Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Candida Brown"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 129-132 (2014)
The pathophysiology of succinic semialdehyde dehydrogenase (SSADH) deficiency is not completely understood. Oxidative stress, mitochondrial pathology, and low reduced glutathione levels have been demonstrated in mice, but no studies have been reporte
Externí odkaz:
https://doaj.org/article/14b9a82dbffb4ef2a753f704a34392ec
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:
Maria K. Haanpää, Bobby G. Ng, Natalie M. Gallant, Kathryn E. Singh, Candida Brown, Virginia Kimonis, Hudson H. Freeze, Eric A. Muller
Publikováno v:
American Journal of Medical Genetics Part A. 179
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02ff3ad9ff945ace2e35362fd05c750c
https://doi.org/10.1002/ajmg.a.61077
https://doi.org/10.1002/ajmg.a.61077
Autor:
Bobby G. Ng, Candida Brown, Hudson H. Freeze, Eric Muller, Kathryn E. Singh, Virginia Kimonis, Natalie M. Gallant, Maria K. Haanpää
Publikováno v:
American journal of medical genetics. Part A. 179(3)
ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eacc7f5b963aa0d8295ac07be3f5dbd1
https://pubmed.ncbi.nlm.nih.gov/33219636
https://pubmed.ncbi.nlm.nih.gov/33219636
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 129-132 (2014)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
The pathophysiology of succinic semialdehyde dehydrogenase (SSADH) deficiency is not completely understood. Oxidative stress, mitochondrial pathology, and low reduced glutathione levels have been demonstrated in mice, but no studies have been reporte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89dbe13e96bceae60accaddddac72d3b
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