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

Curriulum Vitae M.D., National Defense Medical Center Resident, Taipei Veterans General Hospital,Taiwan ¬ü°ê ¯«¸g¾Ç¡BÂå¾Ç¿ò¶Ç¾Ç±M¬ìÂå®v Diplomate, American Board of Medical Genetics (Biochemical and Molecular Genetics) ¯«¸gÂå¾Ç¤¤¤ß¥DªvÂå®v present physician Staff , The Neurological Institute, Taipei Veterans General Hospital,Taiwan ¶§©ú¤j¾Ç Ph.D. from National Yang-Ming University School of Medicine,Taipei,Taiwan ¶§©ú¤j¾Ç Âå¾Ç¨t ±M¥ô±Ð±Â Professor, National Yang-Ming University School of Medicine,Taipei,Taiwan Fellow, American Academy of Neurology ¬ü°ê¤À¤l°ò¦]¯f²z¾Ç ±M¬ìÂå®v 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

§ºª¤åÂå®v Dr. Bing-Wen Soong Dissertation ¡G Characterization and Transcriptional Study of the cea Gene of the Col E7 Plasmid. Col E7 cea °ò¦]¤§¯S©Ê¤ÀªR¤ÎÂà¿ý¤§¬ã¨s Related publication ¡G Soong BW , Lui FM, Chak KF. Characterization of the cea gene of the ColE7 plasmid. Mol Gen Genet. 1992;233:177-83. Soong BW , Hsieh SY, Chak KF. Molecular study of the expression of the ColE7 operon. Mol Gen Genet. 1994;243:477-81. Publication ¡G 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

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Email this article to a friend Similar articles found in: Hum. Mol. Genet. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Maruyama, H. Nishio, T. Alert me when: new articles cite this article Download to Citation Manager ARTICLES Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease H Maruyama, S Nakamura, Z Matsuyama, T Sakai, M Doyu, G Sobue, M Seto, M Tsujihata, T Oh-i and T Nishio 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

Name Goto Jun Job Title Research Associate Function Name Graduate School of Medicine Faculty University Hospital Internal Medicine Lecture Course Undergraduate Program in the 1st Semester Undergraduate Program in the 2nd Semester Graduate School Study Field MEDICINE /Internal Medicine /Neurological Medicine Current Study Theme CAG repeat disease Amytrophic lateral sclerosis Ion channel Study Contents by Key Word CAG repeat, Neuronal cell death, Gain-of-function, Motor neuron Ion channel Literary Works (Books,Writings), 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

CAG¥ê¥Ô¡¼¥ÈÉ¡¡ CAG¥ê¥Ô¡¼¥È¡¢¿À·ÐºÙ˦»à¡¢Gain-of-function¡¢±¿Æ°¥Ë¥å¡¼¥í¥ó 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

Machado-joseph-disease treatment This article submitted by thorsten schulte on 2/4/97. Author's Email: thorsten.schulte@rz.ruhr-uni-bochum.de Hallo, I´m a german medical student and have been working in a clinical trial on the effect of sulfamethoxazole and trimethorin (Bactrim) on neurologic dysfunction in patients with Joseph´s disease, for one year now. Has anybody (patient or M.D.)any experience with this form of therapy ? Maybe we could discuss our results. Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") or other "special" characters in your Article title! Also, please be sure to make your Response Title something descriptive...NOT the same title as the original article.. Response Title: Author: Author Email: Response Text: Original Article: (Don't change this field!)

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

Jewish Genetic Diseases A Mazornet Guide VISIT MazorNet's other Jewish Guides The MazorNet-Jewish Celebrations Kosher Restaurant Guide The MazorNet- Jewish Celebrations Vendor Directory ( ... Photographers, Kosher Caterers, Bridal Gowns, and Much More) Important Information Home Page Genetic Counseling and Screening Genetic Screening Laboratories - A Directory A Brief Key to Basic Genetic ... s Select Disorder Bloom's Syndrome Breast and Ovarian Cancers Breast Cancers - Prevention and Resources Canavan Disease ... Ulcerative Colitis Recommended Reeading Genetic Diversity Among Jews - Diseases and Markers at the DNA Level Provides an authoritative, up-to-date account of the impact of molecular genetics on our understanding of genetic diseases prevalent among Jews. Jewish Genetic Disorders : A Layman's Guide Guide to genetic disorders that tend to affect the Jewish population more than the non-Jewish, including a short history of the Jews and basic facts concerning genetics and genetic disorders. Interactive Jewish Genetic Diseases Boards Machado Joseph Disease Origins of Machado Joseph Disease and the Jewish Connection What is the Machado Joseph Disease?

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

MACHADO JOSEPH DISEASE This article submitted by EDUARDO NEVES on 8/13/98. Email Address: FAMILIANEVES@MAIL.TELEPAC.PT I HAVE MACHADO JOSEPH DISEASE AND I READ AN ABSTRACT IN THE JOURNAL NEUROPATHOLOGY EXP NEUROL OF LAST MAY PP426-428 ABOUT THE PROMISSING POTENTIAL OF IGF-I IN TREATING DEGENERACTIVE DISEASES OF THE CNS. I' WOULD APPRECIATTE VERY MUCH IN LISTENINGS YOUR OPINIONS. THANK YOU. Next Article Previous Article Return to Neurological Disorder Topic Menu Here is a list of responses that have been posted regarding this article... Machado Joseph (8/18/98) 2:05 AM If you want to post a completely new article on any topic you like, click here. If you would like to post a direct response to this article, fill out this form completely... Response Title: Name: Email: Remember that your Name and Email Address are optional...you don't have to enter them! You can remain completely anonymous if you like by leaving these fields empty. Response Text: Click HERE to return to the main Neurology WebForum Homepage.

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

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 communities of Sephardic Jews settled at one time. The Joseph family was from this area. It has been reported that MJD is found in Portugal, with the largest of these families along the Douro River, as far north as Freixo-de-Espada-a-Cinta to the Atlantic coast in Porto. MJD has been found in families in Brazil, Angola, France, and Germany. One Brazilian patient claims to be of Jewish descent from Amsterdam (Coutinho, unpublished observation). Other reported families are from Japan, India, China, Australia, the Netherlands, and Israel! because of a wall of high mountains. I found medical research articles written about MJD in 1996 and 1997 from the Department of Human Genetics, Hadassah Medical Center, Hebrew University Medical School, Jerusalem, Israel. There is one hospital in Israel which provides care for patients with Machado-Joseph disease.

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

var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" Check out the NEW Hotbot Tell me when this page is updated MACHADO JOSEPH DISEASE-MJD SYMPTOMS OF MACHADO JOSEPH DISEASE *weakness in the arms and legs *spasticity *staggering, lurching gait,easily mistaken for drunkenness *difficulty with speech and swallowing *involuntary eye movements *double vision *frequent urination 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. HOW IS MACHADO-JOSEPH DISEASE INHERITED? 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. Prepared by Office of Scientific and Health Reports National Institute of Neurological and Communicative Disorders and Stroke Bethesda, Maryland 20892

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

NorthEast Classified Network Confronting Machado Joseph disease Blood test can detect incurable neurological disorder that strikes Portuguese population By Charlene Rocha, Standard-Times correspondent Cultural heritage plays a significant role in the likelihood of contracting certain diseases. African-Americans, for example, are chiefly at risk for sickle-cell anemia and Jews for Tay-Sachs disease. Machado Joseph disease, a hereditary and degenerative neurological disorder, strikes the Portuguese population. Dr. Joseph Monteiro, an internist at St. Anne's Hospital in Fall River, recommends that his Portuguese patients, especially those thinking of having children, take a new blood test to detect the disease. The decision to have children is, naturally, up to the parents, "but they should be informed about the risks involved," Dr. Monteiro said. Dr. Monteiro suggests people undergo the blood test in early adulthood before beginning a family. There is a 50 percent chance that the disease will be passed on from parent to child, he said. Symptoms of Machado Joseph disease include problems with coordination, speech impairment, involuntary eye movements and loss of muscle strength in the legs.

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

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Lesch-Nyhan Syndrome : Machado Joseph Disease Directory Listing Title: Machado Joseph Disease Description: Origins of the disease and the Jewish connection. Symptoms, diagnosis, ongoing rsearch information, and resources. Date Added: 2/4/2004 1:24:50 PM URL: http://www.mazornet.com/genetics/machado.asp

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

What's MJD? MJD Research Make a Donation to IJDF Founding of IJDF ... E-Mail Us IJDF Founding 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

DisplayAdBanner("Top,Right,Bottom!Top", 468, 60 , "boards/") Chat Daily Search My GenForum Community Standards ... Terms of Service Jump to Forum Home Surnames Garcia Family Genealogy Forum Machado Joseph Disease Posted by: Darryl Garcia (ID *****7496) Date: July 29, 2003 at 06:20:37 of 1414 My ancestory appears to come from Portugal and I am investigating if this disease runs in my family as my son has a undiagnosed disease, see http://69.10.163.110/bastiana/sephardic.html Thanks Darryl Notify Administrator about this message? Followups: Re: Machado Joseph Disease Antonia Pruneda http://genforum.genealogy.com/garcia/messages/1348.html Search this forum: Find all of the words Find any of the words Search all of GenForum: Proximity matching Link to GenForum Add Forum DisplayAdBanner("Top,Right,Bottom!Right", 0, , "boards/") Home Help About Us Site Index ... Affiliate DisplayAdBanner("Bottom", 728, 90 , "boards/") DisplayAdBanner("Position1", 0, , "boards/")

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

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Full Text of this Article PDF Version of this Article Email this article to a friend Similar articles found in: Hum. Mol. Genet. Online PubMed PubMed Citation Search PubMed for articles by: Grewal, R. P. Arnheim, N. Alert me when: new articles cite this article Download to Citation Manager Human Molecular Genetics, 1999, Vol. 8, No. 9 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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