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J Swoboda

Showing results (71-80 of 174) with videos related to

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Journal of Child Neurology|October 8, 2013
Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findingsRebecca Hurst Davis, Barbara J Godshall, Erin Seffrood, et al.
Annals of Neurology|April 27, 2005
Natural history of denervation in SMA: relation to age, SMN2 copy number, and functionKathryn J Swoboda, Thomas W Prior, Charles B Scott, et al.
Neuromuscular Disorders : NMD|March 13, 2017
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCRDeborah L Stabley, Jennifer Holbrook, Ashlee W Harris, et al.
Neurobiology of Disease|April 30, 2020
Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotypeJohn P Snow, Grant Westlake, Lindsay K Klofas, et al.
Molecular Therapy. Methods & Clinical Development|March 26, 2021
Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovecJohn W Day, Richard S Finkel, Eugenio Mercuri, et al.
Journal of Anatomy|October 12, 2016
Survival of motor neurone protein is required for normal postnatal development of the spleenAlison K Thomson, Eilidh Somers, Rachael A Powis, et al.
Pediatrics|November 23, 2017
Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease SpectrumDavid F Kronn, Debra Day-Salvatore, Wuh-Liang Hwu, et al.
Neurobiology of Disease|March 24, 2018
Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhoodChristine Q Simmons, Christopher H Thompson, Bryan E Cawthon, et al.
Journal of Medical Genetics|October 25, 2014
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disabilityDavid Hunt, Richard J Leventer, Cas Simons, et al.
Gene Therapy|April 1, 2025
Early life safety profiling of gene therapy for spinal muscular atrophyRebecca G Spellman, Leillani L Ha, Salomé Da Silva Duarte Lepez, et al.
Pageof 18

Showing results (71-80 of 174) with videos related to

Sort By:
Pageof 18
Journal of Child Neurology|October 8, 2013
Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findingsRebecca Hurst Davis, Barbara J Godshall, Erin Seffrood, et al.
Annals of Neurology|April 27, 2005
Natural history of denervation in SMA: relation to age, SMN2 copy number, and functionKathryn J Swoboda, Thomas W Prior, Charles B Scott, et al.
Neuromuscular Disorders : NMD|March 13, 2017
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCRDeborah L Stabley, Jennifer Holbrook, Ashlee W Harris, et al.
Neurobiology of Disease|April 30, 2020
Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotypeJohn P Snow, Grant Westlake, Lindsay K Klofas, et al.
Molecular Therapy. Methods & Clinical Development|March 26, 2021
Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovecJohn W Day, Richard S Finkel, Eugenio Mercuri, et al.
Journal of Anatomy|October 12, 2016
Survival of motor neurone protein is required for normal postnatal development of the spleenAlison K Thomson, Eilidh Somers, Rachael A Powis, et al.
Pediatrics|November 23, 2017
Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease SpectrumDavid F Kronn, Debra Day-Salvatore, Wuh-Liang Hwu, et al.
Neurobiology of Disease|March 24, 2018
Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhoodChristine Q Simmons, Christopher H Thompson, Bryan E Cawthon, et al.
Journal of Medical Genetics|October 25, 2014
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disabilityDavid Hunt, Richard J Leventer, Cas Simons, et al.
Gene Therapy|April 1, 2025
Early life safety profiling of gene therapy for spinal muscular atrophyRebecca G Spellman, Leillani L Ha, Salomé Da Silva Duarte Lepez, et al.
Pageof 18