Zobrazeno 1 - 10
of 166
pro vyhledávání: '"Michael F, Hammer"'
Publikováno v:
Biology Open, Vol 13, Iss 4 (2024)
Externí odkaz:
https://doaj.org/article/a78aba6b825b42bd8451cc4c181641ca
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0238121 (2020)
Variants implicated in childhood epilepsy have been identified in all four voltage-gated sodium channels that initiate action potentials in the central nervous system. Previous research has focused on the functional effects of particular variants wit
Externí odkaz:
https://doaj.org/article/d446e92b8d5540128825178e307e1f2c
Autor:
Michael F. Hammer, Yanling Pan, Medhane Cumbay, Manuela Pendziwiat, Zaid Afawi, Hadassah Goldberg‐Stern, Laurel Johnstone, Ingo Helbig, Theodore R. Cummins
Publikováno v:
Epilepsia. 63:1970-1980
Family members carrying the same SCN1A variant often exhibit differences in the clinical severity of epilepsy. This variable expressivity suggests that other factors aside from the primary sodium channel variant influence the clinical manifestation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee1d501bf4e947eac11ac03d5a80ac0a
https://doi.org/10.1111/epi.17296
https://doi.org/10.1111/epi.17296
Autor:
Dinesh Talwar, Michael F. Hammer
Publikováno v:
Pediatric Neurology. 122:76-83
Understanding the precise genetic -basis of disease is one of the critical developments in medicine in the twenty-first century. Genetic testing has revolutionized the diagnosis and treatment of neurological diseases in children. Whole-genome and who
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b377356a816f59b08cf18fd451a5815
https://doi.org/10.1016/j.pediatrneurol.2021.06.011
https://doi.org/10.1016/j.pediatrneurol.2021.06.011
Publikováno v:
Pediatric Neurology Briefs, Vol 31, Iss 3 (2017)
Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A a
Externí odkaz:
https://doaj.org/article/276594c99bb34c1994bd9bb2549ae2e6
Autor:
Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0180485 (2017)
Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among indivi
Externí odkaz:
https://doaj.org/article/e20997224a6b444f814621a4fa7480b9
Autor:
Mark Estacion, Janelle E. O'Brien, Allison Conravey, Michael F. Hammer, Stephen G. Waxman, Sulayman D. Dib-Hajj, Miriam H. Meisler
Publikováno v:
Neurobiology of Disease, Vol 69, Iss , Pp 117-123 (2014)
Rare de novo mutations of sodium channels are thought to be an important cause of sporadic epilepsy. The well established role of de novo mutations of sodium channel SCN1A in Dravet Syndrome supports this view, but the etiology of many cases of epile
Externí odkaz:
https://doaj.org/article/cb9e6a6bb2564fef8e644044862c49c5
Autor:
Joshua B. Hack, Kyle Horning, Denise M. Juroske Short, John M. Schreiber, Joseph C. Watkins, Michael F. Hammer
Publikováno v:
Neurology Genetics. 9:e200060
Background and ObjectivesPathogenic variants at the voltage-gated sodium channel gene,SCN8A, are associated with a wide spectrum of clinical disease outcomes. A critical challenge for neurologists is to determine whether patients carry gain-of-functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::55120f0239e9c4758f1e0b4877c18a95
https://doi.org/10.1212/nxg.0000000000200060
https://doi.org/10.1212/nxg.0000000000200060
Autor:
Peter J. Unmack, Mark Adams, Minami Sasaki, Scotte D. Wedderburn, Nick S. Whiterod, Michael F. Hammer, Samantha Thiele, Luciano B. Beheregaray
Publikováno v:
Aquatic Conservation: Marine and Freshwater Ecosystems. 30:1959-1974
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b85c9510e18db1cc5df529a0104d05d
https://doi.org/10.1002/aqc.3408
https://doi.org/10.1002/aqc.3408
Autor:
Manjari Deshmukh, Stephan C. Schuster, Jong Il Kim, Venkatesan Radha, Partha P. Majumder, Herawati Sudoyo, Somasekar Seshagiri, John C. Chambers, Kok-Gan Chan, R. Rand Allingham, Vladimir Kharkov, Arkasubhra Ghosh, Ravi Gupta, Changhoon Kim, Keith C. Cheng, Lukas Forer, Thiramsett Sattibabu, Qixin Bei, Jeremy Stinson, Murray P. Cox, J. Stephen Lansing, Joseph Guillory, Akshi Bassi, Purushothaman Natarajan, Vadim Stepanov, George Koki, Markus S. Schröder, Ramesh Menon, Santosh Gopi Krishna Gadde, Elena S. Gusareva, Nidhan K. Biswas, Analabha Basu, Christian Fuchsberger, Michael A. Hauser, Santiago-Turla, Sandhya Nair, Mahesh Pratapneni, Sivasankar Malaichamy, Sebastian Schoenherr, Jonathan S. Friedlaender, Seik-Soon Khor, Jeong-Sun Seo, Aakrosh Ratan, Vivek Gopalan, Jeffrey D. Wall, Madasamy Parani, Tatiana M. Karafet, Viswanathan Mohan, Rikky W. Purbojati, Steffen Durinck, Anjali Verma, Kushal Suryamohan, Vedam L. Ramprasad, Badrul Munir Md-Zain, Phalkek Sameer, Andrew S. Peterson, Jong-Yeon Shin, Hie Lim Kim, Eric Stawiski, Joyner T. George, Michael F. Hammer, Katsushi Tokunaga, Jiani Li, Khai C. Ang, Sam Santhosh, Jennifer Tom, Syed Qasim Mehdi, Belong Cho, Tushar Bhangale
Publikováno v:
Nature
The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world’s population. Population-specific referen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d70088be10a598188116037b3c558c9e
http://europepmc.org/articles/PMC7054211
http://europepmc.org/articles/PMC7054211