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Emily O'Connor

Showing results (21-30 of 28) with videos related to

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Brain : a Journal of Neurology|June 5, 2016
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndromeEmily O'Connor, Ana Töpf, Juliane S Müller, et al.
Neurobiology of Disease|November 24, 2018
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and humanVietxuan Phan, Dan Cox, Silvia Cipriani, et al.
Nature Communications|February 28, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic SyndromesIker Núñez-Carpintero, Maria Rigau, Mattia Bosio, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 7, 2016
Sympathetic innervation controls homeostasis of neuromuscular junctions in health and diseaseMuzamil Majid Khan, Danilo Lustrino, Willian A Silveira, et al.
Acta Neuropathologica|August 10, 2022
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneuronsArnaud Jacquier, Valérie Risson, Thomas Simonet, et al.
Brain : a Journal of Neurology|April 1, 2021
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDHDenisa Hathazi, Dan Cox, Adele D'Amico, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Diabetes Research and Clinical Practice|June 16, 2022
Retrospective national cohort study of pregnancy outcomes for women with type 1 and type 2 diabetes mellitus in Republic of IrelandChristine Newman, Aoife M Egan, Tomas Ahern, et al.
Pageof 3

Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Brain : a Journal of Neurology|June 5, 2016
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndromeEmily O'Connor, Ana Töpf, Juliane S Müller, et al.
Neurobiology of Disease|November 24, 2018
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and humanVietxuan Phan, Dan Cox, Silvia Cipriani, et al.
Nature Communications|February 28, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic SyndromesIker Núñez-Carpintero, Maria Rigau, Mattia Bosio, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 7, 2016
Sympathetic innervation controls homeostasis of neuromuscular junctions in health and diseaseMuzamil Majid Khan, Danilo Lustrino, Willian A Silveira, et al.
Acta Neuropathologica|August 10, 2022
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneuronsArnaud Jacquier, Valérie Risson, Thomas Simonet, et al.
Brain : a Journal of Neurology|April 1, 2021
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDHDenisa Hathazi, Dan Cox, Adele D'Amico, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Diabetes Research and Clinical Practice|June 16, 2022
Retrospective national cohort study of pregnancy outcomes for women with type 1 and type 2 diabetes mellitus in Republic of IrelandChristine Newman, Aoife M Egan, Tomas Ahern, et al.
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