RichardSanfordFinkelMD

PubMed

• Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy.
  Katlyn McGrattan, Antonella Cerchiari, Eleanor Conway, Beatrice Berti, Francesco Muntoni, Eugenio Mercuri, , Richard Finkel> ;Neuromuscular Disorders. 2024 Mar 8
• Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
  Laurent Servais, John W Day, Darryl C De Vivo, Janbernd Kirschner, Eugenio Mercuri, Francesco Muntoni, Crystal M Proud, Perry B Shieh, Eduardo F Tizzano, Susana Quijan...> ;Journal of Neuromuscular Diseases. 2024 Jan 1
• Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data.
  Costanza Cutrona, Roberto de Sanctis, Giorgia Coratti, Anna Capasso, Martina Ricci, Giulia Stanca, Sara Carnicella, Meric Utlulig, Giulia Bersani, Ilaria Lazzareschi, ...> ;Journal of Neuromuscular Diseases. 2024 Jan 1
• 2 citations
  Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.
  Crystal M Proud, Eugenio Mercuri, Richard S Finkel, Janbernd Kirschner, Darryl C De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F Tizzano, Isabelle Desguerre, Susan...> ;Annals of Clinical and Translational Neurology. 2023 Nov 1
• 3 citations
  Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function.
  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, ...> ;Journal of Clinical Medicine. 2023 Jul 26
• 8 citations
  Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
  Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Bertini, Wuh-Liang Hwu, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Aledie Navas Nazario, Julie...> ;Muscle & Nerve. 2023 Aug 1
• Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease.
  Gabrielle A Donlevy, Kayla M D Cornett, Sarah P Garnett, Rosemary Shy, Timothy Estilow, Sabrina W Yum, Kimberly Anderson, Davide Pareyson, Isabella Moroni, Francesco M...> ;Neurology. 2023 Aug 15
• 1 citations
  DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.
  Richard S Finkel, John W Day, Samuel Ignacio Pascual Pascual, Monique M Ryan, Eugenio Mercuri, Darryl C De Vivo, Jacqueline Montes, Juliana Gurgel-Giannetti, Michael M...> ;Journal of Neuromuscular Diseases. 2023 Jan 1
• 2 citations
  Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
  Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson, Chiara Pisciotta, Shawna M E Feely, Thomas E Lloyd, Rita Horvath, Reza S...> ;Brain. 2023 Oct 3
• 1 citations
  Development of an International SMA Bulbar Assessment for Inter-professional Administration.
  Sally Dunaway Young, Katlyn McGrattan, Emily Johnson, Marise van der Heul, Tina Duong, Merete Bakke, Ulla Werlauff, Amy Pasternak, Camilla Cattaneo, Katie Hoffman, Lav...> ;Journal of Neuromuscular Diseases. 2023 Jan 1
• 1 citations
  Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.
  Tong Tong Wu, Richard S Finkel, Carly E Siskind, Shawna M E Feely, Joshua Burns, Mary M Reilly, Francesco Muntoni, Evelin Milev, Timothy Estilow, Michael E Shy, Sindhu...> ;Journal of the Peripheral Nervous System. 2023 Sep 1
• 11 citations
  Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other t...
  Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Adele D'Amico, Sonia Messina, Riccardo Masson, Valeria Ada Sansone, Maria Alice Donati, Cat...> ;Eclinicalmedicine. 2023 May 1
• 1 citations
  Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
  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...> ;Brain. 2023 Sep 1
• 7 citations
  Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
  Richard S Finkel, Basil T Darras, Jerry R Mendell, John W Day, Nancy L Kuntz, Anne M Connolly, Craig M Zaidman, Thomas O Crawford, Russell J Butterfield, Perry B Shieh...> ;Journal of Neuromuscular Diseases. 2023 Jan 1
• 6 citations
  Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
  Mary M Reilly, David N Herrmann, Davide Pareyson, Steven S Scherer, Richard S Finkel, Stephan Züchner, Joshua Burns, Michael E Shy> ;Annals of Neurology. 2023 May 1
• Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin.
  Svetlana Gorokhova, Joachim Schessl, Yaqun Zou, Michele L Yang, Peter T Heydemann, Robert L Sufit, Katherine Meilleur, Sandra Donkervoort, Livija Medne, Richard S Fink...> ;Med. 2023 Apr 14
• 1 citations
  Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.
  Tong Tong Wu, Richard S Finkel, Carly E Siskind, Shawna M E Feely, Joshua Burns, Mary M Reilly, Francesco Muntoni, Timothy Estilow, Michael E Shy, Sindhu Ramchandren> ;Journal of the Peripheral Nervous System. 2023 Jun 1
• 4 citations
  Data sharing to advance gene-targeted therapies in rare diseases.
  Julie Lekstrom-Himes, Erika F Augustine, Amy Brower, Thomas Defay, Richard S Finkel, Amy L McGuire, Mark W Skinner, Timothy W Yu> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023 Mar 1
• 5 citations
  Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
  Vera Fridman, Stefan Sillau, Jacob Bockhorst, Kaitlin Smith, Isabella Moroni, Emanuela Pagliano, Chiara Pisciotta, Guiseppe Piscosquito, Matilde Laurá, Francesco Munto...> ;Annals of Neurology. 2023 Mar 1
• 19 citations
  Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
  Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlova, Vo...> ;JAMA Neurology. 2022 Oct 1
• 24 citations
  Spinal muscular atrophy.
  Eugenio Mercuri, Charlotte J Sumner, Francesco Muntoni, Basil T Darras, Richard S Finkel> ;Nature Reviews. Disease Primers. 2022 Aug 4
• 1 citations
  Pre-symptomatic spinal muscular atrophy: a proposed nosology.
  Richard S Finkel, Michael Benatar> ;Brain. 2022 Jul 29
• 1 citations
  Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States.
  Basil T Darras, Sabrina Guye, Janine Hoffart, Sophie Schneider, Isaac Gravestock, Ksenija Gorni, Sabine Fuerst-Recktenwald, Renata S Scalco, Richard S Finkel, Darryl C...> ;Muscle & Nerve. 2022 Jul 1
• The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax.
  Aledie Navas Nazario, Fabiola Weber-Guzman, Richard S Finkel, Cooper, F., Felicia I Cooper> ;Cureus. 2022 Jun 1
• 7 citations
  Scientific rationale for a higher dose of nusinersen.
  Richard S Finkel, Monique M Ryan, Samuel Ignacio Pascual Pascual, John W Day, Eugenio Mercuri, Darryl C De Vivo, Richard Foster, Jacqueline Montes, Juliana Gurgel-Gian...> ;Annals of Clinical and Translational Neurology. 2022 Jun 1
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