Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Gail, Chuck"'
Autor:
Francis X. McCormack, John J. Bissler, Judy A. Bean, Jennifer Leonard, Shelia Salisbury, Tal Laor, Jean M. Elwing, Gail Chuck, Alan S. Brody, Vincent J. Schmithorst, David Neal Franz, Lisa R. Young
Publikováno v:
New England Journal of Medicine. 358:140-151
Angiomyolipomas in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis are associated with mutations in tuberous sclerosis genes resulting in constitutive activation of the mammalian target of rapamycin (mTOR). The drug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d842da10e6cb2fd0c7deafafddf057
https://doi.org/10.1056/nejmoa063564
https://doi.org/10.1056/nejmoa063564
Autor:
Jennifer Leonard, David Neal Franz, Gail Chuck, George Thomas, Gopalan Sethuraman, Cynthia Tudor, Argirios Dinopoulos, Marguerite M. Caré, Kerry R. Crone
Publikováno v:
Annals of Neurology. 59:490-498
Objective Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in multiple organs. Five to 15% of affected individuals display subependymal giant cell astrocytomas, which can lead to substantial neurolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7cee65fad710922e5a1d568d5bd9dcf
https://doi.org/10.1002/ana.20784
https://doi.org/10.1002/ana.20784
Publikováno v:
Journal of Child Neurology. 21:53-57
Seizures are a common neurologic symptom of tuberous sclerosis complex. The use of levetiracetam as adjunctive antiepileptic therapy was assessed in 20 patients with tuberous sclerosis complex aged 2 to 19 years. In this retrospective evaluation, 40%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b4ac6944980b912852243e040c246b
https://doi.org/10.1177/08830738060210011201
https://doi.org/10.1177/08830738060210011201
Autor:
Ton J. deGrauw, Gajja S. Salomons, Kim M. Cecil, Amy Newmeyer, Cornelis Jakobs, Mark B. Schapiro, Gail Chuck
Publikováno v:
Neuropediatrics. 33:232-238
Background Two inborn errors of metabolism of creatine synthesis as well as the X-linked creatine transporter (SLC6A8) deficiency have been recognized. This report describes the features of five identified male patients and their female relatives who
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8699534a235c49d816e308e05fe6a928
https://doi.org/10.1055/s-2002-36743
https://doi.org/10.1055/s-2002-36743
Autor:
Gail Chuck, Paul Steele, Amadeo J. Pesce, Michael V. Miles, Antonius J. DeGrauw, Laura Schroer, Peter H. Tang
Publikováno v:
Clinica Chimica Acta. 318:127-131
Background : The proportion of reduced coenzyme Q 10 (Q 10 H 2 ) in total coenzyme Q 10 (TQ 10 ), referred to as the Q 10 H 2 :TQ 10 ratio, may be used as a possible marker of in vivo oxidative stress. However, the ranges for Q 10 H 2 :TQ 10 ratio fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3d1357e5c7835d51d32d1b210502d9f
https://doi.org/10.1016/s0009-8981(02)00003-7
https://doi.org/10.1016/s0009-8981(02)00003-7
Autor:
Michael A. Ralston, Harald H H Göring, Peter Hug, John J. Bissler, Monica Tsoras, Catherine A. McGraw, Esther Tombragel, George Hug, James Schlotman, Gail Chuck
Publikováno v:
Laboratory Investigation. 82:335-344
Mutations in the Xq28 gene G4.5 lead to dilated cardiomyopathy (DCM). Differential splicing of G4.5 results in a family of proteins called "tafazzins" with homology to acyltransferases. These enzymes assemble fatty acids into membrane lipids. We sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::218871c3717e8b19957a8856b01d0281
https://doi.org/10.1038/labinvest.3780427
https://doi.org/10.1038/labinvest.3780427
Autor:
Francis X. McCormack, David Neal Franz, Gail Chuck, Alan S. Brody, Jennifer Leonard, Gopalan Sethuraman, Sandra L. Dabora, Cristopher A. Meyer, David J. Kwiatkowski, Thomas V. Colby
Publikováno v:
Scopus-Elsevier
Lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH) produce cystic and nodular disease, respectively, in the lungs of patients with tuberous sclerosis. The objective of this study was to prospectively characterize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc06d9c0b5d7281ed261233beb02b9a9
https://doi.org/10.1164/ajrccm.164.4.2011025
https://doi.org/10.1164/ajrccm.164.4.2011025
Autor:
Nanda M. Verhoeven, Gail Chuck, Kim M. Cecil, Ton J. deGrauw, William S. Ball, Cornelis Jakobs, Brenda Wong, Gajja S. Salomons
Publikováno v:
Annals of Neurology. 49:401-404
Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported cases demonstrate partial reversibility of neurologic sym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88bf973486dbd93c9201920f4447dca8
https://doi.org/10.1002/ana.79
https://doi.org/10.1002/ana.79
Publikováno v:
American Journal of Medical Genetics. 64:531-535
Hunter syndrome (mucopolysaccharidosis type II, or MPS II) results from a deficiency of iduronate-2-sulfatase (IDS) activity due to a primary genetic defect in the X-chromosomal iduronate-2-sulfatase gene. We have studied a 10-year-old male, diagnose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5138835e457709ce293709fb1e5dea6
https://doi.org/10.1002/(sici)1096-8628(19960906)64:4<531::aid-ajmg1>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960906)64:4<531::aid-ajmg1>3.0.co
Autor:
Yukisato Ishida, Ton J. deGrauw, Kim M. Cecil, Joseph F. Clark, Melissa A. Lyons, Gail J. Pyne-Geithman, Gail Chuck
Publikováno v:
Molecular and cellular biochemistry. 262(1-2)
To date, more than seven families have been reported who carry a mutation in the X-linked creatine-transporter (CrT) gene. The resulting lack of creatine in the brain is associated with mental retardation, severe expressive language disorder, mild ep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffc02bdcd4c15dedec625a34ed72ceb9
https://pubmed.ncbi.nlm.nih.gov/15532707
https://pubmed.ncbi.nlm.nih.gov/15532707