Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Raiyan R, Khan"'
Autor:
Raiyan R. Khan, Rafael F. Guerrero, Ronald J. Wapner, Matthew W. Hahn, Anita Raja, Ansaf Salleb-Aouissi, William A. Grobman, Hyagriv Simhan, Robert M. Silver, Judith H. Chung, Uma M. Reddy, Predrag Radivojac, Itsik Pe’er, David M. Haas
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Adverse pregnancy outcomes (APOs) affect a large proportion of pregnancies and represent an important cause of morbidity and mortality worldwide. Yet the pathophysiology of APOs is poorly understood, limiting our ability to prevent and treat
Externí odkaz:
https://doaj.org/article/3d4e841d56df4a31ba7c73f2e48f8b88
Publikováno v:
Frontiers in Genetics, Vol 11 (2021)
Prior work in late-onset Alzheimer’s disease (LOAD) has resulted in discrepant findings as to whether recent consanguinity and outbred autozygosity are associated with LOAD risk. In the current study, we tested the association between consanguinity
Externí odkaz:
https://doaj.org/article/78795423ace647a9aaeddb1d891fbcc2
Autor:
Valerio Napolioni, Carolyn A. Fredericks, Yongha Kim, Divya Channappa, Raiyan R. Khan, Lily H. Kim, Faria Zafar, Julien Couthouis, Guido A. Davidzon, Elizabeth C. Mormino, Aaron D. Gitler, Thomas J. Montine, Birgitt Schüle, Michael D. Greicius
Publikováno v:
Biomedicines, Vol 10, Iss 1, p 160 (2022)
We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene. While this GBA variant is causative for Gaucher’s dise
Externí odkaz:
https://doaj.org/article/40074ee275614b8e86ad41dac1b0fb5f
Autor:
Michael C. Honigberg, Buu Truong, Raiyan R. Khan, Brenda Xiao, Laxmi Bhatta, Ha My T. Vy, Rafael F. Guerrero, Art Schuermans, Margaret Sunitha Selvaraj, Aniruddh P. Patel, Satoshi Koyama, So Mi Jemma Cho, Shamsudheen Karuthedath Vellarikkal, Mark Trinder, Sarah M. Urbut, Kathryn J. Gray, Ben M. Brumpton, Snehal Patil, Sebastian Zöllner, Mariah C. Antopia, Richa Saxena, Girish N. Nadkarni, Ron Do, Qi Yan, Itsik Pe’er, Shefali Setia Verma, Rajat M. Gupta, David M. Haas, Hilary C. Martin, David A. van Heel, Triin Laisk, Pradeep Natarajan
Publikováno v:
Nature Medicine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b4e3dedb6da4646ec700ae6280ee614
https://doi.org/10.1038/s41591-023-02374-9
https://doi.org/10.1038/s41591-023-02374-9
Autor:
Rafael F. Guerrero, Raiyan R. Khan, Ronald J. Wapner, Matthew W. Hahn, Anita Raja, Ansaf Salleb-Aouissi, William A. Grobman, Hyagriv Simhan, Robert Silver, Judith H. Chung, Uma M. Reddy, Predrag Radivojac, Itsik Pe’er, David M. Haas
BackgroundAdverse pregnancy outcomes (APOs) affect a large proportion of pregnancies and represent an important cause of morbidity and mortality worldwide. Yet, the pathophysiology of APOs is poorly understood, limiting our ability to prevent and tre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a16c43801b3b0a892e83c8030a85d9fc
https://doi.org/10.1101/2022.02.28.22271641
https://doi.org/10.1101/2022.02.28.22271641
Autor:
Valerio, Napolioni, Carolyn A, Fredericks, Yongha, Kim, Divya, Channappa, Raiyan R, Khan, Lily H, Kim, Faria, Zafar, Julien, Couthouis, Guido A, Davidzon, Elizabeth C, Mormino, Aaron D, Gitler, Thomas J, Montine, Birgitt, Schüle, Michael D, Greicius
Publikováno v:
Biomedicines
We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene. While this GBA variant is causative for Gaucher’s dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4313e43db6fc304434747bff21128eba
https://pubmed.ncbi.nlm.nih.gov/35052839
https://pubmed.ncbi.nlm.nih.gov/35052839
Autor:
Alisa Leshchenko, Raiyan R. Khan, Ansaf Salleb-Aouissi, Anastasia Dmitrienko, Cynthia Gyamfi-Bannerman, Ronald J. Wapner, Irene Tang, Anita Raja, Adam Lin, Daniel Mallia, Adam Catto, Owen Kunhardt, Nicolae Lari, Cassandra Marcussen, Itsik Pe'er, Anton Goretsky
In 2010, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) started the Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-be (nuMoM2b), a prospective cohort study of a racially/ethnically/geographica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a2df16a4c856cf16ea238985b6385c2
https://doi.org/10.1101/2021.08.24.21262142
https://doi.org/10.1101/2021.08.24.21262142
Autor:
Sarah J, Eger, Yann, Le Guen, Raiyan R, Khan, Jacob N, Hall, Gabriel, Kennedy, Greg, Zaharchuk, Julien, Couthouis, William S, Brooks, Dennis, Velakoulis, Valerio, Napolioni, Michaël E, Belloy, Clifton L, Dalgard, Elizabeth C, Mormino, Aaron D, Gitler, Michael D, Greicius
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Objectives The F386L PSEN1 variant has been reported in 1 Japanese family with limited clinical information. We aimed to prove that F386L is pathogenic by demonstrating that it segregates with early-onset Alzheimer disease (AD). Methods Eight individ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6fe9992f9f78fa823c99d0b48391022
https://pubmed.ncbi.nlm.nih.gov/34901437
https://pubmed.ncbi.nlm.nih.gov/34901437
Autor:
Sarah J. Eger, Yann Le Guen, Raiyan R. Khan, Jacob N. Hall, Gabriel Kennedy, Greg Zaharchuk, Julien Couthouis, William S. Brooks, Dennis Velakoulis, Valerio Napolioni, Michaël E. Belloy, Clifton L. Dalgard, Elizabeth C. Mormino, Aaron D. Gitler, Michael D. Greicius
ObjectivesThe F386L PSEN1 variant has been reported in 1 Japanese family with limited clinical information. We aimed to prove that F386L is pathogenic by demonstrating that it segregates with early-onset Alzheimer disease (AD).MethodsEight individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f75535785a650dca8d4727e45534804
http://hdl.handle.net/11581/455734
http://hdl.handle.net/11581/455734
Autor:
Jordan Quinn Behn, Lei Wang, Lisanne M. Jenkins, M.-Marsel Mesulam, Borna Bonakdarpour, Raiyan R. Khan, Emily Rogalski, Michael D. Greicius
Publikováno v:
Alzheimer's & Dementia. 16
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fef740ff428be285a966eecfcf33201f
https://doi.org/10.1002/alz.043956
https://doi.org/10.1002/alz.043956