Search Results - "Ryther, Robin"

Impact of pediatric epilepsy on sleep patterns and behaviors in children and parents by Larson, Anna M., Ryther, Robin C.C., Jennesson, Melanie, Geffrey, Alexandra L., Bruno, Patricia L., Anagnos, Christina J., Shoeb, Ali H., Thibert, Ronald L., Thiele, Elizabeth A.

“…Summary Purpose:  Disrupted sleep patterns in children with epilepsy and their parents are commonly described clinically. A number of studies have shown…”
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Mammalian Target of Rapamycin (mTOR) Inhibition: Potential for Antiseizure, Antiepileptogenic, and Epileptostatic Therapy by Ryther, Robin C. C., Wong, Michael

“…New epilepsy treatments are needed that not only inhibit seizures symptomatically (antiseizure) but also prevent the development of epilepsy…”
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Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes by Ryther, Robin C. C., Cho-Park, Yoon Andrew, Lee, Jong Woo

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Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome by Peters, Sarika U., Fu, Cary, Suter, Bernhard, Marsh, Eric, Benke, Timothy A., Skinner, Steve A., Lieberman, David N., Standridge, Shannon, Jones, Mary, Beisang, Arthur, Feyma, Timothy, Heydeman, Peter, Ryther, Robin, Kaufmann, Walter E., Glaze, Daniel G., Neul, Jeffrey L., Percy, Alan K.

“…Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental…”
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Clinical Features and Disease Progression in Older Individuals with Rett Syndrome by Neul, Jeffrey L, Benke, Timothy A, Marsh, Eric D, Suter, Bernhard, Fu, Cary, Ryther, Robin C, Skinner, Steven A, Lieberman, David N, Feyma, Timothy, Beisang, Arthur, Heydemann, Peter, Peters, Sarika U, Ananth, Amitha, Percy, Alan K

“…Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased…”
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Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study by Buchanan, Caroline B, Stallworth, Jennifer L, Joy, Aubin E, Dixon, Rebekah E, Scott, Alexandra E, Beisang, Arthur A, Benke, Timothy A, Glaze, Daniel G, Haas, Richard H, Heydemann, Peter T, Jones, Mary D, Lane, Jane B, Lieberman, David N, Marsh, Eric D, Neul, Jeffrey L, Peters, Sarika U, Ryther, Robin C, Skinner, Steve A, Standridge, Shannon M, Kaufmann, Walter E, Percy, Alan K

“…Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to…”
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Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study by Neul, Jeffrey L, Benke, Timothy A, Marsh, Eric D, Suter, Bernhard, Silveira, Lori, Fu, Cary, Peters, Sarika U, Percy, Alan K

“…Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches…”
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Distribution of hand function by age in individuals with Rett syndrome by Neul, Jeffrey L., Benke, Tim A., Marsh, Eric D., Lane, Jane B., Lieberman, David N., Skinner, Steven A., Glaze, Daniel G., Suter, Bernhard, Heydemann, Peter T., Beisang, Arthur A., Standridge, Shannon M., Ryther, Robin C. C., Haas, Richard H., Edwards, Lloyd J., Ananth, Amitha, Percy, Alan K.

“…Abstract Objective We aimed to determine the longitudinal distribution of hand function skills in individuals with classic Rett syndrome (RTT), an X‐linked…”
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Developing the Pediatric Refractory Epilepsy Questionnaire: A pilot study by Purusothaman, Vaishnavi, Ryther, Robin C.C, Bertrand, Mary, Harker, Lisa A, Jeffe, Donna B, Wallendorf, Michael, Smyth, Matthew D, Limbrick, David D

“…Abstract Purpose Up to 14% of children with epilepsy continue to experience seizures despite having appropriate medical therapy and develop medically…”
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The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization by Collins, Michael P, Johnson, Mark C, Ryther, Robin C, Weisenberg, Judith L, Heydemann, Peter T, Buhrfiend, Colleen M, Scott, William A, Armstrong, Dallas M M, Kern, Haley M, Nguyen, Hoang H

“…Rett syndrome (RTT) is a developmental encephalopathy disorder that is associated with a high incidence of sudden death presumably from cardiorespiratory…”
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Analysis of X‐inactivation status in a Rett syndrome natural history study cohort by Fang, Xiaolan, Butler, Kameryn M., Abidi, Fatima, Gass, Jennifer, Beisang, Arthur, Feyma, Timothy, Ryther, Robin C., Standridge, Shannon, Heydemann, Peter, Jones, Mary, Haas, Richard, Lieberman, David N, Marsh, Eric D., Benke, Tim A., Skinner, Steve, Neul, Jeffrey L., Percy, Alan K., Friez, Michael J., Caylor, Raymond C.

“…Background Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to…”
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Rescue of Pituitary Function in a Mouse Model of Isolated Growth Hormone Deficiency Type II by RNA Interference by Shariat, Nikki, Ryther, Robin C. C, Phillips, John A, Robinson, Iain C. A. F, Patton, James G

“…Splicing mutations in the human GH (hGH) gene (GH-1) that cause skipping of exon 3 result in a form of GH deficiency termed isolated GH deficiency type II…”
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GH1 Splicing Is Regulated by Multiple Enhancers Whose Mutation Produces a Dominant-Negative GH Isoform That Can Be Degraded by Allele-Specific Small Interfering RNA (siRNA) by Ryther, Robin C. C, Flynt, Alex S, Harris, Bryan D, Phillips, John A, Patton, James G

“…The majority of mutations that cause isolated GH deficiency type II affect splicing of GH1 transcripts, leading to the production of a dominant-negative GH…”
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P105: QTc Prolongation in Rett syndrome: Correlation with genotype by Angelidis, Evdokia, Beisang, Arthur, Benke, Timothy, Glaze, Daniel, Haas, Richard, Heydemann, Peter, Jones, Mary, Lane, Jane, Lieberman, David, Marsh, Eric, Neul, Jeffrey, Peters, Sarika, Ryther, Robin, Skinner, Steven, Standridge, Shannon, Kaufmann, Walter, Percy, Alan, Buchanan, Caroline

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Central Nervous System Hemorrhage by Klein, Joshua P, Ryther, Robin C

“…A 68-year-old man who had hypertension, diabetes, and atrial fibrillation and was being treated with warfarin was discovered snoring and unarousable at home…”
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Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II by RYTHER, Robin C. C, MCGUINNESS, Lindsay M, PHILLIPS, John A, MOSELEY, Chanda T, MAGOULAS, Charalambos B, ROBINSON, Iain C. A. F, PATTON, James G

“…Isolated growth hormone deficiency type II (IGHD II) is characterized by short stature due to dominant-negative mutations of the human growth hormone gene…”
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Abstract 17250: Quantitative T Wave Morphology Analysis in Rett Syndrome Patients by Collins, Michael, Nguyen, Hoang, Johnson, Mark, Ryther, Robin, Weisenberg, Judith

“…IntroductionRett syndrome (RTT) is a genetic neurologic disorder associated with a high incidence of sudden death. Abnormal cardiac repolarization is a…”
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Trofinetide for the Treatment of Girls Aged Two to Four Years with Rett Syndrome: Final Results from the Open-label DAFFODIL Study (S37.003) by Percy, Alan, Ryther, Robin, Marsh, Eric, Feyma, Timothy, Lieberman, David, Neul, Jeffrey, Benke, Timothy, Glaze, Daniel, Berry-Kravis, Elizabeth, Ananth, Amitha, Buhrfiend, Colleen, An, Di, Darwish, Mona, Doshi, Dilesh, Bishop, Kathie, Youakim, James

“…Abstract only…”
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Trofinetide for the treatment of Rett syndrome: an open-label study in girls 2 to 4 years of age (P13-9.005) by Percy, Alan, Ryther, Robin, Marsh, Eric, Feyma, Timothy, Lieberman, David, Neul, Jeffrey, Benke, Timothy, Glaze, Daniel, Berry-Kravis, Elizabeth, Ananth, Amitha, Buhrfiend, Colleen, Stankovic, Srdjan, Bishop, Kathie, Darwish, Mona, Youakim, James

“…Abstract only…”
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The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2 by Neul, Jeffrey L., Benke, Timothy A., Marsh, Eric D., Skinner, Steven A., Merritt, Jonathan, Lieberman, David N., Standridge, Shannon, Feyma, Timothy, Heydemann, Peter, Peters, Sarika, Ryther, Robin, Jones, Mary, Suter, Bernhard, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.

“…Mutations in the X‐linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily in girls. It had been suspected…”
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