41. AFM Téléthon Isère L'association fran§aise contre les myopathies en Is¨re, un site pour ceux qui sont concern©s ou int©ress©s par les maladies g©n©tiques et neuromusculaires, la myopathie, le handicap et le T©l©thon. http://members.aol.com/delegation38/telethon.html

Accueil AFM Isère Informations Forum Le Téléthon » Faire un don La Nouvelle Frontière Des chiffres Index Editorial + Chanson du Téléthon + Musique du Téléthon + Téléthon d'autres pays L'affiche est prête, le parrain vous sera révélé... vous saurez bientôt tout sur la prochaine version du 19ème TÉLÉTHON les 2 et 3 décembre 2005 Un enfant qui tombe, un enfant qui perd ses forces, un enfant qui, petit à petit, ne marche plus, ne s'alimente plus seul, un enfant qui n'arrive plus à écrire, et qui, un jour, n'aura plus la force de respirer... voilà l'avenir qui était promis à nos enfants lorsque nous avons lancé le premier Téléthon en 1987 Cette réalité n'a pas disparu, loin s'en faut, mais elle s'est progressivement améliorée et nos espoirs sont là, fragiles mais légitimes, pour croire en une vie qui sera meilleure. Une vie qui prendra le pas sur la maladie La recherche a accompli des progrès considérables depuis 1987 . trois Généthon ont vu le jour au cours des années passées et chacun d'eux est le symbole de progrès décisifs vers la mise au point de traitements Généthon 1 a permis la création des premières cartes du génome, Généthon 2 est à l'origine de la découverte de plus de 750 gènes et Généthon 3, programme actuel, est engagé sur 6 projets cliniques stratégiques

42. Myopathies myopathies de l enfant avec une prévalence Elles correspondent à un groupe de myopathies hétérogènes dont http://www.med.univ-rennes1.fr/etud/neuro/myopathies.htm

Myopathies Service de neurologie, CHU de Rennes, 2 rue Henri Le Guilloux, 35033 Rennes Cedex 1.1 Dystrophies musculaires de l'enfant 1.2 Dystrophies musculaires de l'adulte 2 Les myopathies acquises 2.1 Myopathies endocriniennes ... 2.3 Myosites 1.1 Dystrophies musculaires de l'enfant 1.1.1 La maladie de Duchenne Signes cliniques : L'EMG Les enzymes musculaires La biopsie musculaire traitement est palliatif est donc capital. La dystrophie de Becker 1.2 Dystrophies musculaires de l'adulte 1.2.1 Dystrophie myotonique de Steinert Transmission autosomique dominante (chromosome 19) La clinique associe : La biopsie confirme le diagnostic. Les enzymes musculaires sont normales. Il n'existe pas de traitement curatif : traitement palliatif et surveillance cardiaque, ophtalmologique. Maladie assez rare, d'expression clinique variable. Transmission autosomique dominante. Les enzymes musculaires sont normales. 1.2.3 Myopathies des ceintures La transmission est variable suivant le type de myopathie. Deux tableaux possibles : - chez l'adulte, un tableau de myopathie des ceintures avec atteinte respiratoire, macro-glossie.

43. Myopathies CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians, http://www.chclibrary.org/micromed/00057610.html

Main Search Index Definition Description Causes ... Resources Myopathies Definition Myopathies are diseases of skeletal muscle which are not caused by nerve disorders. These diseases cause the skeletal or voluntary muscles to become weak or wasted. Description There are many different types of myopathies, some of which are inherited, some inflammatory, and some caused by endocrine problems. Myopathies are rare and not usually fatal. Typically, effects are mild, largely causing muscle weakness and movement problems, and many are transitory. Only rarely will patients become dependent on a wheelchair. However, muscular dystrophy (which is technically a form of myopathy) is far more severe. Some types of this disease are fatal in early adulthood. Myopathies are usually degenerative, but they are sometimes caused by drug side effects, chemical poisoning , or a chronic disorder of the immune system. Genetic myopathies Among their many functions, genes are responsible for overseeing the production of proteins important in maintaining healthy cells. Muscle cells produce thousands of proteins. With each of the inherited myopathies, a genetic defect is linked to a lack of, or problem with, one of the proteins needed for normal muscle cell function. There are several different kinds of myopathy caused by defective genes: Central core disease Centronuclear (myotubular) myopathy Myotonia congenita Nemaline myopathy Paramyotonia congenita Periodic paralysis (hypokalemic and hyperkalemic forms)

44. Mitochondrial Myopathies The mitochondrial myopathies are a group of neuromuscular diseases of the mitochondria. http://healthlink.mcw.edu/article/921441138.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: By keywords: Receive Health Link via email! Subscribe now >> Mitochondrial Myopathies The mitochondrial myopathies are a group of neuromuscular diseases of the mitochondria. Mitochondria, which are small structures found in every cell in the body and are the "power plant" or energy-producing part of the cell, appear to cause the most damage in cells that require a great deal of energy such as nerves in the brain and muscles. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, oculocraniosomatic neuromuscular disease with ragged-red fibers, myoclonus epilepsy with ragged-red fibers (MERRF), and mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS). The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, vomiting, and seizures. These disorders range in severity from progressive weakness to death. The age of onset ranges from birth to adult life, with the majority of cases occurring before the age of 20. Exercise intolerance or muscle weakness usually develops by age 10. During activity, active muscles may become easily fatigued or weak. Nausea, headache and breathlessness are also sometimes associated.

45. Téléthon - Bienvenue Sur Le Site Du Téléthon Site officiel de l'Association fran§aise contre les myopathies (AFM). Informations sur les ©v©nements, articles de presse, appel aux contributions, possibilit© de faire un don en ligne. http://www.telethon.fr

var hb = history.length; Bienvenue sur le site du Téléthon. Accessibilité avec Handilog Aide Plan du site English Recherche : Pourquoi ? Près de chez vous Sur le Web Impliquez votre entreprise ... Téléthon 2005 "J'avais envie de m’investir pleinement. J'ai donc organisé une course cycliste reliant le Siège de mon entreprise (à Lognes) au magasin de St Priest (69) où je travaille. Le parcours que j'avais tracé passait par plusieurs magasins pour récolter des dons. Ensuite, avec une dizaine d'amis, on s'est relayé tout le long du parcours." Rémy Mieulane Comuniqué de presse : Le shopping solidaire, l’achat Téléthon Les 2 et 3 décembre prochains, le Téléthon 2005 fera bouger la France. Comment participer ? Rien de plus simple, en faisant vos courses auprès des entreprises partenaires du Téléthon qui proposent, cette année encore, des idées shopping toujours plus originales au profit du Téléthon. Pour en savoir plus cliquez ici Prochain Téléthon : 2 et 3 décembre 2005 Des pros pour le Téléthon : S'inscrire à la lettre d'informations : Inscrivez-vous à la newsletter Près de chez vous Le Téléthon recrute des bénévoles toute l'année. Consultez les coordonnées des coordinations locales pour en savoir plus ...

46. BCM-Neurology-Research Neuromuscular Disease-Metabolic Myopathies Metabolic myopathies In both glycogen and lipid storage myopathies, quantitative measurement of the deficient enzyme will confirm the diagnosis. http://www.bcm.edu/neurology/research/nmus/nmus3a5.html

Print This Page Close Window Metabolic Myopathies The muscle biopsy also helps to confirm some abnormalities of the lipid metabolism. In those cases the muscle biopsy is essentially normal except for the presence of abnormal lipid deposits in the majority of the fibers with oil-red-O stain. In both glycogen and lipid storage myopathies, quantitative measurement of the deficient enzyme will confirm the diagnosis. There is no specific treatment for many of the metabolic muscle disorders. Once a particular defect is identified, attempts are made to instruct the patient to avoid precipitating factors. In some disorders, such as carnitine deficiency, a lipid myopathy, attempts have been made with variable success to treat the condition with oral carnitine. Oil-red-O stain showing increased number of lipid droplets. For Information : Y. Harati, M.D., F.A.C.P.

47. Téléthon Dans Le Pays Granvillais - Granville Et Sa Région Les manifestations au profit de l'AFM (Association Fran§aise contre les myopathies) dans Granville et sa r©gion. http://telethongranvillais.free.fr

Accueil Calendrier Manifestations Partenaires ... Faire un don Accueil Sur ce site, vous trouverez: Les manifestations du pays Granvillais Les rendez-vous Des de malades: Les descriptions des maladies (Ehlers-Danlos, Littel, Wilson, myopathies...) Un forum et bien d'autres choses... mail

48. Neuromuscular Disease Research: Myopathies Menu Symptoms of myopathies are related to difficulties arising from the weakness of the Other symptoms that can be seen in certain myopathies include muscle http://www.bcm.edu/neurology/research/nmus/nmus3a.html

Myopathies Myopathy is a general term that implies disease of the muscle. Diseases of the muscle are usually characterized by weakness. The weakness tends to involve the proximal muscles of the limbs, that is the muscles closer to the body, and might also involve the neck muscles. Symptoms of myopathies are related to difficulties arising from the weakness of the proximal muscles. Patients complain about difficulties climbing up stairs, getting up from a chair, rising from a squatting position, combing hair, and reaching for high objects. Other symptoms that can be seen in certain myopathies include muscle tenderness, and in late stage chronic cases, muscle atrophy. Polymyositis Dermatomyositis Inclusion Body Myositis Muscular Dystrophies ... Metabolic Myopathies Department of Neurology, Baylor College of Medicine Comments to: neurons URL:http://www.bcm.tmc.edu/neurol/index.html

49. Inflammatory Myopathies Inflammatory myopathies are a group of muscle diseases involving the inflammation and The inflammatory myopathies include dermatomyositis, polymyositis, http://132.230.36.11/neuromirror/ibm.html

50. Entrez PubMed Metabolic myopathies. Tein I. Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada. Disorders of glycogen, lipid or mitochondrial http://www.nutritionandmetabolism.com/pubmed/8795843

My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez 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 Mobile NLM Catalog NLM Gateway ... PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 1 Review: 1 Semin Pediatr Neurol.

51. THE MERCK MANUAL, Sec. 14, Ch. 184, Muscular Disorders Included are congenital and metabolic myopathies, including glycogen storage Congenital myopathies are a heterogeneous group of disorders that cause http://www.merck.com/mrkshared/mmanual/section14/chapter184/184b.jsp

52. THE MERCK MANUAL--SECOND HOME EDITION, Myotonic Myopathies In Ch. 73, Muscular D Myotonic myopathies are inherited disorders in which the muscles are not able to relax normally after contraction; muscle weakness and spasms may also occur http://www.merck.com/mmhe/sec05/ch073/ch073d.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Bone, Joint, and Muscle Disorders Chapter Muscular Dystrophy and Related Disorders Topics Introduction Duchenne and Becker Muscular Dystrophies Muscular Dystrophies (Other) Myotonic Myopathies Periodic Paralysis Myotonic Myopathies Buy The Book Print This Topic Email This Topic Pronunciations myotonic myotonic myopathies phenytoin Steinert's disease Myotonic myopathies are inherited disorders in which the muscles are not able to relax normally after contraction; muscle weakness and spasms may also occur. Myotonia congenita (Thomsen's disease) is a rare autosomal dominant disorder that affects males and females. Symptoms usually start in infancy. The hands, legs, and eyelids become very stiff because of an inability to relax the muscles. Muscle weakness, however, is usually minimal. The diagnosis is made from the child's characteristic appearance, inability to relax the grip of the hand rapidly after closing the hand, and prolonged contraction after the doctor taps a muscle. An electromyogram (a test in which electrical impulses from muscles are recorded (see

53. Myopathies myopathies neurologychannel - myopathies can be either genetically inherited or Multisystem Atrophy Myasthenia Gravis myopathies Neurofibromatosis http://www.health-nexus.com/myopathies1.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Myopathies Myopathies - neurologychannel Myopathies can be either genetically inherited or occur as a result of endocrine defects, ... Multisystem Atrophy Myasthenia Gravis Myopathies Neurofibromatosis Neuropathy Parkinson's Disease ... The Myositis Association A non-profit organization committed to helping people with inflammatory myopathies through a variety of information and support services. Myopathies - Muscular Dystrophy Assoc. Publications Myopathies Myopathies refer to a class of degenerative skeletal muscle disease that is not caused .... Muscle Autoantibodies Antibodies and complement in myopathies and neuromuscular junction disorders. Maintained by Washington University School of Medicine, St. Louis, MO. Myopathies Myopathies. Myositis, Dermatomyositis, Polymyositis. AARDA Polymyositis and Dermatomyositis. ACR Patient Information on Myopathies. Arthritis Foundation brochures. Baylor College of...

54. Mitochondrial Myopathies What is Mitochondrial myopathies? Is there any treatment? bullet. MELAS Online Network Mitochondrial myopathies Information for people with http://www.health-nexus.com/mitochondrial_myopathies.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Mitochondrial Myopathies NINDS - Mitochondrial Myopathies Nat'l Institute of Neurological Disorders and Stroke defines mitochondrial myopathies and describes treatment options, prognoses and research. ... What is Mitochondrial myopathies? Is there any treatment? ... MELAS Online Network: Mitochondrial Myopathies Information for people with Mitochondrial Myopathies and related disorders. Medical downloads, support list, information, multiple links to other sites. Facts About Mitochondrial Myopathies /01 MITOCHONDRIAL MYOPATHIES Facts About Mitochondrial Myopathies Dear Friends What Are Mitochondrial ... Mitochondrial Disease Special Issues in Mitochondrial Myopathies and Encephalo-Myopathies How ... Mitochondrial Myopathies Mitochondrial Myopathies. Mitochondrial Encephalomyopathies [3 more specific term/s, more link/s] Search PUBMED for Mitochondrial Encephalomyopathies: All Review ...

55. Mitochondrial Myopathies - Healthfinder® A general overview of mitochondrial myopathies that includes a description of the disorder, and treatment, prognosis and research information. http://mentalhealth.about.com/library/h/docs/bld02243.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a14' About Mental Health Resources Mental Health Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Mental Health Resources newsletter! See Online Courses Search Mental Health Resources Mitochondrial Myopathies internet URL http://www.ninds.nih.gov/health_and_medical/disorders/mitochon_doc.htm sponsoring agency National Institute of Neurological Disorders and Stroke, National Institutes of Health description A general overview of mitochondrial myopathies that includes a description of the disorder, and treatment, prognosis and research information. Suggested reading for more in-depth information and a list of referrals where users may obtain additional resources on mitochondrial myopathies are included. Keywords: Consumer Resources Myopathy Neuromuscular Diseases From Leonard Holmes, Ph.D. Your Guide to Mental Health Resources FREE Newsletter.

56. Muscular Dystrophy Campaign Factsheet describing mitochondral myopathies, causes, diagnosis, treatment and other issues surrounding the condition. http://www.muscular-dystrophy.org/information_resources/factsheets/medical_condi

About us News About your condition Research ... Community Accessibility Print Home Donate Sitemap Contact Mitochondrial myopathies Written for the Muscular Dystrophy Campaign by: Joanna Poulton, Professor and Honorary Consultant in Mitochondrial Genetics, University Dept Obstetrics and Gynaecology, John Radcliffe Hospital, Oxford Prof.L.Bindoff, Dept of Neurology, Hauleland, Sykehus, Bergen, Norway You can download this factsheet as a Word document: Mitochondrial myopathies.doc (33 kb) Contents: What are mitochondrial myopathies? Why do I have it? How did they diagnose me? What happens to people with mitochondrial myopathies? ... Support Group What are mitochondrial myopathies? Mitochondrial myopathy is a collective term for a group of diseases that particularly affect muscle, but which may also affect every other part of the body including the brain and the eye. Other names for these diseases include: Chronic Progressive External Ophthalmoplegia (CPEO) Kearns-Sayre Syndrome (KSS) Lactic Acidosis Leigh’s disease Mitochondrial Cytopathy Mitochondrial Encephalopathy Myoclonus Epilepsy Associated With Ragged-Red Fibres (MERRF) Stroke-like Episodes (MELAS) To Top Why do I have it?

57. Muscular Dystrophy Campaign Factsheet describing ocular myopathies, sympyoms and signs, inheritance patterns, diagnosis and management. http://www.muscular-dystrophy.org/information_resources/factsheets/medical_condi

About us News About your condition Research ... Community Accessibility Print Home Donate Sitemap Contact Ocular myopathies Written by Dr D.Hilton-Jones, Consultant Neurologist, Oxford for the Muscular Dystrophy Campaign. It has been recognised for many years that some patients with muscle disease have particular problems with the muscles around the eyes, although other parts of the body can also be involved. Whilst research is continuing, it appears that most of these patients have either oculopharyngeal muscular dystrophy (OPMD) or mitochondrial chronic progressive external ophthalmoplegia (CPEO). The main features of these disorders are discussed below. Some of the symptoms and signs are common to both disorders. You can download this factsheet as a Word document: Ocular Myopathies factsheet Contents: Oculopharyngeal muscular dystrophy (OPMD) Symptoms and signs Management How is OPMD inherited? ... Diagnosis Oculopharyngeal muscular dystrophy (OPMD) Muscular dystrophy is a term used to describe a number of conditions in which there is progressive muscle weakness, caused by the patient having a faulty gene. In OPMD the weakness mainly affects the ocular (eye) and pharyngeal (throat) muscles. To Top Symptoms and signs Although the abnormal gene is present from birth, patients do not usually develop symptoms until the fifth or sixth decade of life. The first sign of the disorder is usually

58. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Search results for Mitochondrial myopathies ALLFIELDS are shown below. Include trials that are no longer recruiting patients. 2 studies were found. http://www.clinicaltrials.gov/search/term=Mitochondrial Myopathies

Home Search Browse Resources ... About Search results for Mitochondrial Myopathies [ALL-FIELDS] are shown below. Include trials that are no longer recruiting patients. 2 studies were found. Recruiting Study of the Metabolism of Pyruvate and Related Problems in Patients with Lactic Acidemia Conditions: Mitochondrial Myopathy; MELAS Syndrome; Lactic Acidosis Recruiting Study of Inherited Neurological Disorders Conditions: Ataxia; Motor Neuron Disease; Muscular Disease; Muscular Dystrophy; Peripheral Nervous System Disease U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Privacy ... Freedom of Information Act

59. PURPOSE MISSION ADVANCEMENT OF RESEARCH FOR myopathies, INC., A NONPROFIT ORGANIZATION (ARM) understands that patents and licensing agreements may be sought on inventions http://www.hibm.org/grantguideline/

pdf Advancement of Research for Myopathies (ARM) ARM purpose and goal is to accelerate biomedical research aimed at developing treatments for Autosomal Recessive Vacuolar or Inclusion Body Myopathies associated with GNE mutations (IBM2- MIM:600737 , Nonaka/DMRV- MIM:605820 ONLY TWO GRANT REVIEW ROUNDS ARE HELD EACH YEAR.  ONLY ONE "REQUEST FOR GRANT APPLICATION" IS PERMITTED PER GRANT REVIEW ROUND. SPRING REVIEW FALL REVIEW Request for Grant Application: Submission of Application: Pre-Application Deadline: December 15 Application Deadline: January 15 Award Start Date: July 1 Request for Grant Application: Submission of Application: Pre-Application Deadline: June 15 Application Deadline: July 15 Award Start Date: January 1 CONTACT Advancement of Research for Myopathies (ARM) Grants Manager - Research Department PO Box 261926 Encino, CA 91426-1926 Tel: (800) 276-2000 Fax: (818) 337-7250 Please do not use a private carrier such as FedEx or AirbornExpress because they will not deliver to a U.S. Post Office Box. Thank you.

60. The Beggs Lab - The Congenital Myopathies General information on the genetics of the congenital myopathies. http://www.chb-genomics.org/research/beggs/tcm.html

Information for Patients and their Families: The Myopathies More on this site: The Myopathies Muscle Anatomy and Genetics Diseases Participating in Research Ways to Help ... Frequently Asked Questions Overview The "myopathies" is the name given to a group of neuromuscular disorders that affect skeletal muscle , causing generalized muscular weakness among other symptoms. Literally, the word myopathy means "disease of the muscle" (myo=muscle; Gr. pathos=disease). Other types of myopathies are the inflammatory myopathies, the channelopathies, the metabolic myopathies, the mitochondrial myopathies, the dystrophic myopathies, and the non-dystrophic myopathies. Although all these myopathies affect skeletal muscle, the mechanisms that cause disease are different in each type. In the Beggs laboratory, we focus on a group of

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