Zoekresultaten - Finkel, Richard S

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  1. 1
    Readthrough Strategies for Suppression of Nonsense Mutations in Duchenne/Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

    Readthrough Strategies for Suppression of Nonsense Mutations in Duchenne/Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124) door Finkel, Richard S.

    Gepubliceerd in 2010
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  2. 2
    Widening gap in age at muscular dystrophy–associated death between blacks and whites, 1986–2005

    Widening gap in age at muscular dystrophy–associated death between blacks and whites, 1986–2005 door Kenneson, Aileen, Vatave, Ajay, Finkel, Richard

    Gepubliceerd in 2010
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  3. 3
    Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy

    Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy door Finkel, Richard S., Schara-Schmidt, Ulrike, Hagenacker, Tim

    Gepubliceerd in 2020
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  4. 4
    Spinal Muscular Atrophy Type I: Is It Ethical to Standardize Supportive Care Intervention in Clinical Trials?

    Spinal Muscular Atrophy Type I: Is It Ethical to Standardize Supportive Care Intervention in Clinical Trials? door Finkel, Richard S., Bishop, Kathie M., Nelson, Robert M.

    Gepubliceerd in 2016
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  5. 5
    Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

    Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease door Swarr, Daniel T., Kaufman, Beth, Fogel, Mark A., Finkel, Richard, Ganesh, Jaya

    Gepubliceerd in 2011
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  6. 6
    Evolution of Next Generation Therapeutics: Past, Present, and Future of Precision Medicines

    Evolution of Next Generation Therapeutics: Past, Present, and Future of Precision Medicines door Ramamoorthy, Anuradha, Karnes, Jason H., Finkel, Richard, Blanchard, Rebecca, Pacanowski, Michael

    Gepubliceerd in 2019
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  7. 7
    The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax

    The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax door Navas Nazario, Aledie, Cooper, Felicia I, Weber-Guzman, Fabiola, Finkel, Richard S

    Gepubliceerd in 2022
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  8. 8
    Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

    Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy door Pierson, Tyler Mark, Bonnemann, Carsten G, Finkel, Richard S, Bunin, Nancy, Tennekoon, Gihan I

    Gepubliceerd in 2008
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  9. 9
    SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe

    SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe door Kayadjanian, Nathalie, Burghes, Arthur, Finkel, Richard S, Mercuri, Eugenio, Rouault, Francoise, Schwersenz, Inge, Talbot, Kevin

    Gepubliceerd in 2013
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  10. 10
    Serial Casting for the Management of Ankle Contracture in Duchenne Muscular Dystrophy

    Serial Casting for the Management of Ankle Contracture in Duchenne Muscular Dystrophy door Glanzman, Allan M., Flickinger, Jean M., Dholakia, Kripa H., Bönnemann, Carsten G., Finkel, Richard S.

    Gepubliceerd in 2011
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  11. 11
    UNRELATED UMBILICAL CORD BLOOD TRANSPLANT FOR JUVENILE METACHROMATIC LEUKODYSTROPHY: A FIVE-YEAR FOLLOW-UP IN THREE AFFECTED SIBLINGS

    UNRELATED UMBILICAL CORD BLOOD TRANSPLANT FOR JUVENILE METACHROMATIC LEUKODYSTROPHY: A FIVE-YEAR FOLLOW-UP IN THREE AFFECTED SIBLINGS door Cable, Casey, Finkel, Richard S, Lehky, Tanya J, Biassou, Nadia M, Wiggs, Edythe A, Bunin, Nancy, Pierson, Tyler Mark

    Gepubliceerd in 2010
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  12. 12
    GFPT1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity

    GFPT1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity door Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Brengman, Joan, Ohno, Kinji, Deymeer, Feza, Finkel, Richard, Rowin, Julie, Engel, Andrew G.

    Gepubliceerd in 2013
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  13. 13
    Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

    Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I door Harding, Brian N., Kariya, Shingo, Monani, Umrao R., Chung, Wendy K., Benton, Maryjane, Yum, Sabrina W., Tennekoon, Gihan, Finkel, Richard S.

    Gepubliceerd in 2015
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  14. 14
    An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials

    An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials door Darras, Basil T., Farrar, Michelle A., Mercuri, Eugenio, Finkel, Richard S., Foster, Richard, Hughes, Steven G., Bhan, Ishir, Farwell, Wildon, Gheuens, Sarah

    Gepubliceerd in 2019
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  15. 15
    MRI/MRS Evaluation of a Female Carrier of Duchenne Muscular Dystrophy

    MRI/MRS Evaluation of a Female Carrier of Duchenne Muscular Dystrophy door Forbes, Sean C., Lott, Donovan J., Finkel, Richard S., Senesac, Claudia, Byrne, Barry J., Sweeney, H. L., Walter, Glenn A., Vandenborne, Krista

    Gepubliceerd in 2012
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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 door Day, John W., Finkel, Richard S., Mercuri, Eugenio, Swoboda, Kathryn J., Menier, Melissa, van Olden, Rudolf, Tauscher-Wisniewski, Sitra, Mendell, Jerry R.

    Gepubliceerd in 2021
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  17. 17
    Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis

    Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis door Coratti, Giorgia, Cutrona, Costanza, Pera, Maria Carmela, Bovis, Francesca, Ponzano, Marta, Chieppa, Fabrizia, Antonaci, Laura, Sansone, Valeria, Finkel, Richard, Pane, Marika, Mercuri, Eugenio

    Gepubliceerd in 2021
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  18. 18
    Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model

    Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model door MacCannell, Drew, Berger, Zdenek, Kirschner, Janbernd, Mercuri, Eugenio, Farrar, Michelle A., Iannaccone, Susan T., Kuntz, Nancy L., Finkel, Richard S., Valente, Marta, Muntoni, Francesco

    Gepubliceerd in 2022
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  19. 19
    Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States

    Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States door Darras, Basil T., Guye, Sabrina, Hoffart, Janine, Schneider, Sophie, Gravestock, Isaac, Gorni, Ksenija, Fuerst‐Recktenwald, Sabine, Scalco, Renata S., Finkel, Richard S., De Vivo, Darryl C.

    Gepubliceerd in 2022
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  20. 20
    The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

    The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease door Banugaria, Suhrad G., Prater, Sean N., Ng, Yiu-Ki, Kobori, Joyce A., Finkel, Richard S., Ladda, Roger L., Chen, Yuan-Tsong, Rosenberg, Amy S., Kishnani, Priya S.

    Gepubliceerd in 2011
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