AmyDeniseHarperMD

PubMed

• 1 citations
  Factors Influencing Receipt and Type of Therapy Services in the NICU.
  Christiana D Butera, Shaaron E Brown, Jennifer Burnsed, Jodi Darring, Amy D Harper, Karen D Hendricks-Muñoz, Megan Hyde, Audrey E Kane, Meagan R Miller, Richard D Stev...> ;Behavioral Sciences. 2023 Jun 7
• 2 citations
  Effect of a NICU to Home Physical Therapy Intervention on White Matter Trajectories, Motor Skills, and Problem-Solving Skills of Infants Born Very Preterm: A Case Series.
  Christiana Dodd Butera, Claire Rhee, Claire E Kelly, Thijs Dhollander, Deanne K Thompson, Jessica Wisnowski, Rebecca M Molinini, Barbara Sargent, Natasha Lepore, Greg ...> ;Journal of Personalized Medicine. 2022 Dec 7
• 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
• Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
  Kevin Babu, Kimberly Seamon, Ann Jewell, Anna Harrison, Amy Harper, Hind Al Saif, Natario Couser> ;Ophthalmic Genetics. 2023 Aug 1
• 6 citations
  TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.
  Arens Taga, Benedikt Goretzki, Thomas Q Gallagher, Ann Ritter, Amy Harper, Thomas O Crawford, Ute A Hellmich, Charlotte J Sumner, Brett A McCray, Peyton, M.> ;Annals of Clinical and Translational Neurology. 2022 Mar 1
• Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
  Darina Dinov, Gregory Vorona, Amy Harper> ;Neurology. 2021 Jun 29
• 1 citations
  Longitudinal Changes in the Sensorimotor Pathways of Very Preterm Infants During the First Year of Life With and Without Intervention: A Pilot Study.
  Sonia Khurana, Megan Evans, Claire E. Kelly, Deanne K. Thompson, Jennifer Burnsed, Amy Harper, Karen D. Hendricks-Muñoz, Mary S. Shall, Richard D. Stevenson, Ketaki In...> ;Developmental Neurorehabilitation. 2021 Jun 23
• 2 citations
  Aggressive vertebral hemangioma masquerading as neurological disease in a pediatric patient.
  Divya Sahajwalla, Gregory Vorona, Gary W. Tye, Amy Harper, Hope Richard, India Sisler, Michele Ellett, Brian Cameron, Dennis J. Rivet, Jacqueline A. Urbine> ;Radiology Case Reports. 2021 Mar 1
• 11 citations
  Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy
  Christopher R. Heier, Aiping Zhang, Nhu Y. Nguyen, Christopher B. Tully, Aswini Panigrahi, Heather Gordish-Dressman, Sachchida Nand Pandey, Michela Guglieri, Monique M...> ;Journal of Personalized Medicine. 2020 Nov 19
• 11 citations
  The CINRG Becker Natural History Study: Baseline characteristics
  Paula R. Clemens, Gabriela Niizawa, Jia Feng, Julaine Florence, Andrea Smith DʼAlessandro, Lauren P. Morgenroth, Ksenija Gorni, Michela Guglieri, Anne M. Connolly, Mat...> ;Muscle & Nerve. 2020 Sep 1
• 17 citations
  Efficacy of Supporting Play Exploration and Early Development Intervention in the First Months of Life for Infants Born Very Preterm: 3-Arm Randomized Clinical Trial P...
  Stacey C. Dusing, Jennifer Burnsed, Shaaron E Brown, Amy Harper, Karen D. Hendricks-Muñoz, Richard D. Stevenson, Leroy R. Thacker, Rebecca M. Molinini> ;Physical Therapy. 2020 Aug 12
• 114 citations
  Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial.
  Paula R. Clemens, Vamshi K. Rao, Anne M. Connolly, Amy Harper, Jean K. Mah, Edward C. Smith, Craig M. McDonald, Craig M. Zaidman, Lauren P. Morgenroth, Hironori Osaki,...> ;JAMA Neurology. 2020 Aug 1
• 25 citations
  MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
  Sandra Donkervoort, Rasha Sabouny, Pomi Yun, Laurence Gauquelin, Katherine R. Chao, Ying Hu, I. Al Khatib, Ana Töpf, Payam Mohassel, Beryl B. Cummings, Rupleen Kaur, D...> ;Acta Neuropathologica. 2019 Aug 29
• 56 citations
  Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.
  Payam Mohassel, Océane Landon-Cardinal, A. Reghan Foley, Sandra Donkervoort, Katherine Pak, Colleen E. Wahl, Robert T. Shebert, Amy Harper, Pierre R. Fequiere, Matthew...> ;Neurology(R) Neuroimmunology & Neuroinflammation. 2019 Jan 1
• 6 citations
  A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American.
  Sean C. Dougherty, Amy Harper, Gregory Vorona, Scott R Haines, Al Saif, H., Hind Al Saif> ;Frontiers in Neurology. 2018 Nov 15
• 16 citations
  A multinational study on motor function in early-onset FSHD
  Jean K. Mah, Jia Feng, Marni B. Jacobs, Tina Duong, K. Carroll, Katy de Valle, Cara L. Carty, Lauren P. Morgenroth, Michela Guglieri, Monique M. Ryan, Paula R. Clemens...> ;Neurology. 2018 Apr 10
• 21 citations
  Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy
  Bo Wu, Sapana N. Shah, Peijuan Lu, Lauren E. Bollinger, Anthony Blaeser, Susan Sparks, Amy Harper, Qi L. Lu> ;The American Journal of Pathology. 2018 Apr 1
• 37 citations
  Spinocerebellar ataxia type 29 due to mutations in ITPR1 : a case series and review of this emerging congenital ataxia
  Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy Harper, Julie R. Jones, Benjamin Kamien, Kristin D. Ker...> ;Orphanet Journal of Rare Diseases. 2017 Jun 28
• 38 citations
  KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
  Jessica Duis, Shannon L. Dean, Carolyn D. Applegate, Amy Harper, Rui Xiao, Weimin He, James D. Dollar, Lisa R. Sun, Marta Biderman Waberski, Thomas O. Crawford, Ada Ha...> ;Annals of Neurology. 2016 Aug 24
• 13 citations
  Autosomal recessive MFN2‐related Charcot‐Marie‐Tooth disease with diaphragmatic weakness: Case report and literature review
  Christopher A. Tan, Marina Rabideau, Amy Blevins, Marjorie Jody Westbrook, Tali Ekstein, Keith Nykamp, Anne Deucher, Amy Harper, Laurie Demmer> ;American Journal of Medical Genetics. Part A. 2016 Jun 1
• 21 citations
  Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle...
  Bo Wu, Sapana N. Shah, Peijuan Lu, Stephanie M. Richardson, Lauren E. Bollinger, Anthony Blaeser, Kyle Madden, Yubo Sun, Taylor M. Luckie, Michael Cox, Susan Sparks, A...> ;The American Journal of Pathology. 2016 Jun 1
• 19 citations
  Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation
  Nina Fainberg, Amy Harper, Dmitry Tchapyjnikov, Mohamad A. Mikati> ;Epileptic Disorders. 2016 Mar 1
• 13 citations
  Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
  C. Williams, Yong-hui Jiang, Vandana Shashi, Rebecca Crimian, Kelly Schoch, A. Harper, Duncan McHale, David Goldstein, Slavé Petrovski> ;Clinical Genetics. 2015 Dec 1
• 4 citations
  Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.
  Nivedita U. Jerath, John Kamholz, Tiffany Grider, Amy Harper, Andrea Swenson, Michael E. Shy> ;Muscle & Nerve. 2015 Nov 1
• 5 citations
  La Crosse Virus Encephalitis Preceding Neurosarcoidosis Diagnosed by Brain Biopsy
  Daisuke Kobayashi, Kelly Rouster-Stevens, Amy Harper> ;Pediatrics. 2011 Apr 1
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