Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sarah R Cheyette"'
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
Publikováno v:
Clinical journal of gastroenterology, vol 9, iss 6
We report a case of irritable bowel syndrome (IBS), diarrhea subtype, characterized by daily ‘morning rush’ and episodic acute exacerbations brought on by common IBS trigger foods including insoluble fiber, red wine and large/rich meals. The pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7fa5994c099dcd614f59c5f88e29bc1
https://pubmed.ncbi.nlm.nih.gov/27699640
https://pubmed.ncbi.nlm.nih.gov/27699640
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
Autor:
Juliet Chhay Bishop, Jacqueline G. Lu, Sarah R. Cheyette, Igor B. Zhulin, Nara Sobreira, Su Guo, Steven E. Brenner
Publikováno v:
Molecular Case Studies. 4:a002287
Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole-exome sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebd6f5714a2ae37927507a3b3ee8c45c
https://doi.org/10.1101/mcs.a002287
https://doi.org/10.1101/mcs.a002287
Publikováno v:
Pediatric and Developmental Pathology. 5:54-68
Congenital absence of the midbrain and upper pons is a rare human malformation. We describe two unrelated infants with this anomaly and cerebellar hypoplasia who were born at term but died in early infancy from lack of central respiratory drive. MRI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcaad687dfc3d7a40b3387eaa81fec73
https://doi.org/10.1007/s10024-001-0103-5
https://doi.org/10.1007/s10024-001-0103-5
Publikováno v:
Epilepsia. 41:862-867
Summary: Purpose: To describe the clinical spectrum of lamotrigine (LTG)-induced tics (an uncommon side effect) in children. Methods: Retrospective analysis of patients from our hospital-based practice who developed tics while on LTG. Data obtained f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1634bca6ba94e7a246320a9b95a32171
https://doi.org/10.1111/j.1528-1157.2000.tb00254.x
https://doi.org/10.1111/j.1528-1157.2000.tb00254.x
Publikováno v:
Pediatric Neurology. 38:273-275
Dopa-responsive dystonia is a hereditary disease characterized by inadequate dopamine production. Autosomal-dominant cases result from mutations in the GCH1 gene, encoding guanosine triphosphate (GTP)-cyclohydrolase 1. The most common presenting mani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5524f35a23a0293899e636fc72d8db0
https://doi.org/10.1016/j.pediatrneurol.2007.12.005
https://doi.org/10.1016/j.pediatrneurol.2007.12.005