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A Maselli

Showing results (111-120 of 130) with videos related to

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Archives of Neurology|December 14, 2011
Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changesDavid P Richman, Kayoko Nishi, Stuart W Morell, et al.
Muscle & Nerve|October 27, 1997
Cluster of wound botulism in California: clinical, electrophysiologic, and pathologic studyR A Maselli, W Ellis, R N Mandler, et al.
Human Mutation|June 18, 2015
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype CorrelationsJuan Arredondo, Marian Lara, Sídney M Gospe, et al.
Neurology|July 27, 2001
Presynaptic congenital myasthenic syndrome due to quantal release deficiencyR A Maselli, D Z Kong, C M Bowe, et al.
Human Gene Therapy|October 8, 2025
Effective Treatment of Colq-Deficient Mice with Adeno-Associated Virus Type Rh74-Mediated Gene TherapyAbigail McInnes, Jaime N Young, Anahid S Aivazian, et al.
Human Genetics|December 30, 2011
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrinRicardo A Maselli, Jose M Fernandez, Juan Arredondo, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmissionRicardo A Maselli, Juan Arredondo, Jessica Vázquez, et al.
Annals of the New York Academy of Sciences|January 30, 2018
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, et al.
Clinical Genetics|December 24, 2010
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNER A Maselli, J Arredondo, O Cagney, et al.
Annals of Neurology|February 25, 2015
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndromeW David Arnold, Daniel H Feldman, Sandra Ramirez, et al.
Pageof 13

Showing results (111-120 of 130) with videos related to

Sort By:
Pageof 13
Archives of Neurology|December 14, 2011
Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changesDavid P Richman, Kayoko Nishi, Stuart W Morell, et al.
Muscle & Nerve|October 27, 1997
Cluster of wound botulism in California: clinical, electrophysiologic, and pathologic studyR A Maselli, W Ellis, R N Mandler, et al.
Human Mutation|June 18, 2015
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype CorrelationsJuan Arredondo, Marian Lara, Sídney M Gospe, et al.
Neurology|July 27, 2001
Presynaptic congenital myasthenic syndrome due to quantal release deficiencyR A Maselli, D Z Kong, C M Bowe, et al.
Human Gene Therapy|October 8, 2025
Effective Treatment of Colq-Deficient Mice with Adeno-Associated Virus Type Rh74-Mediated Gene TherapyAbigail McInnes, Jaime N Young, Anahid S Aivazian, et al.
Human Genetics|December 30, 2011
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrinRicardo A Maselli, Jose M Fernandez, Juan Arredondo, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmissionRicardo A Maselli, Juan Arredondo, Jessica Vázquez, et al.
Annals of the New York Academy of Sciences|January 30, 2018
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, et al.
Clinical Genetics|December 24, 2010
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNER A Maselli, J Arredondo, O Cagney, et al.
Annals of Neurology|February 25, 2015
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndromeW David Arnold, Daniel H Feldman, Sandra Ramirez, et al.
Pageof 13