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J Swoboda

Showing results (81-90 of 174) with videos related to

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Annals of Neurology|December 28, 2016
Emerging therapies and challenges in spinal muscular atrophyMichelle A Farrar, Susanna B Park, Steve Vucic, et al.
Neurology|August 28, 2002
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathyD Wattanasirichaigoon, K J Swoboda, F Takada, et al.
American Journal of Human Genetics|September 1, 2009
A positive modifier of spinal muscular atrophy in the SMN2 geneThomas W Prior, Adrian R Krainer, Yimin Hua, et al.
Deutsche Medizinische Wochenschrift (1946)|September 23, 2003
[Screening and therapy of anal intraepithelial neoplasia (AIN) and anal carcinoma in patients with HIV-infection]A Kreuter, G Reimann, S Esser, et al.
Annals of Neurology|June 3, 2004
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutationKathryn J Swoboda, Emmanuel Kanavakis, Athina Xaidara, et al.
Annals of Clinical and Translational Neurology|May 15, 2021
Increased systemic HSP70B levels in spinal muscular atrophy infantsEric J Eichelberger, Christiano R R Alves, Ren Zhang, et al.
Child Neurology Open|July 27, 2018
Novel <i>PLP1</i> Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical PhenotypesRebecca L Margraf, Jacob Durtschi, Bryan Krock, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelén Bornstein, Estela Area, Kevin M Flanigan, et al.
Neuromuscular Disorders : NMD|July 27, 2012
Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type IKatherine E Poruk, Rebecca Hurst Davis, Abby L Smart, et al.
Muscle & Nerve|November 15, 2019
Outcome measures in a cohort of ambulatory adults with spinal muscular atrophyBakri Elsheikh, Wendy King, Juan Peng, et al.
Pageof 18

Showing results (81-90 of 174) with videos related to

Sort By:
Pageof 18
Annals of Neurology|December 28, 2016
Emerging therapies and challenges in spinal muscular atrophyMichelle A Farrar, Susanna B Park, Steve Vucic, et al.
Neurology|August 28, 2002
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathyD Wattanasirichaigoon, K J Swoboda, F Takada, et al.
American Journal of Human Genetics|September 1, 2009
A positive modifier of spinal muscular atrophy in the SMN2 geneThomas W Prior, Adrian R Krainer, Yimin Hua, et al.
Deutsche Medizinische Wochenschrift (1946)|September 23, 2003
[Screening and therapy of anal intraepithelial neoplasia (AIN) and anal carcinoma in patients with HIV-infection]A Kreuter, G Reimann, S Esser, et al.
Annals of Neurology|June 3, 2004
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutationKathryn J Swoboda, Emmanuel Kanavakis, Athina Xaidara, et al.
Annals of Clinical and Translational Neurology|May 15, 2021
Increased systemic HSP70B levels in spinal muscular atrophy infantsEric J Eichelberger, Christiano R R Alves, Ren Zhang, et al.
Child Neurology Open|July 27, 2018
Novel <i>PLP1</i> Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical PhenotypesRebecca L Margraf, Jacob Durtschi, Bryan Krock, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelén Bornstein, Estela Area, Kevin M Flanigan, et al.
Neuromuscular Disorders : NMD|July 27, 2012
Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type IKatherine E Poruk, Rebecca Hurst Davis, Abby L Smart, et al.
Muscle & Nerve|November 15, 2019
Outcome measures in a cohort of ambulatory adults with spinal muscular atrophyBakri Elsheikh, Wendy King, Juan Peng, et al.
Pageof 18