Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Phillip G. Zaworski"'
Autor:
Eike A Strathmann, Miriam Peters, Seyyedmohsen Hosseinibarkooie, Frank W Rigo, C Frank Bennett, Phillip G Zaworski, Karen S Chen, Michael Nothnagel, Brunhilde Wirth
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0203398 (2018)
OBJECTIVES:Spinal muscular atrophy (SMA) is a devastating motor neuron disorder caused by homozygous loss of the survival motor neuron 1 (SMN1) gene and insufficient functional SMN protein produced by the SMN2 copy gene. Additional genetic protective
Externí odkaz:
https://doaj.org/article/371689b6394549edac70c92ed9384ded
Autor:
Phillip G. Zaworski, Rachel Schwartz, Jeffrey Burr, Daniel Skutnik, Anna Mollin, Binit Kumar, Quintus Ngumah, Ellen Welch, Briana Johnson, Jana Narasimhan, Marla Weetall
Publikováno v:
Analytical biochemistry. 656
Paired box protein Pax-6 (oculothrombin) is a transcription factor that plays an important regulatory role in ocular, brain, and pancreatic development. Mutations of the PAX6 gene cause aniridia and Peters anomaly. Reduction in Pax-6 protein is also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a64094287d096cb1a8447ad68ae2a93
https://pubmed.ncbi.nlm.nih.gov/36058293
https://pubmed.ncbi.nlm.nih.gov/36058293
Autor:
Christian Czech, Wakana Tang, Teodorica Bugawan, Calvin Mano, Carsten Horn, Victor Alejandro Iglesias, Stefanie Fröhner, Phillip G Zaworski, Sergey Paushkin, Karen Chen, Thomas Kremer
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0139950 (2015)
Spinal muscular atrophy is caused by a functional deletion of SMN1 on Chromosome 5, which leads to a progressive loss of motor function in affected patients. SMA patients have at least one copy of a similar gene, SMN2, which produces functional SMN p
Externí odkaz:
https://doaj.org/article/53d4a02249404fa68e098254b9bca7fb
Autor:
Sergey Paushkin, Charlotte J. Sumner, Frank Rigo, Ian Waters, Pamela J. Snyder, Thomas W. Prior, Shannon J. Taylor, Constantin d’Ydewalle, Christine L. Hatem, Nikhil Gupte, Thomas O. Crawford, Daniel A. Norris, John B. Matson, Amal Dakka, Kathryn J. Swoboda, C. Frank Bennett, Phillip G. Zaworski, Nikolai Naryshkin, Vijayalakshmi Gabbeta, Stephanie Klein, Daniel M. Ramos, David Valdivia
Publikováno v:
Journal of Clinical Investigation. 129:4817-4831
BACKGROUND: Spinal muscular atrophy (SMA) is caused by deficient expression of survival motor neuron (SMN) protein. New SMN-enhancing therapeutics are associated with variable clinical benefits. Limited knowledge of baseline and drug-induced SMN leve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b3e5c1e2561445e157362017e51ffe6
https://doi.org/10.1172/jci124120
https://doi.org/10.1172/jci124120
Autor:
Jia Li, Tom R Geisbush, William D Arnold, Glenn D Rosen, Phillip G Zaworski, Seward B Rutkove
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e111428 (2014)
OBJECTIVES:There is a need for better, noninvasive quantitative biomarkers for assessing the rate of progression and possible response to therapy in spinal muscular atrophy (SMA). In this study, we compared three electrophysiological measures: compou
Externí odkaz:
https://doaj.org/article/b447b257d2d344159e88b398c2f64ddd
Autor:
Ronald D. Klein, Phillip G. Zaworski
Publikováno v:
Yeast Strain Selection ISBN: 9781003066415
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01ebe11f2c966d9d05ebb9315b619689
https://doi.org/10.1201/9781003066415-9
https://doi.org/10.1201/9781003066415-9
Autor:
Amy Bartlett, Arthur H.M. Burghes, Nancy L. Kuntz, Richard Shell, Michelle McGovern, Jon W. Yankey, Allison Kingsley, Julie A. Parsons, Kristin J. Krosschell, Diana Castro, Anne M. Connolly, Susan T. Iannaccone, Kathryn J. Swoboda, John T. Kissel, D. Elizabeth McNeil, Claudia A. Chiriboga, Edward M. Kaye, Perry B. Shieh, Basil T. Darras, W. David Arnold, Stephen J. Kolb, Ai Sakonju, W. Bryan Burnette, Christopher S. Coffey, Merit Cudkowicz, Phillip G. Zaworski, Xueqian Wang, Seward B. Rutkove, Mathula Thangarajh, Erika Finanger, Klaus Werner, Richard S. Finkel, Craig M. McDonald, Thomas W. Prior, Vicki L. McGovern, Sandra P. Reyna, Samantha R. Renusch
Publikováno v:
Annals of Neurology. 82:883-891
OBJECTIVE Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2. Clinical trials in this population require an understanding of disease progression and identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::133f92cb219b5ce553bb8c1a7db6cfc0
https://doi.org/10.1002/ana.25101
https://doi.org/10.1002/ana.25101
Autor:
Alec J. Johnstone, Salomé Da Silva Duarte Lepez, Eric J. Eichelberger, Reid Garner, Rebekah Poxson, Rachel Schwartz, Victoria L. Stevens, Christiano R. R. Alves, Kathryn J. Swoboda, Phillip G. Zaworski, Ren Zhang, Vivian Yi
Publikováno v:
Muscle & Nerve
Introduction We sought to determine whether survival motor neuron (SMN) protein blood levels correlate with denervation and SMN2 copies in spinal muscular atrophy (SMA). Methods Using a mixed‐effect model, we tested associations between SMN levels,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5b1cba63de3d9a09449d652513bde9e
https://pubmed.ncbi.nlm.nih.gov/32696479
https://pubmed.ncbi.nlm.nih.gov/32696479
Autor:
Amy Bartlett, Richard Shell, Michelle McGovern, Diana Castro, Jon W. Yankey, John T. Kissel, Thomas W. Prior, Anne M. Connolly, Nancy L. Kuntz, Kristin J. Krosschell, Vicki L. McGovern, Seward B. Rutkove, Mathula Thangarajh, Edward M. Kaye, Susan T. Iannaccone, D. Elizabeth McNeil, Claudia A. Chiriboga, Stephen J. Kolb, Phillip G. Zaworski, Kathryn J. Swoboda, Allison Kingsley, Julie A. Parsons, Ai Sakonju, W. Bryan Burnette, Merit Cudkowicz, Erika Finanger, Xueqian Wang, Basil T. Darras, W. David Arnold, Christopher S. Coffey, Craig M. McDonald, Sandra P. Reyna, Arthur H. M. Burghes, Samantha R. Renusch, Klaus Werner, Richard S. Finkel, Perry B. Shieh
Publikováno v:
Annals of Clinical and Translational Neurology
Objective This study prospectively assessed putative promising biomarkers for use in assessing infants with spinal muscular atrophy (SMA). Methods This prospective, multi-center natural history study targeted the enrollment of SMA infants and healthy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2bad07df4e487fcd0eda03cca050ca8
http://europepmc.org/articles/PMC4748311
http://europepmc.org/articles/PMC4748311
Autor:
Michael Nothnagel, Frank Rigo, Brunhilde Wirth, Miriam Peters, C. Frank Bennett, Seyyedmohsen Hosseinibarkooie, Karen S. Chen, Eike A. Strathmann, Phillip G. Zaworski
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 9, p e0203398 (2018)
PLoS ONE, Vol 13, Iss 9, p e0203398 (2018)
Objectives: Spinal muscular atrophy (SMA) is a devastating motor neuron disorder caused by homozygous loss of the survival motor neuron 1 (SMN1) gene and insufficient functional SMN protein produced by the SMN2 copy gene. Additional genetic protectiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de0f75bc1964d0147e325bac77652a6e
http://europepmc.org/articles/PMC6126849
http://europepmc.org/articles/PMC6126849