b Total Model We performed a likelihood-based analysis of segregation distortion in the single sperm data using the SPERMSEG program of McPeek (1999) "SPERMSEG: analysis of segregation distortion in sigle-sperm data" American Journal of Human Genetics 65:1195-1197.

52. Human Protein: P54252 - Machado-Joseph Disease Protein 1 (Ataxin-3) (Spinocerebe Human protein P54252 machado-joseph disease protein 1 (Ataxin-3) (Spinocerebellar ataxia type 3 protein). EMBL. FORUM. Length 376 http://harvester.embl.de/harvester/P542/P54252.htm

Human protein: P54252 - Machado-Joseph disease protein 1 (Ataxin-3) (Spinocerebellar ataxia type 3 protein). EMBL FORUM Length: 376 aa , molecular weight: 43449 Da , CRC64 checksum: MESIFHEKQE GSLCAQHCLN NLLQGEYFSP VELSSIAHQL DEEERMRMAE GGVTSEDYRT 60 FLQQPSGNMD DSGFFSIQVI SNALKVWGLE LILFNSPEYQ RLRIDPINER SFICNYKEHW 120 FTVRKLGKQW FNLNSLLTGP ELISDTYLAL FLAQLQQEGY SIFVVKGDLP DCEADQLLQM 180 IRVQQMHRPK LIGEELAQLK EQRVHKTDLE RMLEANDGSG MLDEDEEDLQ RALALSRQEI 240 DMEDEEADLR RAIQLSMQGS SRNISQDMTQ TSGTNLTSEE LRKRREAYFE KQQQKQQQQQ 300 QQQQQQQQQQ QQQQQQQRDL SGQSSHPCER PATSSGALGS DLGKACSPFI MFATFTLYLT 360 YELHVIFALH YSSFPL 376 // UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 34, 1-OCT-1996 Sequence update Rel. 41, 28-FEB-2003 Annotation update Rel. 43, 29-MAR-2004 Description and origin of the Protein Description Machado-Joseph disease protein 1 (Ataxin-3) (Spinocerebellar ataxia type 3 protein).

53. Central Nervous System Diseases machadojoseph disease. About machado-joseph disease - OMIM, NCBI (US). Machado/Joseph s Disease Information. machado-joseph disease AJ Brites. http://www.mic.ki.se/Diseases/C10.228.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Central Nervous System Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Adrenoleukodystrophy Alzheimer Disease Arachnoiditis Brain Abscess ... Zellweger Syndrome Central Nervous System Diseases Nerve Cells [Lodish et al.] - Molecular Cell Biol., Chap 21, via NLM (US) Pathol. Images of the Central Nervous System - Univ of Utah (US) The Human Brain [JD MacArthur] The Global Brainstem '97 , the Cerebellum '97 , the Thalamus '97 , the Spinal Cord '97 - Univ. of Wisconsin (US) Mental Disorders Links Brain Diseases Brain Functions and Map - Centre for Neuro Skills The Whole Brain Atlas - Atlas Project/Harvard Medical School et al. (US) Dissections of the Real Brain [Williams et al] - Univ of Iowa (US) Anatomy of the Brain - AANS Leukodystrophy (not on MeSH) Leukodystrophy - NINDS The United Leukodystophy Foundation , including

54. :: Ez2Find :: Machado-Joseph Info Translate - Open New Window Offers education, medical referrals, up-dates, and support to all individuals interested in machado-joseph disease. http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Machado-Joseph Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Machado-Joseph ez2Find Home Directory Health Conditions and Diseases ... Genetic Disorders : Machado-Joseph Related Categories Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Health: Conditions and Diseases: Neurological Disorders: Spinal Cord: Spinocerebellar Degenerations Web Sites International Joseph Disease Foundation [Site Info] [Translate] [Open New Window] Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease. URL: http://www.ijdf.net

55. NINDS Machado-Joseph Disease Information Page More about NINDS machadojoseph disease Information Page. Contact us Content for this page. NINDS machado-joseph disease Information Page. Reviewed 11-30-2001 http://accessible.ninds.nih.gov/health_and_medical/disorders/machado-joseph.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Machado-Joseph Disease Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Machado-Joseph Disease Information Page Reviewed 11-30-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Machado-Joseph Disease? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Machado-Joseph Disease? Is there any treatment?

56. History Of MJD & IJDF International Joseph Disease Foundation Joseph disease are considered to be one and the same, about the year 1981, medical researchers began referring to the disorder as machadojoseph disease or MJD http://69.10.163.110/bastiana/history.html

What's MJD? MJD Research Make a Donation to IJDF Founding of IJDF ... E-Mail Us Prepared by Rose Marie Silva for IJDF. March 18, 1994. With the advent of a new disease entity, Joseph family members, friends and professionals joined together in 1977 to form the International Joseph Diseases Foundation, a non-profit corporation. Members of the new Board of Directors and physicians were aware of Machado disease and other existing disorders affecting persons of Portuguese ancestry. It was decided to make the word disease plural in the new foundations name to encompass these other neurological diseases. In 1979, scientists working with the Joseph family established, through clinical and pathological studies, that Joseph disease could be expressed in three different ways, with varying symptoms and ages of onset of the disease. Medical researchers have documented the three types of the disease in scientific articles. Due to this variation, Joseph Disease has been referred to as a mysterious disease. During the year, 1980, research teams concluded that both Machado and Joseph disease could be clinically expressed as Type 31. Because Machado and Joseph disease are considered to be one and the same, about the year 1981, medical researchers began referring to the disorder as Machado-Joseph disease or MJD: Machado for the first family described and Joseph for the largest family affected. With the publication of medical articles written by teams of scientist researching both Machado and Joseph disease in the United States, Canada and Portugal, other physicians from within the United States and from other countries realized that some of their patients were also expressing symptoms of the disease. In 1980, it was medically established that the disease can affect persons of other ethnic backgrounds, not just those of Portuguese descent. Due to increased knowledge and worldwide education, Machado-Joseph disease has been documented on five continents. Countries where patients have been reported in medical articles include Japan, China, India, Brazil, the Azores Islands, Spain, Canada, Australia, Taiwan, Italy, and the United States (and possibly other countries from which we have not heard.)

57. Ingenta: Article Summary -- Muscle Cramp In Machado-Joseph Disease Altered Motor Article Muscle cramp in Machado–Joseph disease Altered motor axonal excitability properties and mexiletine treatment Brain April 2003, vol. 126, no. 4, pp. http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://oup/

58. Disabilityexchange.org - Taxonomy machadojoseph disease. What is machado-joseph disease? machado-joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. http://www.disabilityexchange.org/taxonomy/index.php?fid=3&path=3_299

59. - Disease Related Gene Human machadojoseph disease gene (MJD1) cDNA, Human MJD1 cDNA, 1783. Human machado-joseph disease gene (MJD1) cDNA, Human MJD1 cDNA, 1784. http://www.brc.riken.jp/lab/dna/en/GENESETBANK/category/disease.html

Type of Insert Running title RDBNo. Human Amyloid (A4) cDNA Human amyloid precursor 1 cDNA Human Amyloid beta (A4) cDNA Human amyloid precursor 2 cDNA Human Amyloid precursor cDNA Human amyloid precursor 3 cDNA Human deleted in colorectal cancer (DCC) cDNA Shuttle vector to produce recombinant adenovirus expressing human dcc Human deleted in colorectal cancer (DCC) cDNA Shuttle vector to produce recombinant adenovirus expressing human dcc Human deleted in colorectal cancer (DCC) cDNA Shuttle vector to produce recombinant adenovirus expressing human dcc Human deleted in colorectal cancer (DCC) cDNA Shuttle vector to produce recombinant adenovirus expressing human deleted in colorectal cancer gene (DCC) Human deleted in colorectal cancer (DCC) cDNA Shuttle vector to produce recombinant adenovirus expressing human deleted in colorectal cancer gene (DCC) Human deleted in colorectal cancer (DCC) cDNA Shuttle vector to produce recombinant adenovirus expressing human deleted in colorectal cancer gene (DCC) Human deleted in colorectal cancer (DCC) cDNA Shuttle vector to generate recombinant adenovirus harboring human deleted in colorectal cancer gene (DCC) Human Machado-Joseph disease gene (MJD1) cDNA Human MJD1 cDNA Human Machado-Joseph disease gene (MJD1) cDNA Human MJD1 cDNA Human Machado-Joseph disease gene (MJD1) cDNA Shuttle vector to produce recombinant adenovirus expressing human MJD1-1 Human Machado-Joseph disease gene (MJD1) cDNA Shuttle vector to produce recombinant adenovirus expressing human MJD1-1

60. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Machado-Joseph Disease Foundation rate it review it Offers education, medical referrals, updates, and support to all individuals interested in machado-joseph disease. http://www.pillsupplier.com/dir/870/

Category: Machado-Joseph HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Genetic Disorders/Machado-Joseph Links: International Joseph Disease Foundation [rate it] [review it] Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease. Machado Joseph Disease [rate it] [review it] Origins of the disease and the Jewish connection. Symptoms, diagnosis, ongoing rsearch information, and resources. Machado-Joseph Disease Fact Sheet [rate it] [review it] Developed by the National Institute of Neurological Disorders and Stroke (NINDS). Machado-Joseph Information [rate it] [review it] A definition of joseph disease with a look at the symptoms, diagnosis, how it is inherited and research. MJD Fact Sheet [rate it] [review it] In depth look at machado-joseph disease with some resources for further reading. MJD: Getting Help [rate it] [review it] Information about machado-joseph disease, genetic counselling, access to medical care and improving life quality. Pediatric Database [rate it] [review it] In depth look at this machado-joseph disease, starting with a definition, epidemiology, pathogenesis, clinical features, investigation and management.

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