21. Hereditary Disease Foundation Home Page dystrophy, Kennedy's disease (spinobulbar muscular dystrophy), Haw River Syndrome, 3 types of hereditary ataxia, SCI1, Machado Joseph disease http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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

23. Entrez PubMed Expanded polyglutamine in the machadojoseph disease protein induces cell death in vitro and in vivo. Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

24. Central Nervous System Diseases Machado Joseph Disease (and the Jewish connction) MazorNet About the Gene for machado-joseph disease - Neurobiology of Disease (US) 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: Alzheimer Disease Arachnoiditis Brain Abscess Brain Abscess ... Uveomeningoencephalitic 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] How brain cells work [Cardoso et al.] EEG Course and Glossary [S Louis] About Normal EEG Variants [S Louis] - eMedicine 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 Hallervorden-Spatz Syndrome HSSA: Hallervorden-Spatz Syndrome Association - (US) Genetic aspects of Hallervorden-Spatz Syndrome - OMIM/NLM (US) A nineteen year old boy ... (Hallervorden-Spatz Syndrome)

25. Potential Therapeutic Role For The Ataxin-3 Protein For Machado-Joseph Disease Potential therapeutic role for the ataxin3 protein for machado-joseph disease. Medical Research News. Published Sunday, 3-Apr-2005 http://www.news-medical.net/?id=8883

26. Machado-Joseph Disease - Information & News machadojoseph disease - Information News Potential therapeutic role for the ataxin-3 protein for machado-joseph disease. // Medical Research News http://www.news-medical.net/?keyword=Machado-Joseph disease

27. Machado-Joseph Disease machadojoseph disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central http://www.bchealthguide.org/kbase/nord/nord110.htm

var hwPrint=1;var hwDocHWID="nord110";var hwDocTitle="Machado-Joseph Disease";var hwRank="1";var hwSectionHWID="nord110-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Machado-Joseph Disease Important It is possible that the main title of the report Machado-Joseph Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Autosomal Dominant Spinocerebellar Degeneration Azorean Neurologic Disease Machado Disease Joseph Disease MJD Nigrospinodentatal Degeneration Striatonigral Degeneration, Autosomal Dominant Type Spinocerebellar Ataxia Type III (SCA 3) Disorder Subdivisions Machado-Joseph Disease Type I (MJD-I) Machado-Joseph Disease Type II (MJD-II) Machado-Joseph Disease Type III (MJD-III) General Discussion Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain. Patients with MJD may eventually become crippled and/or paralyzed but their intellect remains intact. The onset of symptoms of MJD varies from early teens to late adulthood. Three forms of Machado-Joseph Disease are recognized: Types MJD-I, MJD-II, and MJD-III. The differences in the types of MJD relate to the age of onset and severity. Earlier onset usually produces more severe symptoms.

28. Machado-joseph Disease - Definition From Biology-Online.org Definition and other additional information on machadojoseph disease from Biology-Online.org dictionary. http://www.biology-online.org/dictionary/machado-joseph_disease

Forum Tutorials Dictionary Directory ... M machado-joseph disease machado-joseph disease A progressive degenerative disease of the central nervous system occurring in portuguese -azorean families , having a variety of forms and inherited as an autosomal dominant trait . There are four major types : type I: with pyramidal and extrapyramidal deficits ; type II: with cerebellar , pyramidal and extrapyramidal deficits; type III: with cerebellar deficits and distal sensorimotor neuropathy ; type IV : with parkinsonism and distal sensory neuropathy. It was originally reported in two portuguese-azorean families in massachusettes (machado), then in another portuguese family ( thomas ), and later in a third family in california ( joseph , who settled there in 1845). It has been reported also in japanese families. Search the dictionary About Us Contact Us Link to Us Chemistry ... Equations

29. Hill Health Topics A-Z - Machado-Joseph Disease machadojoseph disease. National Organization for Rare Disorders. Important It is possible that the main title of the report machado-joseph disease is not http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord110&SE

30. NORD - National Organization For Rare Disorders, Inc. machadojoseph disease (MJD-III), also called spinocerebellar ataxia type III Three forms of machado-joseph disease are recognized Types MJD-I, MJD-II, http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Machado-Josep

31. Machado-Joseph Disease What Are the Different Types of machadojoseph disease? What Causes machado-joseph disease? How Is machado-joseph disease Diagnosed? http://www.icongrouponline.com/health/Machado-Joseph_Disease.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: The Official Patient's Sourcebook on MACHADO-JOSEPH DISEASE (Autosomal Dominant Spinocerebellar Degeneration; Azorean Neurologic Disease; Machado Disease; Machado-Joseph Disease; Nigrospinodentatal Degeneration; Spinocerebellar Ataxia Type III; Striatonigral Degeneration, Autosomal Dominant Type) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Machado-Joseph Disease. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Autosomal Dominant Spinocerebellar Degeneration; Azorean Neurologic Disease; Machado Disease; Machado-Joseph Disease; Nigrospinodentatal Degeneration; Spinocerebellar Ataxia Type III; Striatonigral Degeneration, Autosomal Dominant Type Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Machado-Joseph Disease: Guidelines

32. Brazilian Journal Of Genetics - Molecular Characteristics Of Machado-Joseph Dise Molecular characteristics of machadojoseph disease mutation in 25 newly described machado-joseph disease (MJD) is a form of autosomal dominant http://www.scielo.br/scielo.php?pid=S0100-84551997000400026&script=sci_arttext&t

33. Arquivos De Neuro-Psiquiatria - machadojoseph disease VERSUS HEREDITARY SPASTIC PARAPLEGIA CAG expansions in a novel gene for machado-joseph disease at chromosome 14q32.1. http://www.scielo.br/scielo.php?pid=S0004-282X2001000500030&script=sci_arttext&t

34. Machado-Joseph Disease machadojoseph disease. Azorean neurologic disease Spinocerebellar ataxia type 3 (machado-joseph disease) severe destruction of the lateral reticular http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=679

35. NeuroRx -- Sign In Page CAG expansions in a novel gene for machadojoseph disease at chromosome The genomic structure and expression of MJD, the machado-joseph disease gene. http://www.neurorx.org/cgi/content/full/2/3/480

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to NeuroRx Online. Full Text Mouse Models of Machado-Joseph Disease and Other Polyglutamine Spinocerebellar Ataxias Colomer Gould NeuroRx. This Article Summary Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Alert me to new issues of the journal Download to citation manager PubMed Articles by Colomer Gould, V. F. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$10.00 Pay for Admission - You may access all content in NeuroRx Online (from the computer you are currently using) for 24 hours for US$20.00. Regain Access - You can regain access to a recent Pay per Article or Pay for Admission purchase if your access period has not yet expired.

36. Mouse Models Of Machado-Joseph Disease And Other Polyglutamine Spinocerebellar A Summary machadojoseph disease (MJD), also called spinocerebellar ataxia type 3, is caused by mutant ataxin-3 with a polyglutamine expansion. http://www.neurorx.org/cgi/content/abstract/2/3/480

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: NeuroRx This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Alert me to new issues of the journal Download to citation manager PubMed Articles by Colomer Gould, V. F. Mouse Models of Machado-Joseph Disease and Other Polyglutamine Spinocerebellar Ataxias Veronica F. Colomer Gould Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 Summary: Machado-Joseph disease (MJD), also called spinocerebellar ataxia type 3, is caused by mutant ataxin-3 with a polyglutamine expansion. Although there is no treatment available at present to cure or delay the onset of MJD, mouse models have been generated to facilitate the development of a therapy. In this review, the published reports on mouse models of MJD and other polyglutamine spinocerebellar ataxias are compared. Based on these studies, the following approaches will be discussed as candidate treatments for MJD: 1) interfering with the formation of the mutant ataxin-3 cleavage fragment and possibly aggregate or inclusions, 2) reducing

37. Machado-Joseph Disease - General Practice Notebook machadojoseph disease is an autosomal dominant neuromuscular degenerative disease. machado-joseph disease is also termed spinocerebellar ataxia type 3. http://www.gpnotebook.co.uk/cache/-234487767.htm

Machado-Joseph disease Machado-Joseph disease is an autosomal dominant neuromuscular degenerative disease. The clinical features are primarily cerebellar ataxia and ophthalmoplegia. Machado-Joseph disease is also termed spinocerebellar ataxia type 3. Click here for more information...

38. Treatment Of Machado-Joseph Disease With Trimethoprim-sulphamethoxazole Followin machadojoseph disease, also known as spino-cerebellar atrophy type 3, is a progressive, autosomal-dominant disorder. Originally described in individuals of http://www.nzma.org.nz/journal/117-1191/819/

Table of contents Current issue Search journal Archived issues ... Other journals Journal of the New Zealand Medical Association, 02-April-2004, Vol 117 No 1191 Treatment of Machado-Joseph disease with trimethoprim-sulphamethoxazole following successful desensitisation Jacob Ablin and Nino Elgan Machado-Joseph disease, also known as spino-cerebellar atrophy type 3, is a progressive, autosomal-dominant disorder. Originally described in individuals of Portuguese extraction, it has subsequently been identified worldwide, possibly derived from Portuguese travellers. The disease is caused by a (CAG)n trinucleotide repeat in the MJD1 gene, located on chromosome 14q32. Unexpectedly, trimethoprim-sulphamethoxasole has shown benefit in this disease. This has been attributed to increasing central nervous system biopterin levels. Disappointingly, however, a recent double-blind crossover trial failed to demonstrate a significant effect of trimethoprim-sulphamethoxasole in Machado-Joseph disease. In this paper, we report successful desensitisation of a male patient (allergic trimethoprim-sulphamethoxasole) suffering from Machado-Joseph disease, and outline subsequent treatment of his disorder.

39. Machado-Joseph Disease - St. Joseph Mercy, Ann Arbor Michigan machadojoseph disease - St. Joseph Mercy Health System Hospitals serving Ann Arbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/14430.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Machado-Joseph Disease Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Machado-Joseph Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Autosomal Dominant Spinocerebellar Degeneration Azorean Neurologic Disease Machado Disease Joseph Disease MJD Nigrospinodentatal Degeneration Striatonigral Degeneration, Autosomal Dominant Type Spinocerebellar Ataxia Type III (SCA 3) Disorder Subdivisions Machado-Joseph Disease Type I (MJD-I) Machado-Joseph Disease Type II (MJD-II) Machado-Joseph Disease Type III (MJD-III) General Discussion Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain. Patients with MJD may eventually become crippled and/or paralyzed but their intellect remains intact. The onset of symptoms of MJD varies from early teens to late adulthood. Three forms of Machado-Joseph Disease are recognized: Types MJD-I, MJD-II, and MJD-III. The differences in the types of MJD relate to the age of onset and severity. Earlier onset usually produces more severe symptoms.

40. Machado-Joseph Disease Presenting As Severe Asymmetric Proximal Neuropathy -- Va machadojoseph disease should be considered in progressive axonal neuropathy. Keywords neuropathy; machado-joseph disease; SCA3; trinucleotide repeat http://www.jnnp.com/cgi/content/abstract/63/4/534

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by van Schaik, I N Articles by de Visser, M J Neurol Neurosurg Psychiatry 534-536 ( October ) Short report Machado-Joseph disease presenting as severe asymmetric proximal neuropathy I N van Schaik, M Vermeulen, H Keizers, P A Bolhuis, M de Visser Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands Received 31 January 1997 and in revised form 6 April 1997 Accepted 2 May 1997 Despite much effort, a 74 year old man with progressive proximal weakness and sensory disturbances due to axonal neuropathy remained a diagnostic problem. Investigation of his family disclosed

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