Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Summer Gibson"'
Autor:
Hans-Peter Müller, Agessandro Abrahao, Christian Beaulieu, Michael Benatar, Annie Dionne, Angela Genge, Richard Frayne, Simon J. Graham, Summer Gibson, Lawrence Korngut, Collin Luk, Robert C. Welsh, Lorne Zinman, Jan Kassubek, Sanjay Kalra
Publikováno v:
NeuroImage: Clinical, Vol 43, Iss , Pp 103633- (2024)
Objective: The corticospinal tract (CST) reveals progressive microstructural alterations in ALS measurable by DTI. The aim of this study was to evaluate fractional anisotropy (FA) along the CST as a longitudinal marker of disease progression in ALS.
Externí odkaz:
https://doaj.org/article/0e55aa75241840ef90189c0899f2aef4
Autor:
Joshua L. Bonkowsky, Spyridoula Tsetsou, Jerry A. Duran, L. Charles Murtaugh, Karla P. Figueroa, Kristi L. Russell, Mark B. Bromberg, Summer Gibson, Stefan M. Pulst, Matthew D. Keefe, Jonathan M. Downie, Lynn B. Jorde
Publikováno v:
Neurology. 97:e225-e235
ObjectiveTo identify novel disease associated loci for amyotrophic lateral sclerosis (ALS), we used sequencing data and performed in vitro and in vivo experiments to demonstrate pathogenicity of mutations identified inTP73.MethodsWe analyzed exome se
Autor:
Cody J. Steely, Mark B. Bromberg, Kristi L. Russell, Lynn B. Jorde, Karla P. Figueroa, Stefan M. Pulst, Summer Gibson, Jonathan M. Downie, L. Charles Murtaugh
ObjectiveTo better understand the pathology of amyotrophic lateral sclerosis, we used sequence data from patients seen at the University of Utah to identify novel disease-associated loci. We utilized both in vitro and in vivo studies to determine the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dedbcc85e85837bc4c0241f54f9c6ca6
https://doi.org/10.1101/2021.10.30.466517
https://doi.org/10.1101/2021.10.30.466517
Publikováno v:
Journal of clinical neuromuscular disease. 22(4)
We describe an individual with slowly progressive amyotrophic lateral sclerosis who decided to enter the Talisker Whisky Atlantic Challenge, a rowing event across the Atlantic Ocean, and completes it in 51 days in a 5-man boat.
Publikováno v:
Journal of the neurological sciences. 427
Objectives To describe prevalence rates of bowel, bladder, and sudomotor symptoms in patients with amyotrophic lateral sclerosis (ALS) in relation to disease onset and progression. Treatment strategies and efficacies were also assessed. Methods A pil
Publikováno v:
Neurology Genetics. 8:e670
In 2011, a pathogenic hexanucleotide repeat expansion in the C9ORF72 gene was discovered to be the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Before this, the C9ORF72 gene and its protein were unkn
Autor:
Nicolas Dupré, Hannah Briemberg, Christopher C. Hanstock, Sneha Chenji, Lorne Zinman, Abdullah Ishaque, Trevor Szekeres, Fred Tam, Fred Pattany, Annie Dionne, Alan H. Wilman, Muhammad Khan, Dean T. Eurich, Richard Frayne, Angela Genge, Derek Emery, Simon J. Graham, Miriam Garrido Clua, Christian Beaulieu, Peter Seres, Jeffrey T. Joseph, Dennell Krebs, Julia Keith, Cheryl R. McCreary, Summer Gibson, Christen Shoesmith, Sumit Das, Yee-Hong Yang, Yana Yunusova, Michael Benatar, Sanjay Kalra, Laura Barlow, Robert C. Welsh, Lawrence Korngut, Andre Cormier
BackgroundAmyotrophic lateral sclerosis (ALS) is a disabling and rapidly progressive neurodegenerative disorder. Increasing age is an important risk factor for developing ALS, thus the societal impact of this devastating disease will become more prof
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345d0b0c6608094722f6563e2179594b
Autor:
James F, Howard, Richard J, Nowak, Gil I, Wolfe, Miriam L, Freimer, Tuan H, Vu, John L, Hinton, Michael, Benatar, Petra W, Duda, James E, MacDougall, Ramin, Farzaneh-Far, Henry J, Kaminski, Richard, Barohn, Mazen, Dimachkie, Mamatha, Pasnoor, Constantine, Farmakidis, Tina, Liu, Samantha, Colgan, Michael G, Benatar, Tulio, Bertorini, Rekha, Pillai, Robert, Henegar, Mark, Bromberg, Summer, Gibson, Teresa, Janecki, Miriam, Freimer, Bakri, Elsheikh, Paige, Matisak, Angela, Genge, Amanda, Guidon, William, David, Ali A, Habib, Veena, Mathew, Tahseen, Mozaffar, William, Hewitt, Deborah, Barnett, Patricia, Sullivan, Doreen, Ho, Rebecca E, Traub, Manisha, Chopra, Radwa, Aly, Elham, Bayat, Mohammad, Abu-Rub, Shaida, Khan, Dale, Lange, Shara, Holzberg, Bhupendra, Khatri, Emily, Lindman, Tayo, Olapo, Lisa M, Sershon, Robert P, Lisak, Evanthia, Bernitsas, Kelly, Jia, Rabia, Malik, Tiffany D, Lewis-Collins, Michael, Nicolle, Aditi, Sharma, Bhaskar, Roy, Joan, Nye, Michael, Pulley, Alan, Berger, Yasmeen, Shabbir, Amit, Sachdev, Kimberly, Patterson, Zaeem, Siddiqi, Mark, Sivak, Joan, Bratton, George, Small, Anem, Kohli, Mary, Fetter, Tuan, Vu, Lucy, Lam, Brittany, Harvey, Nicholas, Silvestri, Kara, Patrick, Karen, Zakalik, James, MacDougall, Angela, Pontius, Michelle, Hoarty
Publikováno v:
JAMA neurology. 77(5)
Importance Many patients with generalized myasthenia gravis (gMG) have substantial clinical disability, persistent disease burden, and adverse effects attributable to chronic immunosuppression. Therefore, there is a significant need for targeted, wel
Publikováno v:
Clinical Neurology and Neurosurgery. 160:125-129
Objectives Patients with Amyotrophic Lateral Sclerosis (ALS) have expressed desire to become living organ donors but are unable to do so with current organ donation policies. Our objective is to assess ALS patient’s interest in organ donation, and
Autor:
Stefan M. Pulst, Spyridoula Tsetsou, Summer Gibson, Julie Feusier, Mark B. Bromberg, Karla P. Figueroa, Jonathan M. Downie, Lynn B. Jorde
Publikováno v:
Neurology. 89:226-233
Objective:To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)–associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity.Methods:Whole e