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Stephen Malone

Showing results (21-30 of 29) with videos related to

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Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
Journal of Medical Genetics|July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylationShino Shimada, Bobby G Ng, Amy L White, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Epilepsia|June 12, 2016
Rasmussen encephalitis tissue transfer programCarol A Kruse, Carlos A Pardo, Adam L Hartman, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
Journal of Medical Genetics|July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylationShino Shimada, Bobby G Ng, Amy L White, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Epilepsia|June 12, 2016
Rasmussen encephalitis tissue transfer programCarol A Kruse, Carlos A Pardo, Adam L Hartman, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
Pageof 3