Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Michael R. Schwartz"'
Autor:
Artur V. Cideciyan, Samuel G. Jacobson, Allen C. Ho, Malgorzata Swider, Alexander Sumaroka, Alejandro J. Roman, Vivian Wu, Robert C. Russell, Iryna Viarbitskaya, Alexandra V. Garafalo, Michael R. Schwartz, Aniz Girach
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 32, Iss , Pp 101873- (2023)
Purpose: An intravitreally injected antisense oligonucleotide, sepofarsen, was designed to modulate splicing within retinas of patients with severe vision loss due to deep intronic c.2991 + 1655A > G variant in the CEP290 gene. A previous report show
Externí odkaz:
https://doaj.org/article/f39e007917e243f9b76ef7bb46b524bd
Autor:
Artur V. Cideciyan, PhD, Samuel G. Jacobson, MD, PhD, Allen C. Ho, MD, Arun K. Krishnan, OD, PhD, Alejandro J. Roman, MS, Alexandra V. Garafalo, MS, Vivian Wu, MS, Malgorzata Swider, PhD, Alexander Sumaroka, PhD, Caroline Van Cauwenbergh, PhD, Stephen R. Russell, MD, Arlene V. Drack, MD, Bart P. Leroy, MD, PhD, Michael R. Schwartz, MS, Aniz Girach, MD
Publikováno v:
Ophthalmology Science, Vol 2, Iss 2, Pp 100133- (2022)
Purpose: To understand consequences of reconstituting cone photoreceptor function in congenital binocular blindness resulting from mutations in the centrosomal protein 290 (CEP290) gene. Design: Phase 1b/2 open-label, multicenter, multiple-dose, dose
Externí odkaz:
https://doaj.org/article/0e7a0cea43364b59973a7b08801fbbad
Autor:
Arun kumar Krishnan, Malgorzata Swider, Alejandro J. Roman, Alexander Sumaroka, Artur V. Cideciyan, Aniz Girach, Michael R. Schwartz, Allen C. Ho, Samuel G. Jacobson, Alexandra V. Garafalo
Publikováno v:
Nat Med
Leber congenital amaurosis due to CEP290 ciliopathy is being explored by treatment with an antisense oligonucleotide (AON) sepofarsen. One individual who was part of a larger cohort (ClinicalTrials.gov no. NCT03140969) was studied for 15 months after
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255d770210e129ca7f8339b75c5ee1e9
https://doi.org/10.1038/s41591-021-01297-7
https://doi.org/10.1038/s41591-021-01297-7
Autor:
Michael R. Schwartz, Paul Oppold
Health-related quality of life is a comprehensive term to describe a person's experiences of health and illness. Quality of life (QOL) is a dynamic psychological construct encompassing interacting subjective and objective dimensions; thus, it is not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb74859b8cfa8777adab45911ac8c32d
https://doi.org/10.4018/978-1-6684-3542-7.ch038
https://doi.org/10.4018/978-1-6684-3542-7.ch038
Autor:
Patricia Biasutto, Alejandro J. Roman, Magali Taiel, Michael E. Cheetham, Julie De Zaeytijd, Artur V. Cideciyan, Ian C. Han, Michael R. Schwartz, Alexandra V. Garafalo, David M. Rodman, Maria D. Tome, Alexander Sumaroka, Arlene V. Drack, Wilma de Wit, Irina Balikova, Allen C. Ho, Stephen R. Russell, Fanny Nerinckx, Peter Adamson, Caroline Van Cauwenbergh, Wanda L. Pfeifer, Maria D. Hochstedler, Bart P. Leroy, Samuel G. Jacobson, Elliott H. Sohn, Gerard Platenburg, Jason Charng
Publikováno v:
Nature Medicine. 25:225-228
Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber congenital amaurosis carrying the c.2991+1655A>G allele in the ciliopathy gene centrosomal protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0deebfc45ec4119fb909d39e35b3b88
https://doi.org/10.1038/s41591-018-0295-0
https://doi.org/10.1038/s41591-018-0295-0
Autor:
Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart P. Leroy, Caroline Van Cauwenbergh, Allen C. Ho, Alina V. Dumitrescu, Ian C. Han, Mitchell Martin, Wanda L. Pfeifer, Elliott H. Sohn, Jean Walshire, Alexandra V. Garafalo, Arun K. Krishnan, Christian A. Powers, Alexander Sumaroka, Alejandro J. Roman, Eva Vanhonsebrouck, Eltanara Jones, Fanny Nerinckx, Julie De Zaeytijd, Rob W. J. Collin, Carel Hoyng, Peter Adamson, Michael E. Cheetham, Michael R. Schwartz, Wilhelmina den Hollander, Friedrich Asmus, Gerard Platenburg, David Rodman, Aniz Girach
Publikováno v:
Nature Medicine, 28, 1014-1021
NATURE MEDICINE
Nature Medicine, 28, 5, pp. 1014-1021
NATURE MEDICINE
Nature Medicine, 28, 5, pp. 1014-1021
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. Sepofarsen is an RNA antisense oligonucleotide targeting the c.2991+1655A>G variant in the CEP290 gene to treat LCA10. In this open-la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::547b93068a0384a77df09d77369a5f9a
https://pubmed.ncbi.nlm.nih.gov/35379979
https://pubmed.ncbi.nlm.nih.gov/35379979
Autor:
Erin W. Pukenas, Michael R. Schwartz
Publikováno v:
Anaesthesia for Uncommon and Emerging Procedures ISBN: 9783030647384
Congenital chest wall abnormalities are an array of malformations that are caused by inappropriate embryological formation of the rib cage. These abnormalities are often associated with other skeletal dysplasias. Chest wall anomalies may also be asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cabdde4957f068470408fd22e9a7b314
https://doi.org/10.1007/978-3-030-64739-1_15
https://doi.org/10.1007/978-3-030-64739-1_15
Publikováno v:
Anaesthesia for Uncommon and Emerging Procedures ISBN: 9783030647384
The Nuss procedure was introduced in 1998 as a less invasive surgical technique for correction of the chest wall deformity, pectus excavatum (PE). This chapter summarizes the clinical picture of PE, describes the Nuss procedure and explores the anest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a63ec76e0131bc363dcd84725528807d
https://doi.org/10.1007/978-3-030-64739-1_14
https://doi.org/10.1007/978-3-030-64739-1_14
Autor:
Michael R. Schwartz
Publikováno v:
Augmentation Mastopexy ISBN: 9783030482251
Breast asymmetry has been described as early as 1841 when Poland described the eponymous syndrome of chest wall deformity that can include musculoskeletal, breast and nipple malformations. While most patients have some asymmetry of the breast, there
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93d553714ceba063ea5e352d0c315e7d
https://doi.org/10.1007/978-3-030-48226-8_12
https://doi.org/10.1007/978-3-030-48226-8_12
Autor:
Alexandra V. Garafalo, Allen C. Ho, Alina V. Dumitrescu, David M. Rodman, Rob W.J. Collin, Carel B. Hoyng, Wanda L. Pfeifer, Mitchell Martin, Arun kumar Krishnan, Julie De Zaeytijd, Bart P. Leroy, Eva Vanhonsebrouck, Aniz Girach, Alejandro J. Roman, Stephen R. Russell, Wilhelmina den Hollander, Gerard Platenburg, Ian C. Han, Fanny Nerinckx, Arlene V. Drack, Christian A. Powers, Friedrich Asmus, Jean Walshire, Samuel G. Jacobson, Caroline Van Cauwenbergh, Elliott H. Sohn, Artur V. Cideciyan, Eltanara A Jones, Michael R. Schwartz, Michael E. Cheetham, Peter Adamson, Alexander Sumaroka
Publikováno v:
SSRN Electronic Journal.
Background: Sepofarsen is an RNA antisense oligonucleotide (AON) targeting the common c.2991+1655A>G mutation in the CEP290 gene to treat Leber congenital amaurosis type 10 (LCA10), a condition with severe childhood-onset vision loss or blindness. Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5c6599cf65265e47b2d40ae139cd64e
https://doi.org/10.2139/ssrn.3745122
https://doi.org/10.2139/ssrn.3745122