Scholars@Duke

• Background
• 

  Education, Training, & Certifications

  • D.P.T., Massachusetts General Hospital 2005
  • M.S., University of North Carolina at Chapel Hill 1992
  • Division Of Physical Therapy, University of North Carolina at Chapel Hill 1984
  • B.S., Ithaca College 1978
• 

  Duke Appointment History

  • Assistant Professor of Orthopaedic Surgery, Orthopaedics, Physical Therapy, Orthopaedics 2009 - 2019
  • Assistant Professor of Community and Family Medicine, Family Medicine and Community Health, Clinical Science Departments 2008 - 2009
  • Clinical Associate in Physical Therapy in the Department of Community and Family Medicine, Orthopaedics, Physical Therapy, Orthopaedics 1997 - 2008
• Expertise
• 

  Subject Headings

  • Adolescent
  • Adult
  • Age Factors
  • Airway Resistance
  • Animals
  • Antibodies
  • Autoantibodies
  • Biological Therapy
  • Biopsy
  • Blotting, Western
  • Bone Density
  • Bone Diseases
  • Bone Diseases, Metabolic
  • CHO Cells
  • Cerebral Palsy
  • Child
  • Child, Preschool
  • Cognition
  • Diagnosis, Differential
  • Enzyme Replacement Therapy
  • Enzyme-Linked Immunosorbent Assay
  • Exercise
  • Exercise Therapy
  • Fractures, Spontaneous
  • Gastroesophageal Reflux
  • Gastrointestinal Diseases
  • Genetic Predisposition to Disease
  • Glucocorticoids
  • Glycogen
  • Glycogen Storage Disease Type II
  • Glycogen Storage Disease Type III
  • Hearing Loss
  • Heart
  • Heart Diseases
  • Humans
  • Image Processing, Computer-Assisted
  • Immune Tolerance
  • Infant
  • Infant, Newborn
  • Language Disorders
  • Liver
  • Lung
  • Magnetic Resonance Imaging
  • Male
  • Mobility Limitation
  • Motor Activity
  • Motor Skills
  • Muscle Weakness
  • Muscle, Skeletal
  • Muscles
  • Muscular Dystrophy, Duchenne
  • Musculoskeletal Abnormalities
  • Musculoskeletal Diseases
  • Mutation
  • Myocardium
  • Neuroimaging
  • Neuromuscular Diseases
  • Nutritional Requirements
  • Observer Variation
  • Oligosaccharides
  • Pain
  • Pain Management
  • Patient Care Management
  • Patient Care Team
  • Phenotype
  • Physical Endurance
  • Physical Therapy Modalities
  • Physical Therapy Specialty
  • Pilot Projects
  • Prognosis
  • Quality of Life
  • Questionnaires
  • Radiography, Thoracic
  • Recombinant Proteins
  • Registries
  • Reproducibility of Results
  • Respiration Disorders
  • Retrospective Studies
  • Speech Disorders
  • Spinal Muscular Atrophies of Childhood
  • Statistics as Topic
  • Survivors
  • Time
  • Time Factors
  • Tongue
  • Treatment Outcome
  • Video Recording
  • X-Rays
  • alpha-Glucosidases
• Research
• 

  Selected Grants

  • Electrical Impedance Myography and Muscle Ultrasound: Longitudinal Measures in Pompe Disease 2016 - 2020
  • GSD III Clinical Data Manuscript Preparation 2019 - 2020
  • Developing a management approach for patients with the "late-onset" Pompe disease GAA variant identified by newborn screening 2018 - 2020
  • A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease awarded by National Institutes of Health 2017 - 2020
  • Respiratory Muscle Training in Individuals With Pompe Disease awarded by National Institutes of Health 2016 - 2019
  • Understanding cognitive and neurological pathologies in infantile Pompe disease 2016 - 2018
  • Role of Whole Body MRI as a Non-Invasive Technique for Characterizing Disease and Treatment Efficacy in Infantile Onset Pompe disease 2016 - 2017
  • Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease 2015 - 2016
  • Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease awarded by Food and Drug Administration 2013 - 2016
  • Clinical Trial Planning in Pompe Disease awarded by National Institutes of Health 2013 - 2014
• 

  External Relationships

  • Amicus Therapeutics
  • AskBio (Actus)
  • Avexis, Inc
  • Biogen Idec Inc.
  • CINRG (Cooperative International Neuromuscular Research Group)
  • Cytokinetics, Inc.
  • Enobia - now Alexion (Alexion bought Enobia)
  • Genzyme Corporation (Sanofi Aventis)
  • IONIS Pharmaceuticals
  • Marcus Foundation
  • NS Pharma - (parent company is Nippon Shinyaku)
  • Pfizer Inc.
  • ReveraGen
  • ReveraGen
  • Robertson Foundation
  • Roivant Sciences
  • Sarepta Therapeutics
  • Valerion Therapeutics
• Publications & Artistic Works
• 

  Selected Publications

  • Academic Articles

    • Khan, Aleena A., Laura E. Case, Mrudu Herbert, Stephanie DeArmey, Harrison Jones, Kelly Crisp, Kanecia Zimmerman, Mai K. ElMallah, Sarah P. Young, and Priya S. Kishnani. “Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.” Genet Med 22, no. 5 (May 2020): 898–907. https://doi.org/10.1038/s41436-019-0738-0.
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    • Khan, Aleena A., Tracy Boggs, Michael Bowling, Stephanie Austin, Mihaela Stefanescu, Laura Case, and Priya S. Kishnani. “Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.” J Inherit Metab Dis 43, no. 3 (May 2020): 549–57. https://doi.org/10.1002/jimd.12190.
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    • Koeberl, Dwight D., Laura E. Case, Ankit Desai, Edward C. Smith, Crista Walters, Sang-Oh Han, Beth L. Thurberg, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.” Mol Genet Metab 129, no. 2 (February 2020): 67–72. https://doi.org/10.1016/j.ymgme.2019.12.008.
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    • Crisp, Kelly D., Laura E. Case, Richard M. Kravitz, Priya S. Kishnani, and Harrison N. Jones. “Training, detraining, and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease.” J Pediatr Rehabil Med 13, no. 1 (2020): 71–80. https://doi.org/10.3233/PRM-190601.
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    • Jones, Harrison N., Maragatha Kuchibhatla, Kelly D. Crisp, Lisa D. Hobson Webb, Laura Case, Milisa T. Batten, Jill A. Marcus, Richard M. Kravitz, and Priya S. Kishnani. “Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): A protocol for a sham-controlled clinical trial.” Mol Genet Metab 127, no. 4 (August 2019): 346–54. https://doi.org/10.1016/j.ymgme.2019.05.001.
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    • Herbert, Mrudu, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren Bailey, Stephanie L. Austin, and Priya S. Kishnani. “Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.” Mol Genet Metab 126, no. 2 (February 2019): 106–16. https://doi.org/10.1016/j.ymgme.2018.08.009.
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    • Case, Laura E., and Julie Coats. “Commentary on "Progression of Ankle Plantarflexion Contractures and Functional Decline in Duchenne Muscular Dystrophy: Implications for Physical Therapy Management".” Pediatr Phys Ther 31, no. 1 (January 2019): 67. https://doi.org/10.1097/PEP.0000000000000574.
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    • Fox, Bianca, Gwendolyn E. Moffett, Clara Kinnison, Grace Brooks, and Laura E. Case. “Physical Activity Levels of Children With Down Syndrome.” Pediatr Phys Ther 31, no. 1 (January 2019): 33–41. https://doi.org/10.1097/PEP.0000000000000556.
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    • Case, Laura E., Susan D. Apkon, Michelle Eagle, Ann Gulyas, Laura Juel, Dennis Matthews, Robbin A. Newton, and Helen F. Posselt. “Rehabilitation Management of the Patient With Duchenne Muscular Dystrophy.” Pediatrics 142, no. Suppl 2 (October 2018): S17–33. https://doi.org/10.1542/peds.2018-0333D.
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    • Trout, Christina J., Laura E. Case, Paula R. Clemens, Alexandra McArthur, Garey Noritz, Marie Ritzo, Kathryn R. Wagner, Elizabeth Vroom, and Annie Kennedy. “A Transition Toolkit for Duchenne Muscular Dystrophy.” Pediatrics 142, no. Suppl 2 (October 2018): S110–17. https://doi.org/10.1542/peds.2018-0333M.
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    • Koeberl, Dwight D., Laura E. Case, Edward C. Smith, Crista Walters, Sang-Oh Han, Yanzhen Li, Wei Chen, et al. “Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.” Mol Ther 26, no. 9 (September 5, 2018): 2304–14. https://doi.org/10.1016/j.ymthe.2018.06.023.
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    • Birnkrant, David J., Katharine Bushby, Carla M. Bann, Benjamin A. Alman, Susan D. Apkon, Angela Blackwell, Laura E. Case, et al. “Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.” Lancet Neurol 17, no. 4 (April 2018): 347–61. https://doi.org/10.1016/S1474-4422(18)30025-5.
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    • Birnkrant, David J., Katharine Bushby, Carla M. Bann, Susan D. Apkon, Angela Blackwell, David Brumbaugh, Laura E. Case, et al. “Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.” Lancet Neurol 17, no. 3 (March 2018): 251–67. https://doi.org/10.1016/S1474-4422(18)30024-3.
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    • Sun, Jessica M., Allen W. Song, Laura E. Case, Mohamad A. Mikati, Kathryn E. Gustafson, Ryan Simmons, Ricki Goldstein, et al. “Effect of Autologous Cord Blood Infusion on Motor Function and Brain Connectivity in Young Children with Cerebral Palsy: A Randomized, Placebo-Controlled Trial.” Stem Cells Transl Med 6, no. 12 (December 2017): 2071–78. https://doi.org/10.1002/sctm.17-0102.
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    • Finkel, Richard S., Eugenio Mercuri, Basil T. Darras, Anne M. Connolly, Nancy L. Kuntz, Janbernd Kirschner, Claudia A. Chiriboga, et al. “Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.” N Engl J Med 377, no. 18 (November 2, 2017): 1723–32. https://doi.org/10.1056/NEJMoa1702752.
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    • Rairikar, Mugdha V., Laura E. Case, Lauren A. Bailey, Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier, Julie Coats, Rachel Gandy, Rebecca Quinones, and Priya S. Kishnani. “Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.” Mol Genet Metab 122, no. 3 (November 2017): 99–107. https://doi.org/10.1016/j.ymgme.2017.09.008.
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    • Funderburg, Sarah E., Hannah E. Josephson, Ashlee A. Price, Maredith A. Russo, and Laura E. Case. “Interventions for Gait Training in Children With Spinal Cord Impairments: A Scoping Review.” Pediatr Phys Ther 29, no. 4 (October 2017): 342–49. https://doi.org/10.1097/PEP.0000000000000446.
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    • Chan, Justin, Ankit K. Desai, Zoheb B. Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D. Hobson-Webb, Laura E. Case, Harrison N. Jones, and Priya S. Kishnani. “The emerging phenotype of late-onset Pompe disease: A systematic literature review.” Mol Genet Metab 120, no. 3 (March 2017): 163–72. https://doi.org/10.1016/j.ymgme.2016.12.004.
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    • Austin, Stephanie L., Andrew Chiou, Baodong Sun, Laura E. Case, Kenny Govendrageloo, Perrin Hansen, and Priya S. Kishnani. “Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.” Mol Genet Metab 120, no. 1–2 (January 2017): 96–100. https://doi.org/10.1016/j.ymgme.2016.09.006.
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    • Phillips, Dawn, Laura E. Case, Donna Griffin, Kim Hamilton, Sergio Lerma Lara, Beth Leiro, Jessica Monfreda, Elaine Westlake, and Priya S. Kishnani. “Physical therapy management of infants and children with hypophosphatasia.” Mol Genet Metab 119, no. 1–2 (September 2016): 14–19. https://doi.org/10.1016/j.ymgme.2016.06.010.
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    • Jones, Harrison N., Kelly D. Crisp, Randall R. Robey, Laura E. Case, Richard M. Kravitz, and Priya S. Kishnani. “Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.” Mol Genet Metab 117, no. 2 (February 2016): 120–28. https://doi.org/10.1016/j.ymgme.2015.09.003.
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    • Case, Laura E., Julie Coats, and Ryan M. Draper. “Commentary on "Supported Standing in Boys With Duchenne Muscular Dystrophy".” Pediatr Phys Ther 28, no. 3 (2016): 330–31. https://doi.org/10.1097/PEP.0000000000000286.
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    • McIntosh, Paul T., Laura E. Case, Justin M. Chan, Stephanie L. Austin, and Priya Kishnani. “Characterization of gait in late onset Pompe disease.” Mol Genet Metab 116, no. 3 (November 2015): 152–56. https://doi.org/10.1016/j.ymgme.2015.09.001.
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    • Petrovski, Slavé, Vandana Shashi, Steven Petrou, Kelly Schoch, Keisha Melodi McSweeney, Ryan S. Dhindsa, Brian Krueger, et al. “Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.” Cold Spring Harb Mol Case Stud 1, no. 1 (October 2015): a000257. https://doi.org/10.1101/mcs.a000257.
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    • Shashi, Vandana, Slavé Petrovski, Kelly Schoch, Rebecca Crimian, Laura E. Case, Roha Khalid, Maysantoine A. El-Dairi, Yong-Hui Jiang, Mohamad A. Mikati, and David B. Goldstein. “Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.” Cold Spring Harb Mol Case Stud 1, no. 1 (October 2015): a000265. https://doi.org/10.1101/mcs.a000265.
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    • Horvath, Jeffrey J., Stephanie L. Austin, Laura E. Case, Karla B. Greene, Harrison N. Jones, Brian J. Soher, Priya S. Kishnani, and Mustafa R. Bashir. “Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.” Muscle Nerve 51, no. 5 (May 2015): 722–30. https://doi.org/10.1002/mus.24437.
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    • Hobson-Webb, Lisa D., Stephanie L. Austin, Sneha Jain, Laura E. Case, Karla Greene, and Priya S. Kishnani. “Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.” Am J Case Rep 16 (April 3, 2015): 196–201. https://doi.org/10.12659/AJCR.893309.
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    • Case, Laura E., and Andrea S. Hartzell. “Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study".” Pediatr Phys Ther 27, no. 3 (2015): 235. https://doi.org/10.1097/PEP.0000000000000160.
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    • Case, Laura, D. E. Thorpe, and M. A. Reilly. “The Effects of an Aquatic Resistive Exercise Program on Leg Strength, Balance, Energy Expenditure, Functional Mobility and Self-Perception in Children and Young Adults with Cerebral Palsy.” Aquatic Physical Therapy 13, no. 2 (2015): 21–34.
    • Englander, Zoë A., Jessica Sun, Jessica Laura Case, Mohamad A. Mikati, Joanne Kurtzberg, and Allen W. Song. “Brain structural connectivity increases concurrent with functional improvement: evidence from diffusion tensor MRI in children with cerebral palsy during therapy.” Neuroimage Clin 7 (2015): 315–24. https://doi.org/10.1016/j.nicl.2015.01.002.
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    • McNamara, Erin R., Stephanie Austin, Laura Case, John S. Wiener, Andrew C. Peterson, and Priya S. Kishnani. “Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease.” Jimd Rep 20 (2015): 5–10. https://doi.org/10.1007/8904_2014_381.
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    • Bushby, Katharine, Richard Finkel, Brenda Wong, Richard Barohn, Craig Campbell, Giacomo P. Comi, Anne M. Connolly, et al. “Ataluren treatment of patients with nonsense mutation dystrophinopathy.” Muscle Nerve 50, no. 4 (October 2014): 477–87. https://doi.org/10.1002/mus.24332.
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    • Koeberl, Dwight D., Stephanie Austin, Laura E. Case, Edward C. Smith, Anne F. Buckley, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.” Faseb J 28, no. 5 (May 2014): 2171–76. https://doi.org/10.1096/fj.13-241893.
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    • Jones, Harrison N., Kelly D. Crisp, Tronda Moss, Katherine Strollo, Randy Robey, Jeffrey Sank, Michelle Canfield, et al. “Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.” J Pediatr Rehabil Med 7, no. 3 (2014): 255–65. https://doi.org/10.3233/PRM-140294.
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    • Krosschell, Kristin J., Jo Anne Maczulski, Charles Scott, Wendy King, Jill T. Hartman, Laura E. Case, Donata Viazzo-Trussell, et al. “Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.” Pediatr Phys Ther 25, no. 2 (2013): 140–48. https://doi.org/10.1097/PEP.0b013e31828a205f.
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    • Horvath, Jeffrey J., Stephanie L. Austin, Harrison N. Jones, Elizabeth J. Drake, Laura E. Case, Brian J. Soher, Mustafa R. Bashir, and Priya S. Kishnani. “Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.” Mol Genet Metab 107, no. 3 (November 2012): 496–500. https://doi.org/10.1016/j.ymgme.2012.09.025.
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    • Prater, Sean N., Suhrad G. Banugaria, Stephanie M. DeArmey, Eleanor G. Botha, Erin M. Stege, Laura E. Case, Harrison N. Jones, et al. “The emerging phenotype of long-term survivors with infantile Pompe disease.” Genet Med 14, no. 9 (September 2012): 800–810. https://doi.org/10.1038/gim.2012.44.
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    • Patel, Trusha T., Suhrad G. Banugaria, Laura E. Case, Stephan Wenninger, Benedikt Schoser, and Priya S. Kishnani. “The impact of antibodies in late-onset Pompe disease: a case series and literature review.” Mol Genet Metab 106, no. 3 (July 2012): 301–9. https://doi.org/10.1016/j.ymgme.2012.04.027.
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    • Markert, Chad D., Laura E. Case, Gregory T. Carter, Patricia A. Furlong, and Robert W. Grange. “Exercise and Duchenne muscular dystrophy: where we have been and where we need to go.” Muscle Nerve 45, no. 5 (May 2012): 746–51. https://doi.org/10.1002/mus.23244.
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    • Spiridigliozzi, Gail A., James H. Heller, Laura E. Case, Harrison N. Jones, and Priya S. Kishnani. “Early cognitive development in children with infantile Pompe disease.” Mol Genet Metab 105, no. 3 (March 2012): 428–32. https://doi.org/10.1016/j.ymgme.2011.10.012.
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    • Case, Laura E., Alexandra A. Beckemeyer, and Priya S. Kishnani. “Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 69–79. https://doi.org/10.1002/ajmg.c.31321.
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    • Messinger, Yoav H., Nancy J. Mendelsohn, William Rhead, David Dimmock, Eli Hershkovitz, Michael Champion, Simon A. Jones, et al. “Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.” Genet Med 14, no. 1 (January 2012): 135–42. https://doi.org/10.1038/gim.2011.4.
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    • Roberts, Mark, Priya S. Kishnani, Ans T. van der Ploeg, Wolfgang Müller-Felber, Luciano Merlini, Suyash Prasad, and Laura E. Case. “The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.” Mol Genet Metab 104, no. 4 (December 2011): 574–82. https://doi.org/10.1016/j.ymgme.2011.08.011.
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    • Byrne, B. J., P. S. Kishnani, L. E. Case, L. Merlini, W. Müller-Felber, S. Prasad, and A. van der Ploeg. “Erratum to "Pompe disease: Design, methodology, and early findings from the Pompe Registry" [Mol. Genet. Metabol. 103 (2011) 1-11].” Molecular Genetics and Metabolism 104, no. 3 (November 1, 2011): 424. https://doi.org/10.1016/j.ymgme.2011.06.005.
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    • Byrne, Barry J., Priya S. Kishnani, Laura E. Case, Luciano Merlini, Wolfgang Müller-Felber, Suyash Prasad, and Ans van der Ploeg. “Pompe disease: design, methodology, and early findings from the Pompe Registry.” Mol Genet Metab 103, no. 1 (May 2011): 1–11. https://doi.org/10.1016/j.ymgme.2011.02.004.
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    • Jones, Harrison N., Carolyn W. Muller, Min Lin, Suhrad G. Banugaria, Laura E. Case, Jennifer S. Li, Gwendolyn O’Grady, James H. Heller, and Priya S. Kishnani. “Oropharyngeal dysphagia in infants and children with infantile Pompe disease.” Dysphagia 25, no. 4 (December 2010): 277–83. https://doi.org/10.1007/s00455-009-9252-x.
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    • Kishnani, P. S., S. L. Austin, P. Arn, D. S. Bali, A. Boney, and L. E. Case. “Glycogen storage disease type III diagnosis and management guidelines (vol 12, pg 446, 2010).” Genetics in Medicine 12, no. 9 (September 1, 2010): 566–566.
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    • Kishnani, Priya S., Stephanie L. Austin, Pamela Arn, Deeksha S. Bali, Anne Boney, Laura E. Case, Wendy K. Chung, et al. “Glycogen storage disease type III diagnosis and management guidelines.” Genet Med 12, no. 7 (July 2010): 446–63. https://doi.org/10.1097/GIM.0b013e3181e655b6.
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    • Bushby, Katharine, Richard Finkel, David J. Birnkrant, Laura E. Case, Paula R. Clemens, Linda Cripe, Ajay Kaul, et al. “Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.” Lancet Neurol 9, no. 2 (February 2010): 177–89. https://doi.org/10.1016/S1474-4422(09)70272-8.
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    • Case, Laura E., Dwight D. Koeberl, Sarah P. Young, Deeksha Bali, Stephanie M. DeArmey, Joanne Mackey, and Priya S. Kishnani. “Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.” Mol Genet Metab 95, no. 4 (December 2008): 233–35. https://doi.org/10.1016/j.ymgme.2008.09.001.
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    • Case, Laura E., Rabi Hanna, Donald P. Frush, Vidya Krishnamurthy, Stephanie DeArmey, Joanne Mackey, Anne Boney, et al. “Fractures in children with Pompe disease: a potential long-term complication.” Pediatr Radiol 37, no. 5 (May 2007): 437–45. https://doi.org/10.1007/s00247-007-0428-y.
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    • Kishnani, P. S., R. D. Steiner, D. Bali, K. Berger, B. J. Byrne, L. E. Case, J. F. Crowley, et al. “Erratum: Pompe disease diagnosis and management guidelines (Genetics in Medicine (May 2006) 8 (267-288)).” Genetics in Medicine 8, no. 6 (June 1, 2006): 382. https://doi.org/10.1097/00125817-200606000-00008.
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    • Case, Laura Elizabeth, and Priya Sunil Kishnani. “Physical therapy management of Pompe disease.” Genet Med 8, no. 5 (May 2006): 318–27. https://doi.org/10.1097/01.gim.0000217789.14470.c5.
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    • Kishnani, Priya S., Robert D. Steiner, Deeksha Bali, Kenneth Berger, Barry J. Byrne, Laura E. Case, John F. Crowley, et al. “Pompe disease diagnosis and management guideline.” Genet Med 8, no. 5 (May 2006): 267–88. https://doi.org/10.1097/01.gim.0000218152.87434.f3.
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    • Schlough, Kathleen, Deborah Nawoczenski, Laura E. Case, Karen Nolan, and Janet K. Wigglesworth. “The effects of aerobic exercise on endurance, strength, function and self-perception in adolescents with spastic cerebral palsy: a report of three case studies.” Pediatr Phys Ther 17, no. 4 (2005): 234–50. https://doi.org/10.1097/01.pep.0000186508.35880.6c.
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    • Amalfitano, A., A. R. Bengur, R. P. Morse, J. M. Majure, L. E. Case, D. L. Veerling, J. Mackey, et al. “Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.” Genet Med 3, no. 2 (March 2001): 132–38.
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  • Book Sections

    • Case, Laura. “Physical Therapy and Orthotic Devices.” In Muscular Dystrophy A Concise Guide. Springer, 2015.

  • Conference Papers

    • Hannah, William B., Laura E. Case, Crista Walters, Priya S. Kishnani, and Dwight D. Koeberl. “SUMMARY OF SCREENING DATA FROM 19 PATIENTS WITH LATE-ONSET POMPE DISEASE FOR A PHASE I CLINICAL TRIAL OF AAV VECTOR-MEDIATED GENE THERAPY.” In Molecular Genetics and Metabolism, 126:305–6. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.
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    • Ploeg, A. van der, C. Angelini, P. S. Kishnani, H. Amartino, W. Müller-Felber, M. E. Kruijshaar, Z. Devecseri, T. Miller, A. Wilson, and L. E. Case. “P.17.5 Analysis of motor assessments administered at treatment initiation for patients in the pompe registry.” In Neuromuscular Disorders, 23:827–28. Elsevier BV, 2013. https://doi.org/10.1016/j.nmd.2013.06.655.
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    • Prater, S. N., S. G. Banugaria, L. E. Case, J. F. Mackey, M. M. Canfield, S. L. DeArmey, and P. S. Kishnani. “The emerging phenotype of long-term infantile Pompe survivors on enzyme replacement therapy.” In Molecular Genetics and Metabolism, 102:250–250. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2011.
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    • Case, Laura, Sean Prater, Ramona Rodriguiz, Amy Pastva, Andrea Taylor, Priya Kishnani, and Dwight Koeberl. “The effect of exercise on improving strength and function in a Pompe mouse model treated with AAV vector mediated gene therapy.” In Molecular Genetics and Metabolism, 102:S10–S10. Elsevier BV, 2011. https://doi.org/10.1016/j.ymgme.2010.11.033.
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    • Cupler, Edward J., Barry J. Byrne, Laura E. Case, Angela L. Genge, Priya S. Kishnani, Ying Zhang, and Suyash Prasad. “Analysis of Cardiac Involvement in Children and Adults with Pompe Disease from the Pompe Registry.” In Neurology, 74:A518–19. LIPPINCOTT WILLIAMS & WILKINS, 2010.
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    • Annane, D., B. J. Byrne, L. E. Case, E. Cupler, A. L. Genge, P. Kishnani, C. Lindberg, et al. “CLINICAL SIGNS AND SYMPTOMS OF POMPE DISEASE IN 143 INFANTILE-ONSET AND 424 LATE-ONSET PATIENTS: A REPORT FROM THE POMPE REGISTRY.” In Clinical Therapeutics, 32:S71–S71. ELSEVIER, 2010.
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    • Hwu, W. -. L., C. -. C. Yang, A. Churchyard, S. Estrada, D. Annane, B. J. Byrne, L. E. Case, et al. “TRACKING POMPE DISEASE SYMPTOMS IN A BROAD PATIENT POPULATION THROUGH THE POMPE REGISTRY: A COMPARISON BETWEEN PATIENTS IN THE ASIA-PACIFIC REGION AND THE REST OF THE WORLD.” In Clinical Therapeutics, 32:S75–76. ELSEVIER, 2010.
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    • Kishnani, P., D. Annane, B. J. Byrne, L. E. Case, E. Cupler, A. L. Genge, C. Lindberg, et al. “DIAGNOSIS OF POMPE DISEASE: TIMING AND METHODS USED AS REPORTED TO THE POMPE REGISTRY.” In Clinical Therapeutics, 32:S78–S78. ELSEVIER, 2010.
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    • Merlini, L., D. Annane, B. J. Byrne, L. E. Case, E. Cupler, A. L. Genge, P. Kishnani, et al. “AN EXPLORATORY ANALYSIS OF SCOLIOSIS IN 182 CHILDREN AND ADULTS WITH POMPE DISEASE FROM THE POMPE REGISTRY.” In Clinical Therapeutics, 32:S79–S79. ELSEVIER, 2010.
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    • Tolun, A. A., K. F. Boyd, S. L. Austin, S. M. Vertilus, L. E. Case, S. B. Wechsler, D. S. Millington, D. Bali, S. P. Young, and P. S. Kishnani. “UTILITY OF A URINARY TETRASACCHARIDE AS A BIOMARKER FOR GLYCOGEN STORAGE DISEASE TYPE III.” In Molecular Genetics and Metabolism, 98:39–39. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2009.
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    • Kishnani, Priya, Barry Byrne, Laura Case, and Timothy Miller. “75. Clinical signs and symptoms of Pompe disease in 120 infantile-onset and 373 late-onset patients: A report from the Pompe Registry.” In Molecular Genetics and Metabolism, 96:S28–S28. Elsevier BV, 2009. https://doi.org/10.1016/j.ymgme.2008.11.076.
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    • Merlini, L., P. Kishnani, B. Byrne, W. Müller-Felber, L. Case, and A. V. D. Ploeg. “The Pompe Registry: Centralized Data Collection to Track the Natural Course of Pompe Disease.” In Clinical Therapeutics, Vol. 30, 2008. https://doi.org/10.1016/S0149-2918(08)80031-8.
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    • Kishnani, Priya, Barry Byrne, Laura Case, Luciano Merlini, Wolfgang Mueller-Felber, Kathleen Melia, Christopher Dandrea, and Ans van der Ploeg. “53. The Pompe Registry: Centralized data collection to track the natural course of Pompe disease.” In Molecular Genetics and Metabolism, 93:27–27. Elsevier BV, 2008. https://doi.org/10.1016/j.ymgme.2007.10.065.
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    • Marsden, Deborah, Kenneth Berger, Ans van der Ploeg, Laura Case, Christopher Dandrea, Priya Kishnani, and Edward Giannini. “66. Development of a disease severity scoring system for patients with Pompe disease.” In Molecular Genetics and Metabolism, 93:30–31. Elsevier BV, 2008. https://doi.org/10.1016/j.ymgme.2007.10.078.
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    • Case, Laura, A. Hartzell, and J. Coats. “VBP15-0002, -003, -Long term extension study – Lessons Learned at Duke - Vamorolone,” n.d.
    • Case, Laura, C. Senesac, T. Duong, and L. Vogel. “Physical Therapy Management of Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura, P. Kishani, and A. van der Ploeg. “The Pompe Registry: Centralized Data Collection to Outline the Natural Course of Pompe Disease,” n.d.
    • Case, Laura, T. Boggs, and E. Nixon. “Physical Therapy and Assistive Devices: an Interactive Equipment Session at the Annual Adult Late Onset, and Panel on stretching, exercise, function, equipment, and advocacy for funding,” n.d.
    • Case, Laura, and C. Senesac. “Addressing Lifelong Physical Therapy in Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura, and J. Coats. “Addressing Life Long Physical Therapy Needs in Boys with Duchenne Muscular Dystrophy (DMD) - The Changing Landscape Across the Life Span: A Fresh Look.,” n.d.
    • Case, Laura, and Karen McCulloch. “Panel,” n.d.
    • Case, Laura, and L. Vogel. “Addressing Life Long Physical Therapy Needs in Boys with Duchenne Muscular Dystrophy (DMD) - The Changing Landscape Across the Life Span: A Fresh Look.,” n.d.
    • Case, Laura, and L. Vogel. “Addressing Lifelong Physical Therapy in Duchenne Muscular Dystrophy.,” n.d.
    • Case, Laura, and T. Boggs. “Practical Aspects of Physical Therapy in Late-Onset Pompe Disease,” n.d.
    • Case, Laura. “Physical Therapy Management of Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Across the Lifespan for Individuals with Duchenne Muscular Dystrophy. The Changing Landscape. Parent Project Muscular Dystrophy,” n.d.
    • Case, Laura. “Addressing Life-Long Physical Therapy and Occupational Therapy Needs in Individuals with Duchenne Muscular Dystrophy (DMD): The Changing Landscape Across the Life Span: A Fresh Look Parent Project Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Pompe Disease,” n.d.
    • Case, Laura. “Advocacy for Patient Success,” n.d.
    • Case, Laura. “Facioscapulohumeral Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy and Assistive Devices in Management of Pompe Disease.,” n.d.
    • Case, Laura. “Physical Therapy Management of Duchenne Muscular Dystrophy.,” n.d.
    • Case, Laura. “Physical Therapy and Assistive Devices.,” n.d.
    • Case, Laura. “The Role of Physical Therapy in the Diagnosis and Management of Hypophosphatasia.,” n.d.
    • Case, Laura. “Infantile Onset Pompe Disease: Emerging Phenotype and Physical Therapy Management.,” n.d.
    • Case, Laura. “Addressing Lifelong Physical Therapy in Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Duchenne/Becker Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy, Exercise Considerations, and Assistive Devices in Pompe Disease,” n.d.
    • Case, Laura. “Physical Therapy Management of Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy for the Pediatric Neuromuscular Patient,” n.d.
    • Case, Laura. “Physical Therapy and Assistive Devices,” n.d.
    • Case, Laura. “Exercise and Neuromuscular Disorders,” n.d.
    • Case, Laura. “Physical Therapy and Adaptive Equipment in Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management, Exercise, and Adaptive Equipment,” n.d.
    • Case, Laura. “Physical Therapy Management and Exercise in Pompe Disease,” n.d.
    • Case, Laura. “Physical Therapy Management of Pompe Disease,” n.d.
    • Case, Laura. “Workshop on Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physiotherapy in Pompe Disease,” n.d.
    • Case, Laura. “Late Onset Pompe Disease: The Role of Exercise and Physical Therapy,” n.d.
    • Case, Laura. “Workshop on Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “The Role of PT and Exercise in Pompe Disease,” n.d.
    • Case, Laura. “Physical Therapy Management of Pompe Disease,” n.d.
    • Case, Laura. “Physical Therapy Management of Progressive Neuromuscular Disorders in the Age of Translational Science,” n.d.
    • Case, Laura. “Physical Therapy Management of Pompe Disease.,” n.d.
    • Case, Laura. “Workshop on Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “The Expanding World of Intervention in the Genomic Era: Emerging therapies for neuromuscular, neurological, and metabolic disorders,” n.d.
    • Case, Laura. “Physical Therapy Management of Children with Progressive Neuromuscular Disorders Across the Lifespan,” n.d.
    • Case, Laura. “Cerebral Palsy – Autologous Cord Blood (CP-AC) Study - Outcome Measures,” n.d.
    • Case, Laura. “Physical Therapy Management of Pompe Disease,” n.d.
    • Case, Laura. “Comprehensive Care for the Patient with Pompe,” n.d.
    • Case, Laura. “Workshop on Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “The Importance of Assessment and Therapy for Pulmonary and Skeletal Manifestations in Late Onset Pompe Disease,” n.d.
    • Case, Laura. “Physical Therapy in Glycogen Storage Diseases,” n.d.
    • Case, Laura. “Workshop on Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Pompe Disease in the Era of Enzyme Replacement and Emerging Therapies - expanding knowledge and future research,” n.d.
    • Case, Laura. “Physical Therapy Management of Motor Unit Diseases,” n.d.
    • Case, Laura. “Seating and Equipment in Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Late Onset Pompe Disease: Physical Therapy and Exercise,” n.d.
    • Case, Laura. “Infantile Onset Pompe Disease: Physiotherapy,” n.d.
    • Case, Laura. “Late-Onset Pompe Disease and Exercise,” n.d.
    • Case, Laura. “Let’sKeepMoving! Exercise In Individuals with Muscle GSD’s,” n.d.
    • Case, Laura. “GSD III – debrancher deficiency (Cori’s disease, Forbes disease) – Musculoskeletal Manifestations / Physical Therapy,” n.d.
    • Case, Laura. “Workshop on Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “The Disease Severity Scoring System: Application and Discussion of Cases - Lysosomal Storage Disorders,” n.d.
    • Case, Laura. “Physical Therapy Assessment and Intervention in The Era of Enzyme Replacement and Emerging Therapies,” n.d.
    • Case, Laura. “Exercise and Pompe Disease –United Pompe Foundation,” n.d.
    • Case, Laura. “Physical Therapy Update in GSD's - Association for Glycogen Storage Disease,” n.d.
    • Case, Laura. “Neuromuscular Assessment and Management and Muscular Functional Assessment, PT and Rehabilitation in Infants, Children and Adults,” n.d.
    • Case, Laura. “Workshop on Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Motor Unit Diseases,” n.d.
    • Case, Laura. “Sensory Processing in Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Musculoskeletal / Functional / Rehabilitation Recommendations - for Infants, Juveniles, and Adults,” n.d.
    • Case, Laura. “Physical Therapy Management of Dystrophinopathies – (Duchenne / Becker Muscular Dystrophy),” n.d.
    • Case, Laura. “Physical Therapy Management of Dystrophinopathies – (Duchenne / Becker Muscular Dystrophy),” n.d.
    • Case, Laura. “Physical Therapy Management of Motor Unit Diseases,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “School Based Therapy for Children with Progressive Disorders,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Lysosomal Storage Diseases,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Pompe Disease,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Management of Spasticity - Role of Physical Therapy,” n.d.
    • Case, Laura. “Muscular Dystrophy – Prognosis and Intervention Strategies,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Muscular Dystrophy,” n.d.
    • Case, Laura. “Hemiplegia Secondary to "Prenatal Stroke",” n.d.
    • Case, Laura. “Pediatric Casting and Orthotics,” n.d.
    • Case, Laura. “Physical Therapy Management of Spinal Muscular Atrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Duchenne Muscular Dystrophy – Workshops,” n.d.
    • Case, Laura. “Physical Therapy Management of Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Normal and Abnormal Motor Development and Early Intervention,” n.d.
    • Case, Laura. “Physical Therapy in the Trisomies,” n.d.
    • Case, Laura. “Anatomy Review – The Shoulder,” n.d.
    • Case, Laura. “Postural Support Mechanisms in Pediatrics,” n.d.
    • Case, Laura. “Pediatric Assessment in Neurological Dysfunction,” n.d.
    • Case, Laura. “Human Anatomy Review for Pediatric Physical Therapists,” n.d.
    • Case, Laura. “Anatomy Review for Physical Therapists and Related Medical Health Professionals,” n.d.
    • Case, Laura. “Physical Therapy Management of Ataxia Telangiectasia,” n.d.
    • Case, Laura. “Physical Therapy Management of Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Gross Anatomy Review Series for Physical Therapists,” n.d.
    • Case, Laura. “Anatomy for Physical Therapists and Related Health Professionals,” n.d.
    • Case, Laura. “Issues in Motor Development,” n.d.
    • Case, Laura. “Physical Therapy Management of Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Physical Therapy Management of Duchenne Muscular Dystrophy,” n.d.
    • Case, Laura. “Effect of Orthoses on Posture and Balance,” n.d.
    • Case, Laura. “Anatomy Review Series for Physical Therapists and Related Medical Allied Health Professionals,” n.d.
    • Case, Laura. “Anatomy for Physical Therapists and Related Medical Allied Health Professionals,” n.d.
    • Case, Laura. “Inhibitive Casting and Orthotics as an Adjunct to Physical Therapy,” n.d.
    • Case, Laura. “Physical Therapy Management of Motor Unit Diseases,” n.d.
    • Case, Laura. “Anatomy for Physical Therapists and Related Medical Allied Health Professionals,” n.d.
    • Case, Laura. “Pediatric Physical Therapy Lecture Series,” n.d.
    • Case, Laura. “Anatomy for Physical Therapists and Related Medical Allied Health Professionals,” n.d.
    • Case, Laura. “Casting/Orthotic Considerations for the Acute Neurological Patient,” n.d.
    • Case, Laura. “Anatomy for Physical Therapists & Related Medical Allied Health Professionals,” n.d.
    • Case, Laura. “Anatomy for Physical Therapists & Related Medical Allied Health Professionals,” n.d.
    • Case, Laura. “Anatomy for Physical Therapists and Related Medical Allied Health Professionals,” n.d.
    • Case, Laura. “The Pediatric Foot,” n.d.
    • Case, Laura. “Considerations in pediatric physical therapy - Malformation/Deformation,” n.d.
    • Case, Laura. “The Role of Exercise in the Management of Pompe Disease,” n.d.
    • Champigneulle, A., M. Whyte, C. Rockman-Greenberg, P. Kishani, Laura Case, J. Mayhew, V. Lim, C. S. Siener, and A. Mhanni. “Fracture burden in children and adults with hypophosphatasia,” n.d.
    • Csete, K., M. Jackson, C. Myers, J. Miller, Adam Goode, and L. Case. “The Effects of Early Sport Specialization on Overuse Injuries in the Pediatric Population: a Systematic Review.,” n.d.
    • Daly, S. B., Laura Case, A. Pastva, Songtao Li, S. Prater, D. D. Koeberl, P. S. Kishani, and A. B. Taylor. “Effect of exercise on hindlimb muscle architecture in a pompe mouse model,” n.d.
    • Feld, Jody, L. Case, A. Clay, A. Thomas, M. Atkinson, and J. Gleeson. “Interdisciplinary Community-Based Education Program on Disability – An Adaptive Sports Experience.,” n.d.
    • Holland, M., C. Matthews, A. McGinty, M. Ramsey, Adam Goode, L. Ledbetter, and L. Case. “Physiologic Stability of Intubated Pre-term Infants Receiving Skin-to-skin Care in the Neonatal Intensive Care Unit: A Systematic Review,” n.d.
    • Krishnamurthy, V., R. Hanna, J. M. Mackey, S. Dearmy, Laura Case, T. Weber, and P. Kishani. “Osteopenia in Pompe Disease: A Case Series Presentation,” n.d.
    • Thorpe, D. E., M. Reilly, Laura Case, A. B. Glenn, M. L. Hubbard, K. Ollendick, and K. E. Petersen. “The Effects of Aquatic Resistive Exercise on Lower Extremity Strength, Functional Mobility, Energy Expenditure, and Perceived Competence in persons with Cerebral Palsy,” n.d.
• Teaching & Mentoring
• 

  Recent Courses

  • PT-D 715: Neurological Patient Management II 2020
  • PT-D 725: Elective I 2020
  • PT-D 726: Elective II 2020
  • PT-D 727: Elective III 2020

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