Leigh Maria Ramos-Platt, MD

Clinical Professor of Neurology and Pediatrics (Clinician Educator)

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Publications

  • Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder Am J Med Genet A. 2024 May; 194(5):e63524. . View in PubMed
  • Early-Onset Late Gadolinium Enhancement is a Prognostic Factor for Duchenne Cardiomyopathy Pediatr Cardiol. 2023 Feb; 44(2):433-440. . View in PubMed
  • Does acute flaccid myelitis cause respiratory failure in children? Pediatr Pulmonol. 2022 03; 57(3):682-685.. View in PubMed
  • Diffuse Anaplastic Wilms Tumor in a Child With LAMA2 -related Muscular Dystrophy J Pediatr Hematol Oncol. 2022 11 01; 44(8):474-478. . View in PubMed
  • Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy Int J Gen Med. 2022; 15:7341-7353. . View in PubMed
  • Characteristics of Upper Extremity Recovery in Acute Flaccid Myelitis: A Case Series Plast Reconstr Surg. 2021 03 01; 147(3):645-655. . View in PubMed
  • Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants Thyroid. 2020 03; 30(3):463-465. . View in PubMed
  • Evaluating RANKL and OPG levels in patients with Duchenne muscular dystrophy Osteoporos Int. 2019 Nov; 30(11):2283-2288. . View in PubMed
  • Quantifying RANKL and OPG levels in healthy children: A large cross-sectional analysis Bone. 2019 10; 127:215-219. . View in PubMed
  • Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Acta Neuropathol. 2017 04; 133(4):517-533. . View in PubMed
  • Left Ventricular Tonic Contraction as a Novel Biomarker of Cardiomyopathy in Duchenne Muscular Dystrophy Pediatr Cardiol. 2016 Apr; 37(4):678-85. . View in PubMed
  • Pediatric Anti-ganglionic Antibody Positive Autonomic Neuropathy: Clinical Presentation and Response to Treatment Pediatr Neurol. 2016 11; 64:72-76. . View in PubMed
  • Treatment of pediatric chronic inflammatory demyelinating polyneuropathy: Challenges, controversies and questions Ann Indian Acad Neurol. 2015 Jul-Sep; 18(3):327-30. . View in PubMed
  • Effectiveness of diffusion tensor imaging in assessing disease severity in Duchenne muscular dystrophy: preliminary study Pediatr Radiol. 2015 Apr; 45(4):582-9. . View in PubMed
  • Exome sequencing for the diagnosis of 46,XY disorders of sex development J Clin Endocrinol Metab. 2015 Feb; 100(2):E333-44. . View in PubMed
  • Repeatability of chemical-shift-encoded water-fat MRI and diffusion-tensor imaging in lower extremity muscles in children AJR Am J Roentgenol. 2014 Jun; 202(6):W567-73. . View in PubMed
  • RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia JAMA Ophthalmol. 2013 Dec; 131(12):1532-40. . View in PubMed
  • Clinical associations of occipital intermittent rhythmic delta activity J Child Neurol. 2012 Apr; 27(4):503-6. . View in PubMed