Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Allison Mazzella"'
Autor:
Allison Mazzella, Stephanie Asher, Isaac Elysee, Laura Hennessy, Anna Raper, Theodore Drivas, Staci Kallish
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101298- (2024)
Externí odkaz:
https://doaj.org/article/bcdb89fc90da42f5b806e2409f817139
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to
Externí odkaz:
https://doaj.org/article/8e361c2d2c604503b23a7fd26787ce94
Autor:
David P Waterman, Felix Zhou, Kevin Li, Cheng-Sheng Lee, Michael Tsabar, Vinay V Eapen, Allison Mazzella, James E Haber
Publikováno v:
PLoS Genetics, Vol 15, Iss 3, p e1008001 (2019)
We have used two different live-cell fluorescent protein markers to monitor the formation and localization of double-strand breaks (DSBs) in budding yeast. Using GFP derivatives of the Rad51 recombination protein or the Ddc2 checkpoint protein, we fi
Externí odkaz:
https://doaj.org/article/f7d1d2624d4b43669f8f1346f78bc08d
Autor:
Kristin J Krosschell, Sally Dunaway Young, Ilse Peterson, Mary Curry, Allison Mazzella, Jill Jarecki, Rosángel Cruz
Publikováno v:
Physical Therapy. 102
Disease-modifying therapies for spinal muscular atrophy (SMA) are rapidly changing the outlook for many individuals by substantially altering the clinical course, phenotypic expression, and functional outcomes. Physical therapists have played critica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2faad75472b2d6748bfe3a2fb6b993a1
https://doi.org/10.1093/ptj/pzac108
https://doi.org/10.1093/ptj/pzac108
Publikováno v:
PLOS ONE. 17:e0276756
Spinal muscular atrophy (SMA) is a progressive recessive genetic disease. Early identification is critical for achieving maximal treatment benefit. Survival motor neuron (SMN) 2 copy number may be a needed descriptor of disease severity than SMA type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40553bf39f8fc73833ea91ada7efe8cc
https://doi.org/10.1371/journal.pone.0276756
https://doi.org/10.1371/journal.pone.0276756