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Susan Maxwell

Showing results (41-50 of 46) with videos related to

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Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.
Biorxiv : the Preprint Server for Biology|October 1, 2025
Identification of SLC45A4 as a pain gene encoding a neuronal polyamine transporterSteven J Middleton, Sigurbjörn Markússon, Mikael Åkerlund, et al.
Nature|August 20, 2025
SLC45A4 is a pain gene encoding a neuronal polyamine transporterSteven J Middleton, Sigurbjörn Markússon, Mikael Åkerlund, et al.
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.
American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.
Pageof 5

Showing results (41-50 of 46) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 46 results.
Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.
Biorxiv : the Preprint Server for Biology|October 1, 2025
Identification of SLC45A4 as a pain gene encoding a neuronal polyamine transporterSteven J Middleton, Sigurbjörn Markússon, Mikael Åkerlund, et al.
Nature|August 20, 2025
SLC45A4 is a pain gene encoding a neuronal polyamine transporterSteven J Middleton, Sigurbjörn Markússon, Mikael Åkerlund, et al.
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.
American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.
Pageof 5