81. UD Biological Sciences - Nemours: Dr. Vicky L. Funanage of Delaware) Studying the genetics of barth syndrome and spinal muscular atrophy.Also conducts diagnostics for barth syndrome, spinal muscular atrophy, http://www.udel.edu/bio/nemours/people/vfunanage.html

Home Search this site all UD sites Google for About Us Education Research People Vicky L. Funanage, Ph.D. Director, Biomedical Research of the Nemours Foundation Head, Muskuloskeletal Inherited Diseases Laboratory Contact Funanage A.I. duPont Hospital for Children Nemours Biomedical Research 1600 Rockland Road Wilmington, DE 19803 Phone: (302) 651-6819 Fax: (302) 651-6876 E-mail: vfunanag@nemours.org Education B.S., M.S.: Pennsylvania State University Ph.D.: University of Delaware Postdoctoral: Alfred I. duPont Hospital Research Interests One area of interest concerns children afflicted with neuromuscular disease. Ongoing research conducted in Dr. Funanage's laboratory (Musculoskeletal Inherited Disease Laboratory [MID]) involves several projects designed to provide benefit to these children. The first involves the use of the compound hemin as a possible treatment for muscular dystrophy. Past research has shown that hemin increases the expression of muscle-specific genes and decreases the fibrosis associated with muscular dystrophy. In work conducted in the dystrophic dog model, intravenous administration of hemin showed positive trends in improving muscle strength; however, further work showed that very little of the administered hemin was reaching skeletal muscle. Together with Dr. Tatiana Samoylova of Auburn University, the MID laboratory is working on a novel method that is expected to increase the delivery of hemin to muscle tissue. The second area of interest involves spinal muscular atrophy, the second most common genetic cause of muscle weakness and wasting in children. This research, done in collaboration with Dr. Mena Scavina, Division of Neurology at Alfred I. duPont Hospital, has revealed increased expression of a protein called RAD (for ras associated with diabetes) in cells of spinal muscular atrophy patients. Overexpression of RAD has been shown to inhibit glucose uptake into tissues, providing a possible explanation for the muscle wasting and weakness seen in this disease. Therapeutics for spinal muscular atrophy are, thus, focusing on ways to decrease expression of RAD, particularly in skeletal muscle.

82. !Story - SIMCOE.COM V3 - Family Hopes To Raise Awareness Of Rare Disorder The disorder is called barth syndrome, named after Dr. Peter Barth, barth syndrome boys (or Barth boys, as they are often called) have heart muscle http://www.simcoe.com/sc/alliston/lifestyles/story/2937745p-3404141c.html

Thu, Sep 8th, 2005 HOME CLASSIFIEDS REAL ESTATE ABOUT US ... Send Me Headlines News Happenings Sports and Rec Lifestyles Law and Order Business Editorial Columns Cartoon Letters Games Room Photo Gallery Special Sections Ryan and Catharine Ritter Family hopes to raise awareness of rare disorder Sandy Poitras: Special Published: Wed, Jul 27th, 2005 Ryan Ritter is a bright, quick-witted and popular 14-year-old, who, like most of his friends, is currently enjoying the lazy days of summer and not thinking very much about the inevitable return to school this fall where he will enter Grade 8 at Baxter Central Public School. You'll find him hanging out at the cottage, fishing, swimming, visiting with friends, or hosting the occasional bonfire at his family's house in Utopia. Other than the fact he cannot physically exert himself very much, and the dose of digoxin he takes every day for his heart, he's a pretty ordinary teenager. Yet Ryan has an extraordinary story to tell. And it is hoped that through his story and the stories of boys like him, awareness will be raised about a rare but serious genetic disorder that has been snuffing out the lives of infant boys all over the world, regardless of race and denomination. The disorder is called Barth Syndrome, named after Dr. Peter Barth, a pediatric neurologist from The Netherlands who was the first to publish detailed findings of the syndrome back in 1981. It is an X-linked recessive genetic condition, meaning it can be transferred from mother to son.

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85. Neutrophils In Barth Syndrome (BTHS) Avidly Bind Annexin-V In The Absence Of Apo barth syndrome (BTHS) is a rare Xlinked disease characterized by a triad of dilated Deficiency of tetralinoleoylcardiolipin in barth syndrome. http://www.bloodjournal.org/cgi/content/full/103/10/3915

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Blood, 15 May 2004, Vol. 103, No. 10, pp. 3915-3923. Prepublished online as a Blood First Edition Paper on February 5, 2004; DOI 10.1182/blood-2003-11-3940. This Article Abstract Full Text (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Rights and Permissions PubMed PubMed Citation Articles by Kuijpers, T. W. Articles by Barth, P. G. Related Collections Apoptosis Cell Adhesion and Motility Phagocytes Related Letter in Blood Online PHAGOCYTES Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis Taco W. Kuijpers Nikolai A. Maianski Anton T. J. Tool Kolja Becker Barbara Plecko Fredoen Valianpour Ron J. A. Wanders Rob Pereira Johan Van Hove Arthur J. Verhoeven Dirk Roos Frank Baas , and Peter G. Barth

86. Neutrophils In Barth Syndrome (BTHS) Avidly Bind Annexin-V In The Absence Of Apo barth syndrome (BTHS) is a rare Xlinked disease characterized by a triad ofdilated cardiomyopathy, skeletal myopathy, and neutropenia. http://www.bloodjournal.org/cgi/content/short/2003-11-3940v1

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Blood, 15 May 2004, Vol. 103, No. 10, pp. 3915-3923. Prepublished online as a Blood First Edition Paper on February 5, 2004; DOI 10.1182/blood-2003-11-3940. This Article Full Text (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Rights and Permissions PubMed PubMed Citation Articles by Kuijpers, T W Articles by Barth, P G Related Collections Related Letter in Blood Online Submitted December 3, 2003 Accepted January 18, 2004 Neutrophils in Barth Syndrome (BTHS) avidly bind Annexin-V in the absence of apoptosis T W Kuijpers N A Maianski, A T Tool, K Becker, B Plecko, F Valianpour, R J Wanders, R Pereira, J Van Hove, A J Verhoeven, D Roos, F Baas, and P G Barth Emma Children Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands Emma Children Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Sanquin Research at CLB, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

87. June 14, 2002 -- SSTI Weekly Digest Funding Supplement barth syndrome Foundation; Community Technology Fund of Ohio The barth syndromeFoundation serves to help find a cure for barth syndrome and to educate http://www.ssti.org/Digest/2002/Supplements/061402supplement.htm

In the June 14, 2002 Supplement: Low-income Communities Get Boost from New Markets Tax Credit Program Federal Research Opportunities National Institutes of Health National Science Foundation Foundation Research Opportunities Barth Syndrome Foundation Community Technology Fund of Ohio Cure Autism Now Flight Attendant Medical Research Institute ... Verizon Foundation SSTI Weekly Digest Digest do not necessarily reflect the official position of the U.S. Department of Commerce. Subscription to the SSTI Weekly Digest is free. If you are reading a forwarded copy of this issue and would like to receive your own copy each week directly, please subscribe at: http://www.ssti.org/Digest/digform.htm Requests to unsubscribe should be sent to sstiwd@ssti.org Low-income Communities Get Boost from New Markets Tax Credit Program The Department of Treasury recently announced the first competitive round for the allocation of tax credits under the New Markets Tax Credit Program ( NMTC), a program designed to stimulate private sector investment in the economic development of low-income communities.

88. Health Library - 12.42.224.150/library/healthguide/enus/SelfHelp/t Research Matters at UGAbarth syndrome Foundation, Inc. (BSF) - is pleased to announce the availabilityof funding for research on the natural history, biochemical basis, http://12.42.224.150/library/healthguide/en-us/illnessconditions/topic.asp?hwid=

89. Barth Syndroom Nederlandse pagina van de Internationale barth syndrome Foundation.Met contactadres van de Nederlandse afdeling van de barth syndrome Trust. http://www.erfelijkheid.nl/zena/barth.php

A B C D ... OVERIG Barth Syndroom Synoniemen - 3-Methylglutaconic Aciduria, Type II (MGA, Type II) - Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria - X-Linked Cardioskeletal Myopathy and Neutropenia Korte beschrijving Het Barth syndroom is een aangeboren en erfelijke stofwisselingsziekte. Het wordt veroorzaakt door een enzym dat niet meer functioneert. Daardoor wordt er te weinig energie in de spieren gemaakt. De aandoening openbaart zich meestal in de jeugd. Het komt vrijwel alleen voor bij jongens. Het Barth syndroom veroorzaakt spierzwakte, ook van de hartspier. De spierzwakte veroorzaakt algehele vermoeidheid, bijvoorbeeld bij het lopen, maar ook bij schrijven of tekenen. Een ander kenmerk van het Barth syndroom is een verminderde weerstand. Dit komt door een tekort aan witte bloedlichaampjes. Nog een kenmerk is het uitscheiden van bepaalde zuren in de urine. En jongens met het Barth syndroom groeien minder snel. De ziekteverschijnselen nemen niet toe, maar goede en slechte periodes wisselen elkaar af. In slechte periodes komen vaak misselijkheid, braken en diarree voor. In periodes van stress of tijdens een groeispurt zijn de ziekteverschijnselen heviger. Als de diagnose Barth syndroom vroeg gesteld wordt, kan het hartprobleem goed worden behandeld. De overlevingskans in de eerste jaren is dan 85-90%. Wordt de diagnose niet op tijd gesteld dan is de overlevingskans in de eerste jaren 30%.

90. Category: BARTH SYNDROME » Medical Related Associations Medical Related Associations » barth syndrome. Total 1 1 1 « 1 ». barth syndromeFoundation. Total 1 1 - 1 « 1 ». COPYRIGHT © 2001 - 2004 Medical http://www.medfamily.org/gov/gov-terms-BARTH_SYNDROME-page0.chtml

Main Menu Med Family Home Medical Dictionary Medical Diagnosis ... WALDENSTRÖM`S MACROGLOBULINEMIA General MedAbbreviations MedGlossay Affiliates Pediatric Department of Tehran University Total : Barth Syndrome Foundation Total : Joint Partnership with Care Earth SGU Community Solo Futbol TUMS-Ped ... Cheap Store We're still here, you rockin' with the best! var site="sm4dicmedfamily"

91. Projects Studies Conducted By The The Math Skills Development Project Team We are addressing whether young children with barth syndrome show any specific We do not know whether children with barth syndrome have a specific http://www.msdp.kennedykrieger.org/projects.htm

The Math Skills Development Project (MSDP) PROJECT STUDIES conducted by the Math Skills Development Project Team: Elementary School Math Project (ESMP): Public School Based Sample Study Elementary School Math Project (ESMP): Math Skills in Girls with Fragile X Syndrome Elementary School Math Project (ESMP): Math Skills in Girls with Turner Syndrome Elementary School Math Project (ESMP): Math Skills in Children with Barth Syndrome ... Middle School Math Project (MSMP) 1) Elementary School Math Project (ESMP): Public School Based Sample Study Funded by a grant from the National Institute of Child Health and Human Development This is a study that began in the 1997-98 school year. A group of kindergartners was enrolled and followed annually through fifth grade. Because this is a longitudinal study, we are not recruiting participants. We will continue following this group as long as possible. We plan to recruit a new cohort for a screening and intervention study. 2) Elementary School Math Project (ESMP): Math Skills in Girls with Fragile X Syndrome Funded by a grant from the National Institute of Child Health and Human Development In this component of the study, we are addressing whether young girls with fragile X syndrome are at risk for math learning disability, and whether there are specific aspects of mathematical achievement that are difficult for girls with this disorder. We are including, in our research, only girls who have the fragile X full mutation. We know from other studies of older girls and adult females with fragile X that math seems to be an area of difficulty. We are exploring whether this is the case for younger girls. We are recruiting girls who are ages 5 to 10 years, who have fragile X, and who are in kindergarten, first, second, third or fourth grade. For more information about the fragile X syndrome, you can browse titles of our manuscripts on fragile X, visit the

92. VSN: Nieuws Dit wordt georganiseerd door de barth syndrome Trust in samenwerking met het Emma De barth syndrome Foundation geeft een internationale nieuwsbrief uit, http://www.vsn.nl/onderzoek/nieuws.php?diagnose_id=0&nieuws_id=500

93. TAZbase Mutation Publications A novel mutation in the G4.5 (TAZ) gene in a kindred with barth syndrome. barth syndrome clinical observations and genetic linkage studies. http://bioinf.uta.fi/TAZbase/tazpubs.html

TAZbase mutation publications Search PubMed latest citations for TAZ mutations A novel mutation in the G4.5 (TAZ) gene in a kindred with barth syndrome. Vesel, S., Stopar-Obreza, M., Trebusak-Podkrajsek, K., Jazbec, J., Podnar, T., Battelino, T. Eur J Hum Genet PubMed abstract Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. Bissler, J. J., Tsoras, M., Goring, H. H., Hug, P., Chuck, G., Tombragel, E., McGraw, C., Schlotman, J., Ralston, M. A., Hug, G. Lab Invest PubMed abstract Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a japanese patient with barth syndrome. Sakamoto, O., Kitoh, T., Ohura, T., Ohya, N., Iinuma, K. J Hum Genet PubMed abstract Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Chen, R., Tsuji, T., Ichida, F., Bowles, K. R., Yu, X., Watanabe, S., Hirono, K., Tsubata, S., Hamamichi, Y., Ohta, J., Imai, Y., Bowles, N. E., Miyawaki, T., Towbin, J. A. Mol Genet Metab PubMed abstract A novel intronic mutation of the TAZ ( G4.5) gene in a patient with barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.

94. Health Library - The barth syndrome Fdn. PO Box 974 Perry, FL 32348 CALL 850223-1128 (Voice/Fax)E-MAIL info@barthsyndrome.org WEBSITE http//www.barthsyndrome.org http://www.covenanthealth.org/library/healthguide/en-us/SelfHelp/topic.asp?hwid=

95. Novel Gene Mutations In Patients With Left Ventricular Noncompaction Or Barth Sy A novel Xlinked gene, G4.5, is responsible for barth syndrome. Nat Genet.1996;12385–389.Medline; Neustein HB, Lurie PR, Dahms B, et al. http://circ.ahajournals.org/cgi/content/full/103/9/1256

This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Ichida, F. Articles by Towbin, J. A. Related Collections Myocardial cardiomyopathy disease Genetics of cardiovascular disease Circulation. Clinical Investigation and Reports Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome Fukiko Ichida, MD Shinichi Tsubata, MD Karla R. Bowles, PhD Noriyuki Haneda, MD Keiichiro Uese, MD Toshio Miyawaki, MD W. Jeffrey Dreyer, MD John Messina, MD Hua Li, PhD Neil E. Bowles, PhD Jeffrey A. Towbin, MD Correspondence to Jeffrey A. Towbin, MD, Department of Pediatrics (Cardiology), Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030. E-mail Abstract Top Abstract Introduction Methods Results Discussion References Background result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including isolated

96. Novel Gene Mutations In Patients With Left Ventricular Noncompaction Or Barth Sy as well as barth syndrome (BTHS) with dilated cardiomyopathy (DCM). FM Vaz, RH Houtkooper, F. Valianpour, PG Barth, and RJA Wanders http://circ.ahajournals.org/cgi/content/abstract/103/9/1256

This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Ichida, F. Articles by Towbin, J. A. Related Collections Myocardial cardiomyopathy disease Genetics of cardiovascular disease Circulation. Clinical Investigation and Reports Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome Fukiko Ichida, MD Shinichi Tsubata, MD Karla R. Bowles, PhD Noriyuki Haneda, MD Keiichiro Uese, MD Toshio Miyawaki, MD W. Jeffrey Dreyer, MD John Messina, MD Hua Li, PhD Neil E. Bowles, PhD Jeffrey A. Towbin, MD Correspondence to Jeffrey A. Towbin, MD, Department of Pediatrics (Cardiology), Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030. E-mail Background result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including isolated left ventricular noncompaction (LVNC), as well as Barth syndrome

97. Euromit 4: Submitted Abstract A case of barth syndrome with massive 3methylglutaconic and 3-methylglutaricaciduria. EA Nikolaeva, IV Leontieva, V. Semenov, T. Chentsova, IA Sebeleva, http://www.gen.cam.ac.uk/euromit/abs/nikolaeva.html

A case of Barth syndrome with massive 3-methylglutaconic and 3-methylglutaric aciduria. E.A. Nikolaeva, I.V. Leontieva, V. Semenov, T. Chentsova, I.A. Sebeleva, L.Z. Kazantseva Institute of Paediatrics and Children Surgery, Moscow, Russia X-linked mitochondrial Barth's cardioskeletal myopathy with neutropenia has been delineated in 1983. We observed a boy 6 years old with this disease. The syndrome manifestations included: severe growth deficiency, mild retardation of psychomotoric development, myopathy, hypertrophic non-obstructive cardiomyopathy (echo enddiastolic septal wall thickness - 11,8 mm, the normal value is 5,5-6 mm), neutropenia ( <900/mm3), recurrent hypoglycaemia 2.0 mmol/l, hyperlactatacidemia 2.6 mmol/l (the normal value is 1.0-1.7). GC-MS analysis of organic acids revealed a marked increase of 3-methylglutaconic (two isomers), 3-methylglutaric acid excretion and moderate increase of 3-hydroxy-3-methylglutaric, fumaric, adipic acid excretion. Therapy with cytochrome C, coenzyme Q10, L- carnitine demonstrated significant clinical and biochemical efficacy. In 1,5 year echo enddiastolic septal wall thickness diminished to 6,5 mm (N). 3-Methylglutaconic, 3-methylglutaric acid excretion decreased 3 times. Excretion of 3-hydroxy-3-methylglutaric, fumaric, adipic acid disappeared. keywords: Barth syndrome, children, mitochondria

98. Search By Disease barth syndrome. 21, barth syndrome (BTHS). 22, Bartter syndrome, antenatalhypercalciuric form. 23, Bartter syndrome, antenatal, type 1 http://www.eddnal.com/directory/disease.php?letter=B&page=2

99. Quantitative And Compositional Study Of Cardiolipin In Platelets By Electrospray Neutrophils in barth syndrome (BTHS) avidly bind annexinV in the absence of Linoleic acid supplemention of barth syndrome fibroblasts restores http://www.clinchem.org/cgi/content/abstract/48/9/1390

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Clinical Chemistry This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (16) PubMed PubMed Citation Articles by Valianpour, F. Articles by van Gennip, A. H. Related Collections Molecular Diagnostics and Genetics Proteomics and Protein Markers Clinical Chemistry. Quantitative and Compositional Study of Cardiolipin in Platelets by Electrospray Ionization Mass Spectrometry: Application for the Identification of Barth Syndrome Patients Fredoen Valianpour Ronald J.A. Wanders Peter G. Barth Henk Overmars and Albert H. van Gennip a a Address correspondence to this author at: Laboratory of Genetic Metabolic Diseases, F0-233, PO Box 22700, 1100 DE Amsterdam, The Netherlands. Fax 31-20-6962596; e-mail Background: The concentration of cardiolipin (CL) in cultured skin fibroblasts is a useful indicator of Barth syndrome (BTHS;

100. The Human TAZ Gene Complements Mitochondrial Dysfunction In The Yeast Taz1{Delta barth syndrome is a genetic disorder that is caused by different mutations inthe TAZ gene G4.5. The yeast gene TAZ1 is highly homologous to human TAZ, http://www.jbc.org/cgi/content/abstract/279/43/44394

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Originally published In Press as doi:10.1074/jbc.M405479200 on August 10, 2004 J. Biol. Chem., Vol. 279, Issue 43, 44394-44399, October 22, 2004 This Article Full Text Full Text (PDF) All Versions of this Article: most recent Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Ma, L. Articles by Greenberg, M. L. The Human TAZ Gene Complements Mitochondrial Dysfunction in the Yeast Mutant IMPLICATIONS FOR BARTH SYNDROME Lining Ma Frederic M. Vaz Zhiming Gu Ronald J. A. Wanders , and Miriam L. Greenberg From the Department of Biological Sciences, Wayne State University, Detroit, Michigan, 48202 and the Departments of Clinical Chemistry and Pediatrics, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands

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