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J Swoboda

Showing results (41-50 of 174) with videos related to

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The Journal of Pediatrics|January 15, 1998
Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic dietK J Swoboda, L Specht, H R Jones, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|December 27, 2011
Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival?Tara J Lemoine, Kathryn J Swoboda, Susan L Bratton, et al.
The British Journal of Dermatology|November 19, 2015
Asymptomatic anal sexually transmitted infections in HIV-positive men attending anal cancer screeningW Fuchs, A Kreuter, M Hellmich, et al.
Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association|June 23, 2020
Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History DatabaseElise L Townsend, Sarah D Simeone, Kristin J Krosschell, et al.
The Journal of Pathology|May 13, 2009
Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophySrinivasan Shanmugarajan, Eichi Tsuruga, Kathryn J Swoboda, et al.
Neurology|February 7, 2007
Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMAL R Simard, M-C Bélanger, S Morissette, et al.
European Journal of Human Genetics : EJHG|May 26, 2011
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US HutteritesJessica X Chong, A Afşin Oktay, Zunyan Dai, et al.
Neurology. Genetics|March 8, 2019
Genotype-structure-phenotype relationships diverge in paralogs <i>ATP1A1</i>, <i>ATP1A2</i>, and <i>ATP1A3</i>Kathleen J Sweadner, Elena Arystarkhova, John T Penniston, et al.
Journal of Neuromuscular Diseases|April 26, 2020
Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular AtrophyCrystal Jing Jing Yeo, Sarah D Simeone, Elise L Townsend, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiencyK Hyland, T G Nygaard, J M Trugman, et al.
Pageof 18

Showing results (41-50 of 174) with videos related to

Sort By:
Pageof 18
The Journal of Pediatrics|January 15, 1998
Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic dietK J Swoboda, L Specht, H R Jones, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|December 27, 2011
Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival?Tara J Lemoine, Kathryn J Swoboda, Susan L Bratton, et al.
The British Journal of Dermatology|November 19, 2015
Asymptomatic anal sexually transmitted infections in HIV-positive men attending anal cancer screeningW Fuchs, A Kreuter, M Hellmich, et al.
Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association|June 23, 2020
Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History DatabaseElise L Townsend, Sarah D Simeone, Kristin J Krosschell, et al.
The Journal of Pathology|May 13, 2009
Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophySrinivasan Shanmugarajan, Eichi Tsuruga, Kathryn J Swoboda, et al.
Neurology|February 7, 2007
Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMAL R Simard, M-C Bélanger, S Morissette, et al.
European Journal of Human Genetics : EJHG|May 26, 2011
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US HutteritesJessica X Chong, A Afşin Oktay, Zunyan Dai, et al.
Neurology. Genetics|March 8, 2019
Genotype-structure-phenotype relationships diverge in paralogs <i>ATP1A1</i>, <i>ATP1A2</i>, and <i>ATP1A3</i>Kathleen J Sweadner, Elena Arystarkhova, John T Penniston, et al.
Journal of Neuromuscular Diseases|April 26, 2020
Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular AtrophyCrystal Jing Jing Yeo, Sarah D Simeone, Elise L Townsend, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiencyK Hyland, T G Nygaard, J M Trugman, et al.
Pageof 18