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Mark I Rees

Showing results (71-80 of 82) with videos related to

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The Journal of Biological Chemistry|July 4, 2012
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2Cecilio Giménez, Gonzalo Pérez-Siles, Jaime Martínez-Villarreal, et al.
BMC Medical Genetics|April 27, 2016
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAndrew E Fry, Elliott Rees, Rose Thompson, et al.
Annals of Clinical and Translational Neurology|December 2, 2020
Trait impulsivity in Juvenile Myoclonic EpilepsyAmy Shakeshaft, Naim Panjwani, Robert McDowall, et al.
Scientific Reports|February 22, 2022
Sex-specific disease modifiers in juvenile myoclonic epilepsyAmy Shakeshaft, Naim Panjwani, Amber Collingwood, et al.
Human Molecular Genetics|November 28, 2012
GLRB is the third major gene of effect in hyperekplexiaSeo-Kyung Chung, Anna Bode, Thomas D Cushion, 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.
The Journal of Biological Chemistry|June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle diseaseEloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.
Brain : a Journal of Neurology|January 25, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaAndrew E Fry, Katherine A Fawcett, Nathanel Zelnik, et al.
Neurology|February 10, 2019
Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.
Pageof 9

Showing results (71-80 of 82) with videos related to

Sort By:
Pageof 9
The Journal of Biological Chemistry|July 4, 2012
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2Cecilio Giménez, Gonzalo Pérez-Siles, Jaime Martínez-Villarreal, et al.
BMC Medical Genetics|April 27, 2016
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAndrew E Fry, Elliott Rees, Rose Thompson, et al.
Annals of Clinical and Translational Neurology|December 2, 2020
Trait impulsivity in Juvenile Myoclonic EpilepsyAmy Shakeshaft, Naim Panjwani, Robert McDowall, et al.
Scientific Reports|February 22, 2022
Sex-specific disease modifiers in juvenile myoclonic epilepsyAmy Shakeshaft, Naim Panjwani, Amber Collingwood, et al.
Human Molecular Genetics|November 28, 2012
GLRB is the third major gene of effect in hyperekplexiaSeo-Kyung Chung, Anna Bode, Thomas D Cushion, 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.
The Journal of Biological Chemistry|June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle diseaseEloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.
Brain : a Journal of Neurology|January 25, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaAndrew E Fry, Katherine A Fawcett, Nathanel Zelnik, et al.
Neurology|February 10, 2019
Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.
Pageof 9