Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Brian N Harding"'
Autor:
Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G Sweeney, Cathy E Woodward, Zane Jaunmuktane, Janice L Holton, Thomas S Jacques, Brian N Harding, Carl Fratter, Michael G Hanna, Shamima Rahman
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0145500 (2016)
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism
Externí odkaz:
https://doaj.org/article/ec6375b1818241cab0f1ce4c29b4eb0c
Autor:
Lea F. Surrey, Adam C. Resnick, Anna Maria Buccoliero, Marilyn M. Li, Joshua Straka, Lorenzo Genitori, Payal Jain, Xiaonan Zhao, Angela J. Waanders, Bo Zhang, Brian N Harding, Phillip B Storm, Mariarita Santi
Publikováno v:
Journal of neuropathology and experimental neurology. 78(12)
Dysembryoplastic neuroepithelial tumors (DNT) lacking key diagnostic criteria are challenging to diagnose and sometimes fall into the broader category of mixed neuronal-glial tumors (MNGT) or the recently described polymorphous low-grade neuroepithel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6393551b2e2ad2cab1f9b727a3d80a
https://pubmed.ncbi.nlm.nih.gov/31617914
https://pubmed.ncbi.nlm.nih.gov/31617914
A definitive, clinically oriented guide to the pathology of genetics of developmental neuropathology Developmental neuropathology relates to the wide range of disorders affecting the developing brain or pre- and post-natal life, with emphasis on the
Autor:
Sanjeev, Rajakulendran, Robert D S, Pitceathly, Jan-Willem, Taanman, Harry, Costello, Mary G, Sweeney, Cathy E, Woodward, Zane, Jaunmuktane, Janice L, Holton, Thomas S, Jacques, Brian N, Harding, Carl, Fratter, Michael G, Hanna, Shamima, Rahman
Publikováno v:
PLoS ONE
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b142d20d3b94ed58ad629ceb2ac27878
https://pubmed.ncbi.nlm.nih.gov/26735972
https://pubmed.ncbi.nlm.nih.gov/26735972
Autor:
Jacquelyn J, Roth, Mariarita, Santi, Avrum N, Pollock, Brian N, Harding, Lucy B, Rorke-Adams, Laura S, Tooke, Jaclyn A, Biegel
Publikováno v:
Brain pathology (Zurich, Switzerland). 25(2)
The majority of pediatric low-grade gliomas (LGGs) are characterized by constitutive activation of the mitogen-activated protein kinase (MAPK) pathway through various mechanisms including BRAF mutations, inactivation of NF1, and KIAA1549-BRAF and FAM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b78bdbf133c5ffec2cbb038e1a79327e
https://pubmed.ncbi.nlm.nih.gov/25040262
https://pubmed.ncbi.nlm.nih.gov/25040262
Autor:
Féréchté Encha-Razavi, Rebecca Folkerth, Brian N. Harding, Harry V. Vinters, Jeffrey A. Golden
This chapter describes and illustrates the changes of the CNS in congenital malformations and perinatal diseases; it also provides insights into the genetic abnormalities associated with these conditions. Congenital malformations include neurulation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b7c6188f2615309e7e19f7cab6499c6
https://doi.org/10.1093/med/9780199929054.003.0011
https://doi.org/10.1093/med/9780199929054.003.0011
Autor:
David Ellison, Seth Love, Leila Chimelli, Brian N. Harding, James S. Lowe, Harry V. Vinters, Sebastian Brandner, William H. Yong
Publikováno v:
Neuropathology ISBN: 9780723435150
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c26deeeecfa4f476906d1f713db64f48
https://doi.org/10.1016/b978-0-7234-3515-0.00046-5
https://doi.org/10.1016/b978-0-7234-3515-0.00046-5