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Mark I Rees

Showing results (61-70 of 82) with videos related to

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American Journal of Human Genetics|October 26, 2022
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressureBronwyn E Grinton, Erandee Robertson, Liam G Fearnley, et al.
Brain : a Journal of Neurology|April 17, 2018
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentationJuliette Piard, George K Essien Umanah, Frederike L Harms, et al.
Human Molecular Genetics|February 16, 2010
An ovine transgenic Huntington's disease modelJessie C Jacobsen, C Simon Bawden, Skye R Rudiger, et al.
Brain : a Journal of Neurology|February 2, 2018
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathyJuliette Piard, George K Essien Umanah, Frederike L Harms, et al.
The Journal of Biological Chemistry|April 10, 2003
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexiaMark I Rees, Kirsten Harvey, Hamish Ward, et al.
Neurobiology of Disease|January 11, 2014
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypesAnn J Johnston, Jing-Qiong Kang, Wangzhen Shen, et al.
Epilepsia|June 15, 2018
The phenotype of bilateral hippocampal sclerosis and its management in "real life" clinical settingsArjune Sen, Patricia Dugan, Piero Perucca, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 16, 2010
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexiaSeo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G L Mullins, et al.
Nature Genetics|June 6, 2006
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle diseaseMark I Rees, Kirsten Harvey, Brian R Pearce, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Pageof 9

Showing results (61-70 of 82) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|October 26, 2022
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressureBronwyn E Grinton, Erandee Robertson, Liam G Fearnley, et al.
Brain : a Journal of Neurology|April 17, 2018
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentationJuliette Piard, George K Essien Umanah, Frederike L Harms, et al.
Human Molecular Genetics|February 16, 2010
An ovine transgenic Huntington's disease modelJessie C Jacobsen, C Simon Bawden, Skye R Rudiger, et al.
Brain : a Journal of Neurology|February 2, 2018
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathyJuliette Piard, George K Essien Umanah, Frederike L Harms, et al.
The Journal of Biological Chemistry|April 10, 2003
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexiaMark I Rees, Kirsten Harvey, Hamish Ward, et al.
Neurobiology of Disease|January 11, 2014
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypesAnn J Johnston, Jing-Qiong Kang, Wangzhen Shen, et al.
Epilepsia|June 15, 2018
The phenotype of bilateral hippocampal sclerosis and its management in "real life" clinical settingsArjune Sen, Patricia Dugan, Piero Perucca, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 16, 2010
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexiaSeo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G L Mullins, et al.
Nature Genetics|June 6, 2006
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle diseaseMark I Rees, Kirsten Harvey, Brian R Pearce, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Pageof 9