Zobrazeno 1 - 10
of 1 376
pro vyhledávání: '"M McNally"'
Autor:
Alexander B. Willis, Aaron S. Zelikovich, Robert Sufit, Senda Ajroud-Driss, Krista Vandenborne, Alexis R. Demonbreun, Abhinandan Batra, Glenn A. Walter, Elizabeth M. McNally
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Weekly Steroids in Muscular Dystrophy (WSiMD) was a pilot study to evaluate once weekly prednisone in patients with Limb Girdle and Becker muscular dystrophy (LGMD and BMD, respectively). At study endpoint, there were trends towards increase
Externí odkaz:
https://doaj.org/article/401459c9de5f42ac9a018c8123d4ba18
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 23 (2024)
Externí odkaz:
https://doaj.org/article/04fb0cc751b24d43a664097de3f0da91
Autor:
Michael R. Emami, Mark A. Brimble, Alejandro Espinoza, Jane Owens, Laurence O. Whiteley, Sandra Casinghino, Thomas A. Lanz, Philip K. Farahat, Matteo Pellegrini, Courtney S. Young, Paul G. Thomas, Elizabeth M. McNally, S. Armando Villalta, Stefan A. Schattgen, Melissa J. Spencer
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 4, Pp 101349- (2024)
Clinical trials for Duchenne muscular dystrophy (DMD) are assessing the therapeutic efficacy of systemically delivered adeno-associated virus (AAV) carrying a modified DMD transgene. High vector doses (>1E14 vg/kg) are needed to globally transduce sk
Externí odkaz:
https://doaj.org/article/fee20f3ef621479e9e7090e49aade946
Publikováno v:
AIP Advances, Vol 14, Iss 8, Pp 085316-085316-7 (2024)
High-entropy pyrochlore iridates A2Ir2O7 with multiple trivalent A cations were synthesized. The parent ternary A2Ir2O7 displays a variety of electronic phases depending on the size of A cations; Pr2Ir2O7 with a large A cation shows semimetallic beha
Externí odkaz:
https://doaj.org/article/f0223ad08ac141c4847deb54f07061e5
Autor:
Dominic E. Fullenkamp, Alexander B. Willis, Jodi L. Curtin, Ansel P. Amaral, Kyle T. Dittloff, Sloane I. Harris, Ivana A. Chychula, Cory W. Holgren, Paul W. Burridge, Brenda Russell, Alexis R. Demonbreun, Elizabeth M. McNally
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/b52a5eadd7514af8ba2316e6c7190c6b
Autor:
Joyce C. Ohiri, Lisa Dellefave‐Castillo, Garima Tomar, Lisa Wilsbacher, Lubna Choudhury, David Y. Barefield, Dominic Fullenkamp, Anthony M. Gacita, Tanner O. Monroe, Lorenzo Pesce, Malorie Blancard, Lauren Vaught, Alfred L. George, Alexis R. Demonbreun, Megan J. Puckelwartz, Elizabeth M. McNally
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 10 (2024)
Background Many cardiomyopathy‐associated FLNC pathogenic variants are heterozygous truncations, and FLNC pathogenic variants are associated with arrhythmias. Arrhythmia triggers in filaminopathy are incompletely understood. Methods and Results We
Externí odkaz:
https://doaj.org/article/f77896bb0287466494c3807c1849c7e0
Autor:
Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Meghan Faulkner, Heather M. MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variatio
Externí odkaz:
https://doaj.org/article/754c31b062b14f8fb5738e1f18f62142
Autor:
Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in
Externí odkaz:
https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160
Publikováno v:
Journal of Bone and Joint Infection, Vol 8, Pp 183-188 (2023)
Squamous cell carcinoma (SCC) is a rare but potentially life-threatening complication of chronic osteomyelitis. Whilst there have been over 100 cases of chronic osteomyelitis with malignant transformation reported in the literature between 1999 and
Externí odkaz:
https://doaj.org/article/56c431aacd984b91935f246baa1974c2
Autor:
Oluwarotimi O. Folorunso, Stephanie E. Brown, Jugajyoti Baruah, Theresa L. Harvey, Shekib A. Jami, Inna Radzishevsky, Herman Wolosker, James M. McNally, John A. Gray, Anju Vasudevan, Darrick T. Balu
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract The proper development and function of telencephalic GABAergic interneurons is critical for maintaining the excitation and inhibition (E/I) balance in cortical circuits. Glutamate contributes to cortical interneuron (CIN) development via N-m
Externí odkaz:
https://doaj.org/article/c1a3de421db14b62abea4c8f005bf011