Resultados da pesquisa - Kathryn J. Swoboda

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  1. 1
    Motor unit number estimation in infants and children with spinal muscular atrophy

    Motor unit number estimation in infants and children with spinal muscular atrophy Por Mark B. Bromberg, Kathryn J. Swoboda

    Publicado em 2002
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  2. 2
    The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

    The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond Por Matthew Sweney, Tara Newcomb, Kathryn J. Swoboda

    Publicado em 2014
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  3. 3
    Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II

    Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II Por Rebecca Hurst Davis, Elizabeth A. Miller, Ren Zhe Zhang, Kathryn J. Swoboda

    Publicado em 2015
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  4. 4
    Homozygous <i>SMN1</i> deletions in unaffected family members and modification of the phenotype by <i>SMN2</i>

    Homozygous <i>SMN1</i> deletions in unaffected family members and modification of the phenotype by <i>SMN2</i> Por Thomas W. Prior, Kathryn J. Swoboda, H. Denman Scott, Ashley Q. Hejmanowski

    Publicado em 2004
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  5. 5
    Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

    Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy Por Alexandra Prufer de Queiroz Campos Araújo, Mário Lúcio Cordeiro Araujo, Kathryn J. Swoboda

    Publicado em 2009
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  6. 6
    A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

    A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy Por Kristin J. Krosschell, Jo Anne Maczulski, Thomas O. Crawford, Charles Scott, Kathryn J. Swoboda

    Publicado em 2006
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  7. 7
    Genotype-structure-phenotype relationships diverge in paralogs <i>ATP1A1</i> , <i>ATP1A2</i> , and <i>ATP1A3</i>

    Genotype-structure-phenotype relationships diverge in paralogs <i>ATP1A1</i> , <i>ATP1A2</i> , and <i>ATP1A3</i> Por Kathleen J. Sweadner, Elena Arystarkhova, John T. Penniston, Kathryn J. Swoboda, Allison Brashear, Laurie J. Ozelius

    Publicado em 2019
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  8. 8
    Spinal muscular atrophy type 1

    Spinal muscular atrophy type 1 Por Tara J. Lemoine, Kathryn J. Swoboda, Susan L. Bratton, Richard Holubkov, Michael B. Mundorff, Rajendu Srivastava

    Publicado em 2011
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  9. 9
    Bone loss in survival motor neuron (<i>Smn</i><sup>−/−</sup><i>SMN2</i>) genetic mouse model of spinal muscular atrophy

    Bone loss in survival motor neuron (<i>Smn</i><sup>−/−</sup><i>SMN2</i>) genetic mouse model of spinal muscular atrophy Por Srinivasan Shanmugarajan, Eichi Tsuruga, Kathryn J. Swoboda, Bernard L. Maria, William L. Ries, Sakamuri V. Reddy

    Publicado em 2009
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  10. 10
    Sources and Physiological Significance of Plasma Dopamine Sulfate

    Sources and Physiological Significance of Plasma Dopamine Sulfate Por David S. Goldstein, Kathryn J. Swoboda, John J. Miles, Simon W. Coppack, Anders Åneman, Courtney Holmes, Isaac Lamensdorf, Graeme Eisenhofer

    Publicado em 1999
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  11. 11
    Intrathecal Injections in Children With Spinal Muscular Atrophy

    Intrathecal Injections in Children With Spinal Muscular Atrophy Por Manon Haché, Kathryn J. Swoboda, Navil F. Sethna, Alan Farrow-Gillespie, Alexander G. Khandji, Shuting Xia, Kathie M. Bishop

    Publicado em 2016
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  12. 12
    NALCN channelopathies

    NALCN channelopathies Por Eric G. Bend, Yue Si, David A. Stevenson, Pınar Bayrak‐Toydemir, Tara Newcomb, Erik M. Jørgensen, Kathryn J. Swoboda

    Publicado em 2016
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  13. 13
    Developing multidisciplinary clinics for neuromuscular care and research

    Developing multidisciplinary clinics for neuromuscular care and research Por Sabrina Paganoni, Katie Nicholson, Fawn Leigh, Kathryn J. Swoboda, David A. Chad, Kristin Drake, Kellen Haley, Merit Cudkowicz, James Berry

    Publicado em 2017
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  14. 14
    Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

    Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum Por David F. Kronn, Debra Day‐Salvatore, Wuh‐Liang Hwu, Simon Jones, Kimitoshi Nakamura, Torayuki Okuyama, Kathryn J. Swoboda, Priya S. Kishnani

    Publicado em 2017
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  15. 15
    Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy

    Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy Por Christiano R. R. Alves, Ren Zhang, Alec J. Johnstone, Reid Garner, Pann H. Nwe, Jennifer J. Siranosian, Kathryn J. Swoboda

    Publicado em 2019
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  16. 16
    Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec

    Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec Por John Day, Richard S. Finkel, Eugenio Mercuri, Kathryn J. Swoboda, Melissa Menier, Rudolf van Olden, Sitra Tauscher‐Wisniewski, Jerry R. Mendell

    Publicado em 2021
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  17. 17
    Natural history of denervation in SMA: Relation to age, <i>SMN2</i> copy number, and function

    Natural history of denervation in SMA: Relation to age, <i>SMN2</i> copy number, and function Por Kathryn J. Swoboda, Thomas W. Prior, Charles Scott, Teresa P. McNaught, Mark C. Wride, Sandra P. Reyna, Mark B. Bromberg

    Publicado em 2005
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  18. 18
    A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

    A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene Por Thomas W. Prior, Adrian R. Krainer, Yimin Hua, Kathryn J. Swoboda, Pamela C. Snyder, Scott J. Bridgeman, Arthur H.M. Burghes, John T. Kissel

    Publicado em 2009
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  19. 19
    Survival of motor neurone protein is required for normal postnatal development of the spleen

    Survival of motor neurone protein is required for normal postnatal development of the spleen Por Alison K. Thomson, Eilidh Somers, Rachael A. Powis, Hannah K. Shorrock, Kelley J. Murphy, Kathryn J. Swoboda, Thomas H. Gillingwater, Simon H. Parson

    Publicado em 2016
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  20. 20
    Emerging therapies and challenges in spinal muscular atrophy

    Emerging therapies and challenges in spinal muscular atrophy Por Michelle A. Farrar, Susanna B. Park, Steve Vucic, Kate A. Carey, Bradley J. Turner, Thomas H. Gillingwater, Kathryn J. Swoboda, Matthew C. Kiernan

    Publicado em 2016
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