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Richard S Finkel (Richard Finkel)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 26

Top Venues

American journal of medical genetics. Part C, Seminars in medical genetics

Neurology

Journal of clinical medicine

Brain : a journal of neurology

St. Jude Children's Research Hospital

This page only lists publications with an associated author ORCID identifier.

Affiliation History

St. Jude Children's Research Hospital Mar 16o 2020

United States

Director, Translational Neurosciences :: Pediatrics

Publications

Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni-Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D'Amico, Enrico Silvio Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W Day, Basil T Darras, Darryl C De Vivo, Richard S Finkel, Eugenio Mercuri, Francesco Muntoni, null null
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. Journal of clinical medicine 12 (5) (2023)
Gabrielle A Donlevy, Kayla Md Cornett, Sarah P Garnett, Rosemary Shy, Timothy Estilow, Sabrina W Yum, Kimberly Anderson, Davide Pareyson, Isabella Moroni, Francesco Muntoni, Mary M Reilly, Richard S Finkel, David N Herrmann, Katy J Eichinger, Michael E Shy, Joshua Burns, Manoj P Menezes
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease. Neurology (2023)
Amy M Gaviglio, Mark W Skinner, Lily J Lou, Richard S Finkel, Erika F Augustine, Aaron J Goldenberg
Gene-targeted therapies: Towards equitable development, diagnosis, and access. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Sally Dunaway Young, Jacqueline Montes, Allan M Glanzman, Richard Gee, John W Day, Richard S Finkel, Basil T Darras, Darryl C De Vivo, Giulia Gambino, Richard Foster, Janice Wong, Steve Garafalo, Zdenek Berger, null null
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function. Journal of clinical medicine 12 (15) (2023)
Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson, Chiara Pisciotta, Shawna M E Feely, Thomas E Lloyd, Rita Horvath, Reza Sadjadi, David N Herrmann, Jun Li, David Walk, Sabrina W Yum, Richard A Lewis, John Day, Joshua Burns, Richard S Finkel, Mario A Saporta, Sindhu Ramchandren, Michael D Weiss, Gyula Acsadi, Vera Fridman, Francesco Muntoni, Roy Poh, James M Polke, Adriana P Rebelo, Michael E Shy, Stephen W Scherer, Mary M Reilly, null null
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain : a journal of neurology (2023)
Julie Lekstrom-Himes, Erika F Augustine, Amy M Brower, Thomas Defay, Richard S Finkel, Amy L McGuire, Mark W Skinner, Timothy W Yu
Data sharing to advance gene-targeted therapies in rare diseases. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Louis P Garrison, Andrew W Lo, Richard S Finkel, Patricia A Deverka
A review of economic issues for gene-targeted therapies: Value, affordability, and access. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Julie Lekstrom-Himes, Erika F Augustine, Amy M Brower, Thomas Defay, Richard S Finkel, Amy L McGuire, Mark W Skinner, Timothy W Yu
Data sharing to advance gene-targeted therapies in rare diseases. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Louis P Garrison, Andrew W Lo, Richard S Finkel, Patricia A Deverka
A review of economic issues for gene-targeted therapies: Value, affordability, and access. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Amy M Gaviglio, Mark W Skinner, Lily J Lou, Richard S Finkel, Erika F Augustine, Aaron J Goldenberg
Gene-targeted therapies: Towards equitable development, diagnosis, and access. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Amy M Gaviglio, Mark W Skinner, Lily J Lou, Richard S Finkel, Erika F Augustine, Aaron J Goldenberg
Gene-targeted therapies: Towards equitable development, diagnosis, and access. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Silvio Bertini, Paul Wuh-Liang Hwu, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Aledie Navas Nazario, Julie A Parsons, Astrid Pechmann, Monique M Ryan, Russell J Butterfield, Haluk A Topaloglu, Tawfeg Ben-Omran, Valeria Ada Sansone, Yuh-Jyh Jong, Francy Shu, Cong Zhu, Stephanie Raynaud, Tiffany R Lago, Angela D Paradis, Richard Foster, Russell Chin, Zdenek Berger, null null
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle & nerve (2023)
Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni-Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D'Amico, Enrico Silvio Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W Day, Basil T Darras, Darryl C De Vivo, Richard S Finkel, Eugenio Mercuri, Francesco Muntoni, null null
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. Journal of clinical medicine 12 (5) (2023)
Tyler Rehbein, Tong Tong Wu, Simona Treidler, Davide Pareyson, Richard Lewis, Sabrina W Yum, Brett A McCray, Sindhu Ramchandren, Joshua Burns, Jun Li, Richard S Finkel, Steven S Scherer, Adriana P Rebelo, Michael E Shy, Mary M Reilly, David N Herrmann, null null
Neuropathy due to bi-allelic SH3TC2 variants: Genotype-phenotype correlation and natural history. Brain : a journal of neurology (2023)
Basil T Darras, Sabrina Guye, Janine Hoffart, Sophie Schneider, Isaac Gravestock, Ksenija Gorni, Sabine Fuerst-Recktenwald, Renata S Scalco, Richard S Finkel, Darryl C De Vivo
Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States. Muscle & nerve 66 (1) (2022)
Richard S Finkel, Christian L Lorson
Friend or Foe(tal): challenges in development of a large animal model for pre-clinical fetal gene therapy. Gene therapy 29 (6) (2022)
Richard S Finkel, Michael Benatar
Pre-symptomatic spinal muscular atrophy: a proposed nosology. Brain : a journal of neurology 145 (7) (2022)
Kevin A Strauss, Michelle Anne Farrar, Francesco Muntoni, Kayoko Saito, Jerry R Mendell, Laurent Servais, Hugh J McMillan, Richard S Finkel, Kathryn J Swoboda, Jennifer M Kwon, Craig M Zaidman, Claudia A Chiriboga, Susan T Iannaccone, Jena M Krueger, Julie A Parsons, Perry B Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E McGill, Thomas A Macek
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nature medicine 28 (7) (2022)
Eugenio Mercuri, Charlotte J Sumner, Francesco Muntoni, Basil T Darras, Richard S Finkel
Spinal muscular atrophy. Nature reviews. Disease primers 8 (1) (2022)
Kevin A Strauss, Michelle Anne Farrar, Francesco Muntoni, Kayoko Saito, Jerry R Mendell, Laurent Servais, Hugh J McMillan, Richard S Finkel, Kathryn J Swoboda, Jennifer M Kwon, Craig M Zaidman, Claudia A Chiriboga, Susan T Iannaccone, Jena M Krueger, Julie A Parsons, Perry B Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E McGill, Thomas A Macek
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature medicine 28 (7) (2022)
Gabrielle A Donlevy, Sarah P Garnett, Kayla M D Cornett, Marnee J McKay, Jennifer N Baldwin, Rosemary R Shy, Sabrina W Yum, Timothy Estilow, Isabella Moroni, Maria Foscan, Emanuela Pagliano, Davide Pareyson, Matilde Laura, Trupti Bhandari, Francesco Muntoni, Mary M Reilly, Richard S Finkel, Janet E Sowden, Katy J Eichinger, David N Herrmann, Michael E Shy, Joshua Burns, Manoj P Menezes
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease. Neurology 97 (17) (2021)
Richard S Finkel, Kenneth H Fischbeck
Maybe too much of a good thing in gene therapy. Nature neuroscience 24 (7) (2021)
Eugenio Mercuri, Maria Carmela Pera, Mariacristina Scoto, Richard S Finkel, Francesco Muntoni
Spinal muscular atrophy - insights and challenges in the treatment era. Nature reviews. Neurology 16 (12) (2020)
Federica Trucco, Deborah Ridout, Mariacristina Scoto, Giorgia Coratti, Marion L Main, Robert Muni Lofra, Anna G Mayhew, Jacqueline Montes, Marika Pane, Valeria Sansone, Emilio Albamonte, Adele D'Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Deepak Parasuraman, Anne-Marie Childs, Vasantha Gowda, Tracey Willis, Min Ong, Chiara Marini-Bettolo, Darryl C De Vivo, Basil T Darras, John Day, Elizabeth A Kichula, Oscar H Mayer, Aledie A Navas Nazario, Richard S Finkel, Eugenio Mercuri, Francesco Muntoni, null null
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study. Neurology 96 (4) (2020)
Vera Fridman, Stefan Sillau, Gyula Acsadi, Chelsea Bacon, Kimberly Dooley, Joshua Burns, John Day, Shawna Feely, Richard S Finkel, Tiffany Grider, Laurie Gutmann, David N Herrmann, Callyn A Kirk, Sarrah A Knause, Matilde Laurá, Richard A Lewis, Jun Li, Thomas E Lloyd, Isabella Moroni, Francesco Muntoni, Emanuela Pagliano, Chiara Pisciotta, Giuseppe Piscosquito, Sindhu Ramchandren, Mario A Saporta, Reza Sadjadi, Rosemary R Shy, Carly E Siskind, Charlotte J Sumner, David Walk, Janel Wilcox, Sabrina W Yum, Stephan Züchner, Steven S Scherer, Davide Pareyson, Mary M Reilly, Michael E Shy, null null
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology 94 (9) (2020)
Edward C Smith, Laurie S Conklin, Eric P Hoffman, Paula R Clemens, Jean K Mah, Richard S Finkel, Michela Guglieri, Mar Tulinius, Yoram Nevo, Monique M Ryan, Richard Webster, Diana Castro, Nancy L Kuntz, Laurie Kerchner, Lauren P Morgenroth, Adrienne Arrieta, Maya Shimony, Mark Jaros, Phil Shale, Heather Gordish-Dressman, Laura Hagerty, Utkarsh J Dang, Jesse M Damsker, Benjamin D Schwartz, Laurel J Mengle-Gaw, Craig M McDonald, null null
Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study. PLoS medicine 17 (9) (2020)

Richard S Finkel.css-eqlu8i{font-size:small;padding-left:4px;} (Richard Finkel)

Publication Activity (10 Years)

Top Topics

Top Venues

Richard S Finkel (Richard Finkel)