Search research articles
Contact Us
Filters
Showing results (251-260 of 324) with videos related to
Page
of 33
Sort By:
Nature Clinical Practice. Neurology
|
February 8, 2008
Typical progression of myoclonic epilepsy of the Lafora type: a case report
Pasquale Striano, Federico Zara, Julie Turnbull, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 8, 1998
Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome
T M DeLorey, A Handforth, S G Anagnostaras, et al.
Cell Metabolism
|
May 14, 2013
Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease
Felix Nitschke, Peixiang Wang, Peter Schmieder, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 28, 2007
Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
Vincent S Tagliabracci, Julie Turnbull, Wei Wang, et al.
The American Journal of Pathology
|
February 1, 1989
Cellular localization of simian immunodeficiency virus in lymphoid tissues. I. Immunohistochemistry and electron microscopy
D J Ringler, M S Wyand, D G Walsh, et al.
The Journal of Biological Chemistry
|
December 25, 2019
Comprehensive engineering of the tarantula venom peptide huwentoxin-IV to inhibit the human voltage-gated sodium channel hNa<sub>v</sub>1.7
Robert A Neff, Mack Flinspach, Alan Gibbs, et al.
American Journal of Human Genetics
|
November 5, 1997
Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities
J Sainz, B A Minassian, J M Serratosa, et al.
Acta Neuropathologica
|
February 27, 2024
Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses
Sharmistha Mitra, Baozhi Chen, John M Shelton, et al.
EMBO Molecular Medicine
|
May 25, 2017
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
Felix Nitschke, Mitchell A Sullivan, Peixiang Wang, et al.
Epilepsia
|
August 31, 2019
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome
Xiao Jiang, Praveen K Raju, Nazzareno D'Avanzo, et al.
Page
of 33
Search research articles
Search
Showing results (251-260 of 324) with videos related to
Sort By:
Page
of 33
Nature Clinical Practice. Neurology
|
February 8, 2008
Typical progression of myoclonic epilepsy of the Lafora type: a case report
Pasquale Striano, Federico Zara, Julie Turnbull, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 8, 1998
Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome
T M DeLorey, A Handforth, S G Anagnostaras, et al.
Cell Metabolism
|
May 14, 2013
Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease
Felix Nitschke, Peixiang Wang, Peter Schmieder, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 28, 2007
Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
Vincent S Tagliabracci, Julie Turnbull, Wei Wang, et al.
The American Journal of Pathology
|
February 1, 1989
Cellular localization of simian immunodeficiency virus in lymphoid tissues. I. Immunohistochemistry and electron microscopy
D J Ringler, M S Wyand, D G Walsh, et al.
The Journal of Biological Chemistry
|
December 25, 2019
Comprehensive engineering of the tarantula venom peptide huwentoxin-IV to inhibit the human voltage-gated sodium channel hNa<sub>v</sub>1.7
Robert A Neff, Mack Flinspach, Alan Gibbs, et al.
American Journal of Human Genetics
|
November 5, 1997
Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities
J Sainz, B A Minassian, J M Serratosa, et al.
Acta Neuropathologica
|
February 27, 2024
Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses
Sharmistha Mitra, Baozhi Chen, John M Shelton, et al.
EMBO Molecular Medicine
|
May 25, 2017
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
Felix Nitschke, Mitchell A Sullivan, Peixiang Wang, et al.
Epilepsia
|
August 31, 2019
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome
Xiao Jiang, Praveen K Raju, Nazzareno D'Avanzo, et al.
Page
of 33