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A Minassian

Showing results (271-280 of 324) with videos related to

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The Journal of Comparative Neurology|July 23, 2024
Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage BehaviorVaishnav Krishnan, Jun Wu, Arindam Ghosh Mazumder, et al.
Journal of Child Neurology|April 22, 2015
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 GeneGali Heimer, Yair Sadaka, Lori Israelian, et al.
The Journal of Biological Chemistry|June 14, 2013
Analysis of the structural and molecular basis of voltage-sensitive sodium channel inhibition by the spider toxin huwentoxin-IV (μ-TRTX-Hh2a)Natali A Minassian, Alan Gibbs, Amy Y Shih, et al.
Nature Genetics|March 23, 2004
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeGevork N Mnatzakanian, Hannes Lohi, Iulia Munteanu, et al.
Annals of Neurology|February 16, 1999
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsyB A Minassian, J Sainz, J M Serratosa, et al.
Neurology. Genetics|October 27, 2025
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora DiseaseLorenzo Muccioli, Bazile Ganceviciute, Felicitas Becker, et al.
Neurological Research and Practice|June 27, 2020
Genotypes and phenotypes of patients with Lafora disease living in GermanyDavid Brenner, Tobias Baumgartner, Sarah von Spiczak, et al.
Epilepsia|March 31, 2015
Diagnostic yield of genetic testing in epileptic encephalopathy in childhoodSaadet Mercimek-Mahmutoglu, Jaina Patel, Dawn Cordeiro, et al.
Human Molecular Genetics|July 23, 2015
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide designD Sean Froese, Amit Michaeli, Thomas J McCorvie, et al.
Epilepsy & Behavior : E&B|January 15, 2020
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinicMatthew S Gentry, Zaid Afawi, Dustin D Armstrong, et al.
Pageof 33

Showing results (271-280 of 324) with videos related to

Sort By:
Pageof 33
The Journal of Comparative Neurology|July 23, 2024
Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage BehaviorVaishnav Krishnan, Jun Wu, Arindam Ghosh Mazumder, et al.
Journal of Child Neurology|April 22, 2015
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 GeneGali Heimer, Yair Sadaka, Lori Israelian, et al.
The Journal of Biological Chemistry|June 14, 2013
Analysis of the structural and molecular basis of voltage-sensitive sodium channel inhibition by the spider toxin huwentoxin-IV (μ-TRTX-Hh2a)Natali A Minassian, Alan Gibbs, Amy Y Shih, et al.
Nature Genetics|March 23, 2004
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeGevork N Mnatzakanian, Hannes Lohi, Iulia Munteanu, et al.
Annals of Neurology|February 16, 1999
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsyB A Minassian, J Sainz, J M Serratosa, et al.
Neurology. Genetics|October 27, 2025
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora DiseaseLorenzo Muccioli, Bazile Ganceviciute, Felicitas Becker, et al.
Neurological Research and Practice|June 27, 2020
Genotypes and phenotypes of patients with Lafora disease living in GermanyDavid Brenner, Tobias Baumgartner, Sarah von Spiczak, et al.
Epilepsia|March 31, 2015
Diagnostic yield of genetic testing in epileptic encephalopathy in childhoodSaadet Mercimek-Mahmutoglu, Jaina Patel, Dawn Cordeiro, et al.
Human Molecular Genetics|July 23, 2015
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide designD Sean Froese, Amit Michaeli, Thomas J McCorvie, et al.
Epilepsy & Behavior : E&B|January 15, 2020
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinicMatthew S Gentry, Zaid Afawi, Dustin D Armstrong, et al.
Pageof 33