Zobrazeno 1 - 10
of 426
pro vyhledávání: '"R., Findlay"'
Autor:
Andrew R. Findlay
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 10 (2024)
Externí odkaz:
https://doaj.org/article/eff115f3ac0a4e4db2e5b92cb5c11ad4
Autor:
Andrew R. Findlay, May M. Paing, Jil A. Daw, Meade Haller, Rocio Bengoechea, Sara K. Pittman, Shan Li, Feng Wang, Timothy M. Miller, Heather L. True, Tsui-Fen Chou, Conrad C. Weihl
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 937-948 (2023)
Dominant missense mutations in DNAJB6, a co-chaperone of HSP70, cause limb girdle muscular dystrophy (LGMD) D1. No treatments are currently available. Two isoforms exist, DNAJB6a and DNAJB6b, each with distinct localizations in muscle. Mutations resi
Externí odkaz:
https://doaj.org/article/98875bfcbb0241d7a450adbfdbc2b0b5
Autor:
Dominik André Nachtsheim, Mark Johnson, Tobias Schaffeld, Abbo van Neer, Peter T. Madsen, Charlotte R. Findlay, Laia Rojano-Doñate, Jonas Teilmann, Lonnie Mikkelsen, Johannes Baltzer, Andreas Ruser, Ursula Siebert, Joseph G. Schnitzler
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract The North Sea faces intense ship traffic owing to increasing human activities at sea. As harbour seals (Phoca vitulina) are abundant top predators in the North Sea, it is hypothesised that they experience repeated, high-amplitude vessel expo
Externí odkaz:
https://doaj.org/article/4d7355683f7c461b94c8dd2670809e91
Autor:
Andrew R. Findlay, Sarah E. Robinson, Stephanie Poelker, Michelle Seiffert, Rocio Bengoechea, Conrad C. Weihl
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 2, Pp 181-194 (2023)
ABSTRACT Objective To delineate the full phenotypic spectrum and characterize the natural history of limb girdle muscular dystrophy type D1 (LGMDD1). Methods We extracted age at clinical events of interest contributing to LGMDD1 disease burden via a
Externí odkaz:
https://doaj.org/article/df6f0a45ecd440df9b017670faeb1e15
Autor:
Ashlyn Parkhurst, Sabrina Z. Wang, Tyler R. Findlay, Kristen J. Malebranche, Arman Odabas, Jesse Alt, Micah J. Maxwell, Harpreet Kaur, Cody J. Peer, William D. Figg, Katherine E. Warren, Barbara S. Slusher, Charles G. Eberhart, Eric H. Raabe, Jeffrey A. Rubens
Publikováno v:
Cell Death and Disease, Vol 13, Iss 4, Pp 1-14 (2022)
Abstract Atypical teratoid/rhabdoid tumors (AT/RT) are the most common malignant brain tumors of infancy and have a dismal 4-year event-free survival (EFS) of 37%. We have previously shown that mTOR activation contributes to AT/RT’s aggressive grow
Externí odkaz:
https://doaj.org/article/10b90ebb273a45c786ac0a49aa2935b6
Clinical utility of anti‐cytosolic 5’‐nucleotidase 1A antibody in idiopathic inflammatory myopathies
Autor:
Chiseko Ikenaga, Andrew R. Findlay, Namita A. Goyal, Sarah Robinson, Jonathan Cauchi, Yessar Hussain, Leo H. Wang, Joshua C. Kershen, Brent A. Beson, Michael Wallendorf, Robert C. Bucelli, Tahseen Mozaffar, Alan Pestronk, Conrad C. Weihl
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 571-578 (2021)
Abstract Objective To define the clinicopathologic features and diagnostic utility associated with anti‐cytosolic 5′‐nucleotidase 1A (NT5C1A) antibody seropositivity in idiopathic inflammatory myopathies (IIMs). Methods Anti‐NT5C1A antibody s
Externí odkaz:
https://doaj.org/article/dbc8d0799a744d33a15998849a84520d
Autor:
Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert, Allison Peck, Nathan Peck, Nicholas E. Johnson, Jeffrey M. Statland, Conrad C. Weihl
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy, Paget’s disease of bone, and frontotemporal dementia also termed multisystem proteinopathy (MSP). The genotype-phenotype r
Externí odkaz:
https://doaj.org/article/a7d0cfa7337e4ee6a7193852a449c628
Autor:
Andrew R. Findlay, Conrad C. Weihl
Publikováno v:
CONTINUUM: Lifelong Learning in Neurology. 28:1800-1816
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8387fc1a3962237a0aa70fffc51f7cc4
https://doi.org/10.1212/con.0000000000001203
https://doi.org/10.1212/con.0000000000001203
Autor:
Andrew R. Findlay, Sarah E. Robinson, Stephanie Poelker, Michelle Seiffert, Rocio Bengoechea, Conrad C. Weihl
Publikováno v:
Annals of Clinical and Translational Neurology. 10:181-194
To delineate the full phenotypic spectrum and characterize the natural history of limb girdle muscular dystrophy type D1 (LGMDD1).We extracted age at clinical events of interest contributing to LGMDD1 disease burden via a systematic literature and ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c731bc9b501151a6c54b041868b3e171
https://doi.org/10.1002/acn3.51709
https://doi.org/10.1002/acn3.51709
Autor:
A. В. Verchovsky, F. A. J. Abernethy, M. Anand, S. J. Barber, R. Findlay, I. A. Franchi, R. C. Greenwood, M. M. Grady
Publikováno v:
Meteoritics & Planetary Science.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec67281b5600a11755e96cbf46926ccc
https://doi.org/10.1111/maps.13983
https://doi.org/10.1111/maps.13983