Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Stephanie, Fradette"'
Autor:
Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guolin Zhao, John Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J. Sumner
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 932-944 (2019)
Abstract Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were measured using the ProteinSimple® platform in plasma samples from infants with S
Externí odkaz:
https://doaj.org/article/3ee8e34dbd374d5497e7d0c04fdbd40a
Autor:
Timothy M, Miller, Merit E, Cudkowicz, Angela, Genge, Pamela J, Shaw, Gen, Sobue, Robert C, Bucelli, Adriano, Chiò, Philip, Van Damme, Albert C, Ludolph, Jonathan D, Glass, Jinsy A, Andrews, Suma, Babu, Michael, Benatar, Christopher J, McDermott, Thos, Cochrane, Sowmya, Chary, Sheena, Chew, Han, Zhu, Fan, Wu, Ivan, Nestorov, Danielle, Graham, Peng, Sun, Manjit, McNeill, Laura, Fanning, Toby A, Ferguson, Stephanie, Fradette, Cathy, Zhong
Publikováno v:
The New England journal of medicine. 387(12)
The intrathecally administered antisense oligonucleotide tofersen reduces synthesis of the superoxide dismutase 1 (SOD1) protein and is being studied in patients with amyotrophic lateral sclerosis (ALS) associated with mutations inIn this phase 3 tri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::89004e371f9bd6ad00f5d166e8e4e5da
https://pubmed.ncbi.nlm.nih.gov/36370693
https://pubmed.ncbi.nlm.nih.gov/36370693
Autor:
Robert C. Bucelli, Manjit McNeill, Shafeeq Ladha, Angela Genge, Stephanie Fradette, Ivan Nestorov, John Ravits, Philip Van Damme, Roger Lane, Christopher J McDermott, Jonathan Glass, Merit Cudkowicz, Laura Fanning, C. Frank Bennett, Heiko Runz, Ih Chang, Hani Houshyar, Toby A. Ferguson, Alfred Sandrock, Alan Pestronk, Danielle Graham, Timothy M. Miller, Randall G. Trudell, Nazem Atassi, Peter M. Andersen, François Salachas, Nicholas J. Maragakis, Albert L. Ludolph, Pamela J. Shaw, Lorne Zinman, Alexander McCampbell
Publikováno v:
New England Journal of Medicine. 383:109-119
Background Tofersen is an antisense oligonucleotide that mediates the degradation of superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis. Intrathecal administratio...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd89d37b574703a54dc8fa55df6264a4
https://doi.org/10.1056/nejmoa2003715
https://doi.org/10.1056/nejmoa2003715
Autor:
Stephanie Cosentino, Jeremy M. Shefner, Anne-Laure Grignon, Joanne Wuu, Richard S. Finkel, Michael P. McDermott, Jalayne J. Arias, Michael Benatar, Howard J. Rosen, Ronald C. Petersen, Murray Grossman, Ammar Al-Chalabi, Martin R Turner, Sharon Abrahams, Bradley F. Boeve, Caroline A. McHutchison, Peter M. Andersen, Volkan Granit, Ronald B. Postuma, Christopher A. Ross, Stephanie Fradette, Christine Stanislaw, Jonathan D. Rohrer, Corey T. McMillan
Publikováno v:
2022, ' Preventing amyotrophic lateral sclerosis : iInsights from pre-symptomatic neurodegenerative diseases ', Brain, vol. 145, no. 1, awab404, pp. 27–44 . https://doi.org/10.1093/brain/awab404
Brain : a journal of neurology, vol 145, iss 1
Brain : a journal of neurology, vol 145, iss 1
Significant progress has been made in understanding the pre-symptomatic phase of amyotrophic lateral sclerosis. While much is still unknown, advances in other neurodegenerative diseases offer valuable insights. Indeed, it is increasingly clear that t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bda0ec93279ff90bb7f8c25d7fcf302
https://hdl.handle.net/20.500.11820/dfa910d4-0725-414a-86bb-ca841d1bdaf3
https://hdl.handle.net/20.500.11820/dfa910d4-0725-414a-86bb-ca841d1bdaf3
Autor:
Michael Benatar, Joanne Wuu, Peter M. Andersen, Robert C. Bucelli, Jinsy A. Andrews, Markus Otto, Nita A. Farahany, Elizabeth A. Harrington, Weiping Chen, Adele A. Mitchell, Toby Ferguson, Sheena Chew, Liz Gedney, Sue Oakley, Jeong Heo, Sowmya Chary, Laura Fanning, Danielle Graham, Peng Sun, Yingying Liu, Janice Wong, Stephanie Fradette
Despite extensive research, amyotrophic lateral sclerosis (ALS) remains a progressive and invariably fatal neurodegenerative disease. Limited knowledge of the underlying causes of ALS has made it difficult to target upstream biological mechanisms of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2141520e84778c486c10046b7ad1a18c
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-200431
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-200431
Autor:
Nancy L. Kuntz, Julie A. Parsons, Russell J. Butterfield, Francy Shu, Sandra P. Reyna, Janbernd Kirschner, Sarah Gheuens, Marco Petrillo, Darryl C. De Vivo, Kathryn J. Swoboda, Christopher Stebbins, Wildon Farwell, Wuh-Liang Hwu, Haluk Topaloglu, Enrico Bertini, Kristina Johnson, Richard Foster, Douglas A. Kerr, Valeria A. Sansone, Monique M. Ryan, Tawfeg Ben-Omran, Stephanie Fradette, Ishir Bhan, Thomas O. Crawford, Richard S. Finkel, Alfred Sandrock, John F. Staropoli, Yuh-Jyh Jong, Gabriel Braley
Publikováno v:
Neuromuscular Disorders
Highlights • NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA. • All infants were ≥25 months old, and alive without permanent ventilation. • All infants achieved independent sitting and 88% (22/25) were walki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009a698a6201cae9a42c7310edf09bf6
http://europepmc.org/articles/PMC7127286
http://europepmc.org/articles/PMC7127286
Autor:
Eugenio Mercuri, Wildon Farwell, Darryl C. De Vivo, Eduardo F. Tizzano, Richard S. Finkel, John F. Staropoli, Christopher Stebbins, Thomas O. Crawford, Guolin Zhao, Maryam Oskoui, Charlotte J. Sumner, Marco Petrillo, Francesco Muntoni, Alexander McCampbell, Basil T. Darras, Stephanie Fradette, Monique M. Ryan
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 932-944 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were measured using the ProteinSimple® platform in plasma samples from infants with SMA enroll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a7bdc0b04bf300bd3dd57b4ad18eea
https://doaj.org/article/3ee8e34dbd374d5497e7d0c04fdbd40a
https://doaj.org/article/3ee8e34dbd374d5497e7d0c04fdbd40a
Autor:
Michael Benatar, Joanne Wuu, Peter M. Andersen, Robert C. Bucelli, Jinsy A. Andrews, Markus Otto, Nita A. Farahany, Elizabeth A. Harrington, Weiping Chen, Adele A. Mitchell, Toby Ferguson, Sheena Chew, Liz Gedney, Sue Oakley, Jeong Heo, Sowmya Chary, Laura Fanning, Danielle Graham, Peng Sun, Yingying Liu, Janice Wong, Stephanie Fradette
Publikováno v:
Neurotherapeutics. 19:1686-1686
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8208669deb306900ce04a409164f191
https://doi.org/10.1007/s13311-022-01286-9
https://doi.org/10.1007/s13311-022-01286-9
Autor:
Pamela Shaw, Timothy Miller, Merit Cudkowicz, Angela Genge, Gen Sobue, Ivan Nestorov, Dan- ielle Graham, Laura Fanning, Stephanie Fradette, Manjit McNeill
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:e2.208
VALOR was a Phase 3, placebo-controlled trial to evaluate the clinical efficacy and safety of tofersen in adults with ALS and a confirmed SOD1 mutation (SOD1-ALS). Participants were randomised 2:1 to tofersen 100 mg (3 doses ~2 weeks apart, then 5 do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d80c895c376c6503a9ad534f1bfb097d
https://doi.org/10.1136/jnnp-2022-abn2.6
https://doi.org/10.1136/jnnp-2022-abn2.6
Autor:
Timothy, Miller, Merit, Cudkowicz, Pamela J, Shaw, Peter M, Andersen, Nazem, Atassi, Robert C, Bucelli, Angela, Genge, Jonathan, Glass, Shafeeq, Ladha, Albert L, Ludolph, Nicholas J, Maragakis, Christopher J, McDermott, Alan, Pestronk, John, Ravits, François, Salachas, Randall, Trudell, Philip, Van Damme, Lorne, Zinman, C Frank, Bennett, Roger, Lane, Alfred, Sandrock, Heiko, Runz, Danielle, Graham, Hani, Houshyar, Alexander, McCampbell, Ivan, Nestorov, Ih, Chang, Manjit, McNeill, Laura, Fanning, Stephanie, Fradette, Toby A, Ferguson
Publikováno v:
The New England journal of medicine. 383(2)
Tofersen is an antisense oligonucleotide that mediates the degradation of superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis. Intrathecal administration of tofersen is being studied for the treatment of amyotrophic lateral s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60508a8fa4e2c3ceebe60cab1d91953b
https://pubmed.ncbi.nlm.nih.gov/32704069
https://pubmed.ncbi.nlm.nih.gov/32704069