Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Sali M.K. Farhan"'
Autor:
Bryan M. Wong, Christopher Hudson, Emily Snook, Faryan Tayyari, Hyejung Jung, Malcolm A. Binns, Saba Samet, Richard W. Cheng, Carmen Balian, Efrem D. Mandelcorn, Edward Margolin, Elizabeth Finger, Sandra E. Black, David F. Tang-Wai, Lorne Zinman, Brian Tan, Wendy Lou, Mario Masellis, Agessandro Abrahao, Andrew Frank, Derek Beaton, Kelly M. Sunderland, Stephen R. Arnott, ONDRI Investigators, Maria Carmela Tartaglia, Wendy V. Hatch, Sabrina Adamo, Stephen Arnott, Rob Bartha, Courtney Berezuk, Alanna Black, Alisia Bonnick, David Breen, Don Brien, Susan Bronskill, Dennis Bulman, Leanne Casaubon, Ying Chen, Marvin Chum, Brian Coe, Ben Cornish, Jane Lawrence Dewar, Roger A. Dixon, Sherif El-Defrawy, Sali M.K. Farhan, Frederico Faria, Julia Fraser, Mahdi Ghani, Barry Greenberg, Hassan Haddad, Wendy Hatch, Melissa Holmes, Chris Hudson, Peter Kleinstiver, Donna Kwan, Elena Leontieva, Brian Levine, Ed Margolin, Connie Marras, Bill McIlroy, Paula McLaughlin, Manuel Montero Odasso, Doug Munoz, David Munoz, Nuwan Nanayakkara, JB Orange, Miracle Ozzoude, Alicia Peltsch, Pradeep Raamana, Joel Ramirez, Natalie Rashkovan, Angela Roberts, Yanina Sarquis Adamson, Christopher Scott, Michael Strong, Stephen Strothers, Sujeevini Sujanthan, Sean Symons, Athena Theyers, Angela Troyer, Abiramy Uthirakumaran, Karen Van Ooteghem, John Woulfe, Mojdeh Zamyadi, Guangyong (GY) Zou
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
PurposeTauopathy and transactive response DNA binding protein 43 (TDP-43) proteinopathy are associated with neurodegenerative diseases. These proteinopathies are difficult to detect in vivo. This study examined if spectral-domain optical coherence to
Externí odkaz:
https://doaj.org/article/e87ee494733c4014a43bb34084c5fb7d
Autor:
Allison A. Dilliott, Ahmad Al Nasser, Marwa Elnageeb, Jennifer Fifita, Lyndal Henden, Ingrid M. Keseler, Steven Lenz, Heather Marriott, Emily McCann, Maysen Mesaros, Sarah Opie-Martin, Emma Owens, Brooke Palus, Justyne Ross, Zhanjun Wang, Hannah White, Ammar Al-Chalabi, Peter M. Andersen, Michael Benatar, Ian Blair, Johnathan Cooper-Knock, Luke Drury, Elizabeth Harrington, Jeannine Heckmann, John Landers, Cristiane Moreno, Melissa Nel, Evadnie Rampersaud, Jennifer Roggenbuck, Guy Rouleau, Bryan Traynor, Marka van Blitterswijk, Wouter van Rheenen, Jan Veldink, Jochen Weishaupt, Matthew B. Harms, Sali M.K. Farhan
ObjectiveIn 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd66e22c16b4a459277c6c69317c1667
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-206369
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-206369
BackgroundWithin recent years, there has been a growing number of genes associated with amyotrophic lateral sclerosis (ALS), resulting in an increasing number of novel variants, particularly missense variants, many of which are of unknown clinical si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6869e07cee041ee87e79698d494cb1bc
https://doi.org/10.1101/2022.12.21.22283728
https://doi.org/10.1101/2022.12.21.22283728
Publikováno v:
Frontiers in neurology. 13
IntroductionTraumatic brain injury (TBI), resulting from a violent force that causes functional changes in the brain, is the foremost environmental risk factor for developing dementia. While previous studies have identified specific candidate genes t
Autor:
Jay P. Ross, Fulya Akçimen, Calwing Liao, Karina Kwan, Daniel E. Phillips, Zoe Schmilovich, Dan Spiegelman, Angela Genge, Nicolas Dupré, Patrick A. Dion, Sali M.K. Farhan, Guy A. Rouleau
The genetic etiology of ALS includes few rare, large-effect variants and potentially many common, small-effect variants per case. The genetic risk liability for ALS might require a threshold comprised of a certain amount of variants. Here, we tested
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e5e9c089515d4c08200a6ffa41b3e2a
https://doi.org/10.1101/2022.08.11.22278628
https://doi.org/10.1101/2022.08.11.22278628
Publikováno v:
PLOS ONE. 18:e0284541
SummaryMitochondrial dysfunction is implicated in a wide array of human diseases ranging from neurodegenerative disorders to cardiovascular defects. The coordinated localization and import of proteins into mitochondria are essential processes that en
Autor:
Jennifer H. Yang, Marisa W. Friederich, Katarzyna A. Ellsworth, Aliya Frederick, Emily Foreman, Denise Malicki, David Dimmock, Jerica Lenberg, Chitra Prasad, Andrea C. Yu, C. Anthony Rupar, Robert A. Hegele, Kandamurugu Manickam, Daniel C. Koboldt, Erin Crist, Samantha S. Choi, Sali M.K. Farhan, Helen Harvey, Shifteh Sattar, Natalya Karp, Terence Wong, Richard Haas, Johan L. K. Van Hove, Kristen Wigby
Publikováno v:
Human mutation, vol 43, iss 3
Hum Mutat
Hum Mutat
Iron-sulfur cluster proteins are involved in critical functions for gene expression regulation and mitochondrial bioenergetics including the oxidative phosphorylation system. The c.215G>A p.(Arg72Gln) variant in NFS1 has been previously reported to c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e645f94902b36d211d5a0a320945ef4f
https://escholarship.org/uc/item/68j1p63k
https://escholarship.org/uc/item/68j1p63k
Autor:
James D. Berry, Kaly A. Mueller, Kelly E. Glajch, Alexandra N. Mills, Sheena Chew, Sali M.K. Farhan, Eric J. Granucci, Ghazaleh Sadri-Vakili, Tiziana Petrozziello, James Chan
Publikováno v:
Muscle & Nerve. 62:272-283
Background The exact mechanisms underlying neuroinflammation and how they contribute to amyotrophic lateral sclerosis (ALS) pathogenesis remain unclear. One possibility is the secretion of neurotoxic factors, such as lipocalin-2 (LCN2), that lead to
Publikováno v:
Neurobiology of aging. 115
A recent study suggested an association between rare, non-synonymous variants in the gene encoding tumor protein p73 (TP73) and amyotrophic lateral sclerosis (ALS) - a progressive, fatal neurodegenerative disease. The original association was based o
Autor:
Simon Dujardin, Benjamin A Devlin, James D. Berry, Tara L. Spires-Jones, Patrick M. Dooley, M. Catarina Silva, Sali M.K. Farhan, Ellen Sapp, Derek H. Oakley, Andreas Neueder, Merit Cudkowicz, Alexandra N. Mills, Khashayar Vakili, Spencer E. Kim, Evan A. Bordt, Bradley T. Hyman, Abigail A. Obeng-Marnu, Christopher M. Henstridge, Marian DiFiglia, Stephen J. Haggarty, Ana C. Amaral, Ghazaleh Sadri-Vakili, Staci D. Bilbo, Tiziana Petrozziello
Publikováno v:
Molecular neurobiology. 59(1)
Understanding the mechanisms underlying amyotrophic lateral sclerosis (ALS) is crucial for the development of new therapies. Recent evidence suggest that tau may be involved in ALS pathogenesis. Here, we demonstrated that hyperphosphorylated tau (pTa