Zobrazeno 1 - 10
of 136
pro vyhledávání: '"Kevin A, Strauss"'
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1868-1878 (2024)
Abstract Objective Compare efficacy of gene therapy alone (monotherapy) or in combination with an SMN2 augmentation agent (dual therapy) for treatment of children at risk for spinal muscular atrophy type 1. Methods Eighteen newborns with biallelic SM
Externí odkaz:
https://doaj.org/article/4ddf28380abb4bf0a001a61c9438b3a9
Autor:
Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 1972-1984 (2023)
ABSTRACT Objective We created WiTNNess as a hybrid prospective/cross‐sectional observational study to simulate a clinical trial for infantile‐onset TNNT1 myopathy. Our aims were to identify populations for future trial enrollment, rehearse outcom
Externí odkaz:
https://doaj.org/article/aed2e23aa754450b8426dda69cb75b30
Publikováno v:
JCI Insight, Vol 8, Iss 9 (2023)
GM3 synthase deficiency (GM3SD) is an infantile-onset epileptic encephalopathy syndrome caused by biallelic loss-of-function mutations in ST3GAL5. Loss of ST3GAL5 activity in humans results in systemic ganglioside deficiency and severe neurological i
Externí odkaz:
https://doaj.org/article/5b03e07dc9d54d9d937a0b1ed0d84006
Autor:
Katie B. Williams, Michael Horst, Millie Young, Christine Pascua, Erik G. Puffenberger, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Alan R. Shuldiner, Samuel Gidding, Kevin A. Strauss, Devyani Chowdhury
Publikováno v:
BMC Cardiovascular Disorders, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Background Familial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoBR3500Q) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoBR3500Q heterozygotes and homozygotes, we aimed to cha
Externí odkaz:
https://doaj.org/article/9c49f8e572984b1ebc9b773d2df4750c
Autor:
Vikram K. Raghu, Steven F. Dobrowolski, Rakesh Sindhi, Kevin A. Strauss, George V. Mazariegos, Jerry Vockley, Kyle Soltys
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100866- (2022)
Classical phenylketonuria (PKU) presents a unique challenge for women of child-bearing age. In the context of pregnancy, poorly controlled hyperphenylalaninemia can result in a devastating constellation of outcomes for the baby referred to as the mat
Externí odkaz:
https://doaj.org/article/2bf363ef50404c388650e2ff2becc09c
Autor:
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Publikováno v:
Nature Medicine. 28:1381-1389
Abstract SPR1NT (NCT03505099) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life. Here, we report f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37038a2de2786e3da3e22751395b0bb6
https://doi.org/10.1038/s41591-022-01866-4
https://doi.org/10.1038/s41591-022-01866-4
Autor:
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Publikováno v:
Nature Medicine. 28:1390-1397
Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50df77c2956542a6122fa86803ff494d
https://doi.org/10.1038/s41591-022-01867-3
https://doi.org/10.1038/s41591-022-01867-3
Autor:
Francis Fonyuy Tukov, John W. Day, Richard S. Finkel, Kevin A. Strauss, Deepa H. Chand, Jerry R. Mendell, Aaron Kleyn, Sitra Tauscher-Wisniewski, Sandra P. Reyna, Eugenio Mercuri
Publikováno v:
Drug Safety
Introduction This is the first description of safety data for intravenous onasemnogene abeparvovec, the only approved systemically administered gene-replacement therapy for spinal muscular atrophy. Objective We comprehensively assessed the safety of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c09c1be05d90fe3cd7b71c4b730d326
http://europepmc.org/articles/PMC8473343
http://europepmc.org/articles/PMC8473343
Autor:
Vincent J Carson, Erik G Puffenberger, Lauren E Bowser, Karlla W Brigatti, Millie Young, Dominika Korulczyk, Ashlin S Rodrigues, KaLynn K Loeven, Kevin A Strauss
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0202104 (2018)
We correlate chromosome 5 haplotypes and SMN2 copy number with disease expression in 42 Mennonite and 14 Amish patients with spinal muscular atrophy (SMA). A single haplotype (A1) with 1 copy of SMN2 segregated among all Amish patients. SMN1 deletion
Externí odkaz:
https://doaj.org/article/b0b1f5ec37954fb1bcb69e96611e98eb
Autor:
Stephanie Chopko, Millie Young, Vincent J Carson, George V. Mazariegos, Jennifer Hailey, Cora M. Taylor, Barbara Haas-Givler, Karlla W. Brigatti, KaLynn K. Loeven, Erik G. Puffenberger, Adam D. Heaps, Keturah Beiler, Ashlin S. Rodrigues, Kyle Soltys, Emilie R. Muelly, Kevin A. Strauss, Lauren E. Bowser, Zachary Radcliff, Christine Hendrickson, Katie B. Williams, Diana A. Shellmer, D. Holmes Morton, Donna L. Robinson
Publikováno v:
Molecular Genetics and Metabolism. 129:193-206
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86af95984cf0f1393318580bd7a2c565
https://doi.org/10.1016/j.ymgme.2020.01.006
https://doi.org/10.1016/j.ymgme.2020.01.006