Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mario R Mérida"'
Autor:
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)
Externí odkaz:
https://doaj.org/article/a5c2a9a5ae1d4309b4ff3807c966e1af
Autor:
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We p
Externí odkaz:
https://doaj.org/article/e7147684d4fa49fb9e01318e1d1efef6
Autor:
Kenneth Silver, Joshua Magelby, Lynn Egan, Kathleen J. Sweadner, Sandra P. Reyna, Mario R. Mérida, Alfred L. George, Gene Andrasco, Vicky Platt, Dominic Poncelin, Kevin C. Ess, Eva Andermann, Mary L. Zupanc, Sharon Ciccodicola, Kathryn J. Swoboda, Suzanne D. DeBrosse, Marcio A Sotero de Menezes, Allison Brashear, Aga J. Lewelt, Laurie J. Ozelius, Frederick Andermann, Alice Belgrade, Hendrik Rosewich, Masayuki Sasaki, Louis Viollet, Matthew T. Sweney, Tara M. Newcomb
Publikováno v:
Neurology. Genetics, vol 3, iss 2
Neurology: Genetics
Neurology: Genetics
Author(s): Rosewich, Hendrik; Sweney, Matthew T; DeBrosse, Suzanne; Ess, Kevin; Ozelius, Laurie; Andermann, Eva; Andermann, Frederick; Andrasco, Gene; Belgrade, Alice; Brashear, Allison; Ciccodicola, Sharon; Egan, Lynn; George, Alfred L; Lewelt, Aga;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84fdd44712a90ed703b43fffc6bbb551
https://escholarship.org/uc/item/92d5n5bj
https://escholarship.org/uc/item/92d5n5bj
Autor:
Lee Hood, Eva Andermann, Mario R. Mérida, Bernie LaSalle, Yue Zhang, Terry D. Sanger, Harry T. Chugani, Mylynda Massart, Lynn B. Jorde, Mary E. Brunkow, Mary L. Zupanc, Gyula Acsadi, Abigail Collins, Richard L. Barbano, Mary D. King, Suzanne D. DeBrosse, Rachel B. Tennyson, Sandra P. Reyna, Frederick Andermann, Winnie Xin, Peter Uldall, Sarah R. Cheyette, Aga J. Lewelt, Francis Renault, Louis Viollet, Matthew T. Sweney, Gustavo Glusman, Kenneth Silver, Kelley J. Murphy, Chad D. Huff, Kathryn J. Swoboda, Tara M. Newcomb, Marcio A Sotero de Menezes, Robert S. Rust, Benjamin W. Nelson, Candida Brown, Jared C. Roach, Jennifer F. Friedman, Richard J. Leventer, Louis J. Ptáček, David J. Galas
Publikováno v:
PLoS ONE
PloS one, vol 10, iss 8
PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)
PloS one, vol 10, iss 8
PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b878fb4d9d8ec15ea6ff9b5580ae23
http://europepmc.org/articles/PMC4554723
http://europepmc.org/articles/PMC4554723
Autor:
Tara M. Newcomb, Mario R. Mérida, Mary E. Brunkow, Sandra P. Reyna, Louis Viollet, Matthew T. Sweney, Lee Hood, Peter Uldall, Jennifer Friedman, Gyula Acsadi, Francis Renault, Kelley J. Murphy, Bernie LaSalle, Sarah R. Cheyette, Chad D. Huff, Frederick Andermann, Mylynda Massart, Lynn B. Jorde, Kenneth Silver, Robert S. Rust, Terry D. Sanger, Marcio A Sotero de Menezes, David J. Galas, Rachel B. Tennyson, Gustavo Glusman, Louis J. Ptáček, Kathryn J. Swoboda, Abigail Collins, Eva Andermann, Candida Brown, Jared C. Roach, Mary D. King, Winnie Xin, Harry T. Chugani, Benjamin W. Nelson, Mary L. Zupanc, Richard J. Leventer, Yue Zhang, Suzanne D. DeBrosse, Aga J. Lewelt, Richard L. Barbano
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)
PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c6f0d12240070cfc8ef07f6d62aba28
http://europepmc.org/articles/PMC4440742
http://europepmc.org/articles/PMC4440742