Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Suzanne D. DeBrosse"'
Autor:
Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
Abstract Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and defective PDP leads to PDC deficiency. We report a case with functional PDC deficiency
Externí odkaz:
https://doaj.org/article/b59d2924e8ea4aa7970c206f3ceba207
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:
Shulin Zhang, George Grahame, Stacey Tarrant, Charles L. Hoppel, Ann M. Bergin, Douglas S. Kerr, Jirair K. Bedoyan, Suzanne D. DeBrosse, Ha Kyung Shin, Leah Hecht, Didem Demirbas, Edward Yang, Gerard T. Berry
Publikováno v:
JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and defective PDP leads to PDC deficiency. We report a case with functional PDC deficiency with low
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f937cc742f8ecb3aa4ecac70175c05
https://doi.org/10.1002/jmd2.12054
https://doi.org/10.1002/jmd2.12054
Autor:
Jun T. Park, Philip S. Fastenau, Nuria Lacuey, Michael Devereaux, Fareeha Ashraf, Naiara Garcia-Losarcos, Carol L. Rosen, Mark L. Cohen, Hesham Abboud, Marge Marsey, Suzanne D. DeBrosse, Rachel Tangen, Asim Shahid, Hans Lüders, Jonathan P. Miller, Marta Couce, Michael Wien, Mustafa Kahriman, Guadalupe Fernandez-Baca Vaca
Publikováno v:
Journal of Pediatric Epilepsy. :002-010
Prof. Hans Lüders organized the first International Electroencephalography (EEG)/Epilepsy course in Cleveland (Ohio, United States) in 1979. His vision was to impart a framework of basic knowledge in EEG and epilepsy. The course participants are ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd3e3e460273ee621c4c0fd681d908c5
https://doi.org/10.1055/s-0039-1692146
https://doi.org/10.1055/s-0039-1692146
Autor:
Sumit Parikh, Kandamurugu Manickam, Dennis Bartholomew, Nicole Ducich, Edwin Ferren, Kirkland Wilson, Rosemary Hage, Douglas S. Kerr, Suzanne D. DeBrosse, Ha Kyung Shin, April Lehman, Jirair K. Bedoyan, Mari Mori, Bruce M. Cohen, Sharon Linard, Lori-Anne Schillaci
Publikováno v:
JIMD Reports
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c) result i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ec8534541aa478bc3efe9887e90637
https://pubmed.ncbi.nlm.nih.gov/33204598
https://pubmed.ncbi.nlm.nih.gov/33204598
Autor:
A. G. Christina Bergqvist, Katherine L. Helbig, Suzanne D. DeBrosse, Ethan M. Goldberg, Tariq Zaman, Livija Medne, Ivana Babić Božović, Aleš Maver, Kimberly Wallis, Borut Peterlin, Xiaohong Zhang, Ingo Helbig
Publikováno v:
Annals of Neurology. 83:703-717
Objective Voltage-gated sodium (Na+) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na+ channel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b36d91084af1bea3cc805e9edc288911
https://doi.org/10.1002/ana.25188
https://doi.org/10.1002/ana.25188
Autor:
Dennis Bartholomew, Kirkland Wilson, Sharon Linard, Nicole Ducich, Sumit Parikh, April Lehman, Ha Kyung Shin, Bruce M. Cohen, Suzanne D. DeBrosse, Edwin C Ferren, Jirair K. Bedoyan, Douglas S. Kerr, Kandamurugu Manickam, Rosemary Hage, Lori-Anne Schillaci, Mari Mori
Publikováno v:
Molecular Genetics and Metabolism. 132:S6-S7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93358160892e8a2927f43460f8179439
https://doi.org/10.1016/s1096-7192(21)00097-4
https://doi.org/10.1016/s1096-7192(21)00097-4
Autor:
Ki Joong Kim, Jong Hee Chae, Jae Young Seong, Hyosuk Cho, Seok-Geun Lee, Kathryn G. Miller, Sang-Yoon Park, Eunjung Na, Suzanne D. DeBrosse, Kaya Bilguvar, Je Sang Lee, Hee Jung Choi, Lindsay B. Henderson, Hosung Jung, Roseànne S. Ebel, Irina Tikhonova, Jea Yeok Hong, Yong Seung Hwang, Cheryl Clow, Murim Choi, Jin Sook Lee, Yongjin Yoo, Jinhong Wie, Shrikant Mane, Christopher Castaldi, Eun Jin Kim, Yoo Na Lee, Chansik Hong, Natasha Shur, Byung Chan Lim, Jane Jung, Yong Beom Shin, Youngha Lee, Rebecca Willaert, Insuk So
Publikováno v:
Annals of Neurology. 82:466-478
Objective: Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous and overlapping clinical features often allocate patients into the boundary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5e2517cf28f358caefa86ae51912f37
https://doi.org/10.1002/ana.25032
https://doi.org/10.1002/ana.25032
Autor:
David J. Harris, Didem Demirbas, George Grahame, Suzanne D. DeBrosse, Gerard T. Berry, Charles L. Hoppel, Simone Edelheit, Jirair K. Bedoyan, Alexander Miron, Irina Anselm, Douglas S S Kerr, Xiaoping Huang, Lee-Jun C. Wong
Publikováno v:
Molecular Genetics and Metabolism. 120:213-222
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::480fee5b5d6ae0f93f7dde99696494e7
https://doi.org/10.1016/j.ymgme.2016.11.005
https://doi.org/10.1016/j.ymgme.2016.11.005