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Machado-joseph Disease:     more detail

The Official Patient's Sourcebook on Machado-Joseph Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09 Machado-Joseph disease Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).: An article from: Human Biology by Manuela Lima, Francine M. Mayer, et all 1998-12-01 Machado-Joseph disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Sandra Galeotti, 2005 Prevalence, geographic distribution, and genealogical investigations of Machado-Joseph disease in the Azores (Portugal).: An article from: Human Biology by Manuela Lima, Francine Mayer, et all 1997-06-01 Machado-Joseph disease (SuDoc HE 20.3520:M 18) by U.S. Dept of Health and Human Services, 2001

lists with details

81. Biocompare News - UI Researchers Selectively Silence Disease-Causing Gene
    new technology known as RNA interference to silence a mutant gene that causes the neurodegenerative condition called machadojoseph disease (or Spinocerebellar  
    http://news.biocompare.com/newsstory.asp?id=10775

82. Host
    machadojoseph disease clinical, molecular, and metabolic characterization in Chinese kindreds. Ann Neurol 1997;41446-52. 11.  
    http://www.ym.edu.tw/neu/files/Soong/host.htm
    
    Extractions: Diplomate,American Board of Pathology and American Board of medical Genetis(Molecular Genetis Pathology) Publications 1. Soong BW, Chia LG, Chu F. Motor neuron disease, a clinical analysis in the Chinese. Chinese Med J 1982;30:231-8. 2. Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL. Multiple sulfatase deficiency. Neurology (Cleveland) 1989;38:1273-5.

83. §ºªÃ¤åÂå®v
    10. Soong BW, Cheng CH, Liu RS, Shan DE. machadojoseph disease clinical, molecular, and metabolic characterization in Chinese kindreds. Ann Neurol.  
    http://www.ym.edu.tw/icm/PhD/Soong BW.htm
    
    Extractions: Soong BW , Chia LG, Chu F. Motor neuron disease, a clinical analysis in the Chinese. Chin Med J. 1982;30:231-8. Soong BW , Casamassima AC, Constantopoulos G, Horwitz AL. Multiple sulfatase deficiency. Neurology (Cleveland) 1989; 38:1273-5. Fink JK, Filling-Katz MR, Sokol J, Cogan DG, Pikus A, Sonies B, Soong BW , Comly ME, Pentchev P, Brady RO, Barton NW. Clinical spectrum of Niemann-Pick disease type C. Neurology. 1989;39:1040-9. Watanabe S, Watanabe T, Li WB, Soong BW , Chou JY. Expression of the germ cell alkaline phosphatase gene in human choriocarcinoma cells. J Bio Chem. 1989;264:12611-9. Soong BW , Tsai TF, Su TH, Kao KP, Hsiao KJ, Su TS. DNA polymorphism and deletion analysis of Duchenne-Becker muscular dystrophy gene in the Chinese. Am J Med Genet. 1991;38:593-600.

84. Hum. Mol. Genet. -- Abstracts: Maruyama Et Al. 4 (5): 807
    University Press. ARTICLES. Molecular features of the CAG repeats and clinical manifestation of machadojoseph disease. H Maruyama, S  
    http://hmg.oupjournals.org/cgi/content/abstract/4/5/807
    
    Extractions: Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan. MachadoJoseph disease (MJD) is an autosomal dominant spinocerebellar degeneration mapped to chromosome 14q32.1. The CAG expansions of the MJD1 gene was identified as the cause of the disease. We have analyzed 90 MJD individuals from 62 independent MJD families and found that the MJD1 repeat length is inversely correlated with the age of onset (r = - 0.87). The MJD chromosomes contained 61-84 repeat units, whereas normal chromosomes

85. Health Library -
    prevention. machadojoseph disease. Synonyms adulthood. Three forms of machado-joseph disease are recognized Types MJD-I, MJD-II, and MJD-III. The  
    http://www.wellspan.org/library/healthguide/IllnessConditions/topic.asp?hwid=nor

86. Goto Jun
    Year, 1999. Title, Study of three intragenic polymorphisms in the machadojoseph disease gene (MJD1) in releation to genetic instability of the (CAG)n tract.  
    http://www.adm.u-tokyo.ac.jp/IRS/IntroPage_E/intro71114876_e.html
    
    Extractions: Research Paper Title Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado-Jpseph disease gene product with an expanded polyglutamine stretch. Source Human Molecular Genetics 9:69-78 Year Title Cloning and expression study of the mouse tetrodotoxin-resistant voltage-gated sodium channel a subunit NaT/Scn11a. Source Biochemical and Biophysical Research Communications 267:271-277 Year Title Expande polyglutamine stretches interact with TAFii130 interfering with CREB-dependent transcription. Source Nature Genetics 26:29-36 Year Title Identification of a novel human voltage-gated sodium channel a subunit gene SCN12A.

87. ¸åÆ£ ½ç
    ?, 1999. , Study of three intragenic polymorphisms in the machadojoseph disease gene (MJD1) in releation to genetic instability of the (CAG)n tract.  
    http://www.adm.u-tokyo.ac.jp/IRS/IntroPage_J/intro71114876_j.html
    
    Extractions: Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado-Jpseph disease gene product with an expanded polyglutamine stretch. Human Molecular Genetics 9:69-78 Cloning and expression study of the mouse tetrodotoxin-resistant voltage-gated sodium channel a subunit NaT/Scn11a. Biochemical and Biophysical Research Communications 267:271-277 Expande polyglutamine stretches interact with TAFii130 interfering with CREB-dependent transcription. Nature Genetics 26:29-36 Identification of a novel human voltage-gated sodium channel a subunit gene SCN12A. Biochemical and Biophysical Research Communications 267:262-270 Ataxia with isolated vitamin E: a Japanese family carrying a novel mutation in the a-tocopheral transfer protein gene. Annals of Neurology 45:809-812 Novel (CA)n marker DXYS241 on the nonrecombinant part of the human Y chromosome. Human Biology 71:261-275 Rapid aggregate formation of the huntingtin N-terminal fragment carrying an expanded polyglutamine tract. Biochemical and Biophysical Research Communications 256:361-366 Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in releation to genetic instability of the (CAG)n tract.

88. Spinocerebelläre Ataxie Typ 3 (SCA3, Machado-Joseph-Disease, MJD)
    Translate this page Spinocerebelläre Ataxie Typ 3 (SCA3, machado-joseph-disease, MJD). Klinik. Die Spinocerebelläre Ataxie Typ 3 präsentiert sich klinisch  
    http://www.pedgen.med.uni-muenchen.de/medgen/patinfo/diagnostik/sca3.html

89. Machado-joseph-disease Treatment
    machadojoseph-disease treatment. This article submitted by thorsten schulte on 2/4/97. Author s Email thorsten.schulte@rz.ruhr-uni-bochum.de Hallo,  
    http://neuro-www.mgh.harvard.edu/neurowebforum/MovementDisordersArticles/2.4.971

90. Machado Joseph Disease - Information And Support Resources
    Machado Joseph disease Overview, Screening, Testing, Information and Support Resources Origins of Machado Joseph disease and the Jewish Connection. Joseph disease, first documented in the 1970's, is What is Machado Joseph disease? Joseph disease is a fatal genetic  
    http://www.mazornet.com/genetics/machado.asp

91. Health In The XXI Century: A Vision Of The European Youth
    Machado Joseph disease. Machado Joseph disease (Text produced by the researcher). Researcher Professor Jorge Sequeiros. Paramyloidoisis Machado Joseph disease.  
    http://www.cienciaviva.pt/healthXXI/topics.asp?lang=en&accao=ibmc2_en

92. MACHADO JOSEPH DISEASE
    MACHADO JOSEPH disease. This article submitted by EDUARDO NEVES on 8/13/98. Email Address FAMILIANEVES@MAIL.TELEPAC.PT I HAVE MACHADO  
    http://neuro-www.mgh.harvard.edu/forum/CerebellarAtaxiaF/8.13.9811.46AMMACHADOJO

93. M J D & Sephardic Link
    MACHADO JOSEPH disease SEPHARDIC LINK by Sheri Bashor. Machado Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder.  
    http://www.saudades.org/mjdsephlink.htm
    
    Extractions: by Sheri Bashor Machado Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder. In layman terms a genetic neurological disease or stated simply an inherited disease of the central nervous system. It was first thought that this disease originated in the Azore Islands. If your parent has or

94. MACHADO JOSEPH DISEASE
    MACHADO JOSEPH diseaseMJD. SYMPTOMS OF MACHADO JOSEPH disease *weakness in the arms and legs *spasticity *staggering, lurching gait,easily mistaken for  
    http://members.tripod.com/~ebs_2/info/mjd.html
    
    Extractions: Symptoms most commonly begin between the ages of 15 and 40, but may appear earlier or much later in life. Progression may be fast or slow, and life expectancy ranges from 10-30 years after the disease begins. Neurologists have classified MJD into three types, depending on age at onset and characteristic symptoms. Machado Joseph Disease is an autosomal dominant disorder. This means that each child of an affected parent has a 50 percent chance of inheriting the defective gene. MJD does not skip generations, but people at risk who escape the disease will not pass it on to their children or future generations. As with any inherited disorder, MJD is not contagious and cannot be "caught" by people who are not at risk.

95. NewStandard: 7/14/98
    Confronting Machado Joseph disease. Machado Joseph disease, a hereditary and degenerative neurological disorder, strikes the Portuguese population.  
    http://www.southcoasttoday.com/daily/07-98/07-14-98/b01he042.htm

96. Disease Directory : Machado Joseph Disease
    diseases Genetic Disorders LeschNyhan Syndrome Machado Joseph disease. Directory Listing. Title Machado Joseph disease  
    http://www.diseasedirectory.net/detailed/10361.aspx

97. IJDF Founding International Joseph Disease Foundation
    remarkable woman! Rose Marie was instrumental in helping Medical researchers discover Machado Joseph disease (MJD) in the mid 1970 s.  
    http://69.10.163.110/bastiana/ijdf_founding.html
    
    Extractions: E-Mail Us By: Sheri Rogers Bashor 2001/2002 Thank You Rose Marie Silva. Rose Marie Silva is a very remarkable woman! Rose Marie was instrumental in helping Medical researchers discover Machado Joseph Disease (MJD) in the mid 1970's. At ten years of age young Rose Marie vowed she would one day find out what "strange secret illness" had killed her grandmother and numerous relatives in her family. Her father died from MJD when she was twelve years old. Her brother George would die from MJD years later. Rose Marie's childhood vow came true after thirty years of searching for an answer. Rose Marie believes "Divine Providence from God and His Guidance" kept her focused on her fight against this devastating disease. Rose Marie has traveled to Portugal, the Azores and across the United States educating professionals and lay persons on the effects of Machado Joseph Disease. In a volunteer position she has spent countless hours helping families world wide who have been affected by MJD. Rose Marie Silva along with a wonderful group of volunteers founded the International Joseph Disease Foundation in 1977. The IJDF a nonprofit organization has been dedicated in educating and supporting individuals world wide who have been effected by Machado Joseph Disease. In the past the IJDF has sponsored many clinics so individuals could be tested and counseled on Machado Joseph Disease.

98. Machado Joseph Disease
    Post Followup Return to Message Listings Print Message. Machado Joseph disease Posted by Darryl Garcia (ID *****7496) Date July 29, 2003 at 062037 of 1408.  
    http://genforum.genealogy.com/garcia/messages/1348.html

99. Mioti: Diseases + Conditions
    diseases + Conditions Machado Joseph disease. Search Mioti  
    http://www.mioti.com/cat/condition/condition.asp?Cat=MachadoJosephDise

100. Hum. Mol. Genet. -- Abstracts: Grewal Et Al. 8 (9): 1779
     9 17791784 © 1999 Oxford University Press French Machado–Joseph disease patients do not exhibit gametic segregation distortion a sperm typing analysis.  
     http://www3.oup.co.uk/hmg/Volume_08/Issue_09/ddc189_gml.abs.html
     
     Extractions: Oxford University Press Raji P. Grewal Geraldine Cancel Esther P. Leeflang Mary Sara McPeek David Draghinas Xiang Yao Giovanni Stevanin Marie-Odile Alnot Alexis Brice and Norman Arnheim Program in Molecular Biology, SHS 172, 835 West 37th Street, University of Southern California, Los Angeles, CA 90089-1340, USA, Department of Statistics, University of Chicago, Chicago, IL 60637, USA and CECOS-Necker, Groupe Hospitalier Necker-Enfants Malades, Paris, France Segregation distortion has been reported to occur in a number of the trinucleotide repeat disorders. On the basis of a sperm typing study performed in patients of Japanese descent with alleles are preferentially transmitted during meiosis. We performed

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