Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

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

Survival of motor neurone protein is required for normal postnatal development of the spleen

Autor: Simon H. Parson, Hannah K. Shorrock, Thomas H. Gillingwater, Alison K. Thomson, Rachael A. Powis, Kathryn J. Swoboda, Eilidh Somers, Kelley J. Murphy

Publikováno v: Thomson, A, Somers, E, Powis, R, Shorrock, H K, Murphy, K, Swoboda, K J, Gillingwater, T & Parson, S H 2016, ' Survival of motor neurone protein is required for normal postnatal development of the spleen ', Journal of Anatomy . https://doi.org/10.1111/joa.12546

Spinal muscular atrophy (SMA), traditionally described as a predominantly childhood form of motor neurone disease, is the leading genetic cause of infant mortality. Although motor neurones are undoubtedly the primary affected cell type, the severe in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba2056ed27ed09345adeb468d6002f01
https://hdl.handle.net/20.500.11820/2e1a6a31-a480-4112-8139-fdadb62c2eba

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

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)

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

Elevated cyclooxygenase-2 expression correlates with diminished survival in carcinoma of the cervix treated with radiotherapy

Autor: Joseph A. Holden, Marie P Davis, Mark K. Dodson, Kelley J. Murphy, Karen Zempolich, David K. Gaffney

Publikováno v: International Journal of Radiation Oncology*Biology*Physics. 49:1213-1217

Purpose: The purpose of this study was to examine the relationship between overall survival and prognostic factors in carcinoma of the cervix treated with radiation therapy. A clinicopathologic study was performed on 24 patients. Methods and Material

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d536e987103cba18d6ddd1e5aa04eb5c
https://doi.org/10.1016/s0360-3016(00)01583-2

Glucose metabolism and pancreatic defects in spinal muscular atrophy

Autor: Kelley J. Murphy, Melissa Bowerman, John Paul Michalski, Rashmi Kothary, Robert A. Screaton, Kathryn J. Swoboda, Ariane Beauvais, Courtney Reeks, Fraser W. Scott, John Woulfe, Gen Sheng Wang

Publikováno v: Annals of neurology. 72(2)

Spinal muscular atrophy (SMA) is a neuromuscular disorder affecting 1 in 6,000 to 10,000 live births. SMA is a leading inherited cause of death in children 95% of cases of this devastating autosomal recessive disease.1,3 Pathological and clinical man

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012a54d235092e646ef447cb1d709f57
https://pubmed.ncbi.nlm.nih.gov/22926856