Laura Elizabeth Case | Scholars@Duke

Laura Elizabeth Case
Assistant Professor of Orthopaedic Surgery

Current Appointments & Affiliations

Assistant Professor of Orthopaedic Surgery, Orthopaedics, Physical Therapy, Orthopaedics 2009

Contact Information

DUMC 104002, 2200 West Main Street, Suite A210, Erwin, Durham, NC 27708
Duke Children's Hospital At Lenox Baker, 3000 Erwin Rd, Durham, NC 27710
case0001@mc.duke.edu (919) 684-5142

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 Community and Family Medicine, Community and Family Medicine, 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
Research
Selected Grants
- 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 late-onset Pompe disease awarded by National Institutes of Health 2016 - 2019
- Electrical Impedance Myography and Muscle Ultrasound: Longitudinal Measures in Pompe Disease awarded by Genzyme Corporation 2016 - 2019
- Understanding cognitive and neurological pathologies in infantile Pompe disease awarded by Genzyme Corporation 2016 - 2018
- Role of Whole Body MRI as a Non-Invasive Technique for Characterizing Disease and Treatment Efficacy in Infantile Onset Pompe disease awarded by Genzyme Corporation 2016 - 2017
- Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease awarded by Roivant Sciences, Inc. 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
Publications & Artistic Works
Selected Publications
- Conference Papers
  - van der Ploeg, A, Angelini, C, Kishnani, PS, Amartino, H, Mueller-Felber, W, Kruijshaar, ME, Devecseri, Z, Miller, T, Wilson, A, and Case, LE. "Analysis of motor assessments administered at treatment initiation for patients in the pompe registry." October 2013. Full Text Link to Item
  - Prater, SN, Banugaria, SG, Case, LE, Mackey, JF, Canfield, MM, DeArmey, SL, and Kishnani, PS. "The emerging phenotype of long-term infantile Pompe survivors on enzyme replacement therapy." March 2011. Link to Item
  - Cupler, EJ, Byrne, BJ, Case, LE, Genge, AL, Kishnani, PS, Zhang, Y, and Prasad, S. "Analysis of Cardiac Involvement in Children and Adults with Pompe Disease from the Pompe Registry." March 2, 2010. Link to Item
  - Annane, D, Byrne, BJ, Case, LE, Cupler, E, Genge, AL, Kishnani, P, Lindberg, C, Mueller-Felber, W, Roberts, ME, van der Ploeg, AT, Zhang, Y, Prasad, S, and Boa, PRNAE. "CLINICAL SIGNS AND SYMPTOMS OF POMPE DISEASE IN 143 INFANTILE-ONSET AND 424 LATE-ONSET PATIENTS: A REPORT FROM THE POMPE REGISTRY." 2010. Link to Item
  - Hwu, W-L, Yang, C-C, Churchyard, A, Estrada, S, Annane, D, Byrne, BJ, Case, LE, Cupler, E, Genge, AL, Kishnani, P, Lindberg, CC, Mueller-Felber, W, Roberts, ME, van der Ploeg, AT, Rangachari, L, Prasad, S, Amer, PRN, and Advisors, EB. "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." 2010. Link to Item
  - Kishnani, P, Annane, D, Byrne, BJ, Case, LE, Cupler, E, Genge, AL, Lindberg, C, Mueller-Felber, W, Roberts, ME, van der Ploeg, AT, Kong, Y, Miller, T, Prasad, S, Amer, PRN, and Advisors, EB. "DIAGNOSIS OF POMPE DISEASE: TIMING AND METHODS USED AS REPORTED TO THE POMPE REGISTRY." 2010. Link to Item
  - Merlini, L, Annane, D, Byrne, BJ, Case, LE, Cupler, E, Genge, AL, Kishnani, P, Lindberg, C, Mueller-Felber, W, Roberts, ME, van der Ploeg, AT, Rangachari, L, Prasad, S, Amer, PRN, and Advisors, EB. "AN EXPLORATORY ANALYSIS OF SCOLIOSIS IN 182 CHILDREN AND ADULTS WITH POMPE DISEASE FROM THE POMPE REGISTRY." 2010. Link to Item
- Journal Articles
  - Case, LE, Apkon, SD, Eagle, M, Gulyas, A, Juel, L, Matthews, D, Newton, RA, and Posselt, HF. "Rehabilitation Management of the Patient With Duchenne Muscular Dystrophy." Pediatrics 142, no. Suppl 2 (October 2018): S17-S33. Full Text
  - Trout, CJ, Case, LE, Clemens, PR, McArthur, A, Noritz, G, Ritzo, M, Wagner, KR, Vroom, E, and Kennedy, A. "A Transition Toolkit for Duchenne Muscular Dystrophy." Pediatrics 142, no. Suppl 2 (October 2018): S110-S117. Full Text
  - Koeberl, DD, Case, LE, Smith, EC, Walters, C, Han, S-O, Li, Y, Chen, W, Hornik, CP, Huffman, KM, Kraus, WE, Thurberg, BL, Corcoran, DL, Bali, D, Bursac, N, and Kishnani, PS. "Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease." Molecular Therapy : the Journal of the American Society of Gene Therapy 26, no. 9 (September 2018): 2304-2314. Full Text
  - Birnkrant, DJ, Bushby, K, Bann, CM, Alman, BA, Apkon, SD, Blackwell, A, Case, LE, Cripe, L, Hadjiyannakis, S, Olson, AK, Sheehan, DW, Bolen, J, Weber, DR, Ward, LM, and DMD Care Considerations Working Group, . "Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management." The Lancet. Neurology 17, no. 4 (April 2018): 347-361. (Review) Full Text
  - Birnkrant, DJ, Bushby, K, Bann, CM, Apkon, SD, Blackwell, A, Brumbaugh, D, Case, LE, Clemens, PR, Hadjiyannakis, S, Pandya, S, Street, N, Tomezsko, J, Wagner, KR, Ward, LM, Weber, DR, and DMD Care Considerations Working Group, . "Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management." The Lancet. Neurology 17, no. 3 (March 2018): 251-267. (Review) Full Text
  - Sun, JM, Song, AW, Case, LE, Mikati, MA, Gustafson, KE, Simmons, R, Goldstein, R, Petry, J, McLaughlin, C, Waters-Pick, B, Chen, LW, Wease, S, Blackwell, B, Worley, G, Troy, J, and Kurtzberg, J. "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 Translational Medicine 6, no. 12 (December 2017): 2071-2078. Full Text
  - Finkel, RS, Mercuri, E, Darras, BT, Connolly, AM, Kuntz, NL, Kirschner, J, Chiriboga, CA, Saito, K, Servais, L, Tizzano, E, Topaloglu, H, Tulinius, M, Montes, J, Glanzman, AM, Bishop, K, Zhong, ZJ, Gheuens, S, Bennett, CF, Schneider, E, Farwell, W, De Vivo, DC, and ENDEAR Study Group, . "Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy." The New England Journal of Medicine 377, no. 18 (November 2017): 1723-1732. Full Text
  - Rairikar, MV, Case, LE, Bailey, LA, Kazi, ZB, Desai, AK, Berrier, KL, Coats, J, Gandy, R, Quinones, R, and Kishnani, PS. "Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant." Molecular Genetics and Metabolism 122, no. 3 (November 2017): 99-107. Full Text
  - Funderburg, SE, Josephson, HE, Price, AA, Russo, MA, and Case, LE. "Interventions for Gait Training in Children With Spinal Cord Impairments: A Scoping Review." Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 29, no. 4 (October 2017): 342-349. (Review) Full Text
  - Chan, J, Desai, AK, Kazi, ZB, Corey, K, Austin, S, Hobson-Webb, LD, Case, LE, Jones, HN, and Kishnani, PS. "The emerging phenotype of late-onset Pompe disease: A systematic literature review." Molecular Genetics and Metabolism 120, no. 3 (March 2017): 163-172. (Review) Full Text
  - Austin, SL, Chiou, A, Sun, B, Case, LE, Govendrageloo, K, Hansen, P, and Kishnani, PS. "Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation." Molecular genetics and metabolism 120, no. 1-2 (January 2017): 96-100. Full Text Open Access Copy
  - Case, LE, Coats, J, and Draper, RM. "Commentary on "Supported Standing in Boys With Duchenne Muscular Dystrophy"." Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 28, no. 3 (September 2016): 330-331. Full Text
  - Phillips, D, Case, LE, Griffin, D, Hamilton, K, Lara, SL, Leiro, B, Monfreda, J, Westlake, E, and Kishnani, PS. "Physical therapy management of infants and children with hypophosphatasia." Molecular genetics and metabolism 119, no. 1-2 (September 2016): 14-19. Full Text
  - Jones, HN, Crisp, KD, Robey, RR, Case, LE, Kravitz, RM, and Kishnani, PS. "Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining." Molecular Genetics and Metabolism 117, no. 2 (February 2016): 120-128. Full Text
  - McIntosh, PT, Case, LE, Chan, JM, Austin, SL, and Kishnani, P. "Characterization of gait in late onset Pompe disease." Molecular genetics and metabolism 116, no. 3 (November 2015): 152-156. Full Text
  - Petrovski, S, Shashi, V, Petrou, S, Schoch, K, McSweeney, KM, Dhindsa, RS, Krueger, B, Crimian, R, Case, LE, Khalid, R, El-Dairi, MA, Jiang, Y-H, Mikati, MA, and Goldstein, DB. "Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition." Cold Spring Harbor molecular case studies 1, no. 1 (October 2015): a000257-. Full Text
  - Shashi, V, Petrovski, S, Schoch, K, Crimian, R, Case, LE, Khalid, R, El-Dairi, MA, Jiang, Y-H, Mikati, MA, and Goldstein, DB. "Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing." Cold Spring Harbor molecular case studies 1, no. 1 (October 2015): a000265-. Full Text
  - Horvath, JJ, Austin, SL, Case, LE, Greene, KB, Jones, HN, Soher, BJ, Kishnani, PS, and Bashir, MR. "Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease." Muscle & Nerve 51, no. 5 (May 2015): 722-730. Full Text
  - Case, LE, Bjartmar, C, Morgan, C, Casey, R, Charrow, J, Clancy, JP, Dasouki, M, DeArmey, S, Nedd, K, Nevins, M, Peters, H, Phillips, D, Spigelman, Z, Tifft, C, and Kishnani, PS. "Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease." Neuromuscular disorders : NMD 25, no. 4 (April 2015): 321-332. Full Text
  - Case, LE, Bjartmar, C, Morgan, C, Casey, R, Charrow, J, Clancy, JP, Dasouki, M, DeArmey, S, Nedd, K, Nevins, M, Peters, H, Phillips, D, Spigelman, Z, Tifft, C, and Kishnani, PS. "Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease." Neuromuscular Disorders 25, no. 4 (April 1, 2015): 321-332. Full Text
  - Englander, ZA, Sun, J, Laura Case, , Mikati, MA, Kurtzberg, J, and Song, AW. "Brain structural connectivity increases concurrent with functional improvement: evidence from diffusion tensor MRI in children with cerebral palsy during therapy." Neuroimage. Clinical 7 (January 9, 2015): 315-324. Full Text
  - Case, LE, and Hartzell, AS. "Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study"." Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 27, no. 3 (January 2015): 235-. Full Text
  - Hobson-Webb, LD, Austin, SL, Jain, S, Case, LE, Greene, K, and Kishnani, PS. "Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort." The American Journal of Case Reports 16 (January 2015): 196-201. Full Text Open Access Copy
  - Bushby, K, Finkel, R, Wong, B, Barohn, R, Campbell, C, Comi, GP, Connolly, AM, Day, JW, Flanigan, KM, Goemans, N, Jones, KJ, Mercuri, E, Quinlivan, R, Renfroe, JB, Russman, B, Ryan, MM, Tulinius, M, Voit, T, Moore, SA, Lee Sweeney, H, Abresch, RT, Coleman, KL, Eagle, M, Florence, J, Gappmaier, E, Glanzman, AM, Henricson, E, Barth, J, Elfring, GL, Reha, A, Spiegel, RJ, O'donnell, MW, Peltz, SW, Mcdonald, CM, and PTC124-GD-007-DMD STUDY GROUP, . "Ataluren treatment of patients with nonsense mutation dystrophinopathy." Muscle & Nerve 50, no. 4 (October 2014): 477-487. Full Text
  - Koeberl, DD, Austin, S, Case, LE, Smith, EC, Buckley, AF, Young, SP, Bali, D, and Kishnani, PS. "Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease." Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology 28, no. 5 (May 2014): 2171-2176. Full Text Open Access Copy
  - Jones, HN, Crisp, KD, Moss, T, Strollo, K, Robey, R, Sank, J, Canfield, M, Case, LE, Mahler, L, Kravitz, RM, and Kishnani, PS. "Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness." Journal of pediatric rehabilitation medicine 7, no. 3 (January 2014): 255-265. Full Text
  - Javan, R, Horvath, JJ, Case, LE, Austin, S, Corderi, J, Dubrovsky, A, Kishnani, PS, and Bashir, MR. "Generating color-coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disorders." Muscle & Nerve 48, no. 2 (August 2013): 293-295. Full Text
  - Javan, R, Horvath, JJ, Case, LE, Austin, S, Corderi, J, Dubrovsky, A, Kishnani, PS, and Bashir, MR. "Generating color-coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disorders." Muscle and Nerve 48, no. 2 (2013): 293-295. Full Text
  - Krosschell, KJ, Maczulski, JA, Scott, C, King, W, Hartman, JT, Case, LE, Viazzo-Trussell, D, Wood, J, Roman, CA, Hecker, E, Meffert, M, Léveillé, M, Kienitz, K, Swoboda, KJ, and Project Cure SMA Investigators Network, . "Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I." Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association 25, no. 2 (January 2013): 140-149. Full Text
  - Horvath, JJ, Austin, SL, Jones, HN, Drake, EJ, Case, LE, Soher, BJ, Bashir, MR, and Kishnani, PS. "Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa." Mol Genet Metab 107, no. 3 (November 2012): 496-500. Full Text Link to Item
  - Prater, SN, Banugaria, SG, DeArmey, SM, Botha, EG, Stege, EM, Case, LE, Jones, HN, Phornphutkul, C, Wang, RY, Young, SP, and Kishnani, PS. "The emerging phenotype of long-term survivors with infantile Pompe disease." Genetics in Medicine : Official Journal of the American College of Medical Genetics 14, no. 9 (September 2012): 800-810. Full Text
  - Patel, TT, Banugaria, SG, Case, LE, Wenninger, S, Schoser, B, and Kishnani, PS. "The impact of antibodies in late-onset Pompe disease: a case series and literature review." Mol Genet Metab 106, no. 3 (July 2012): 301-309. Full Text Link to Item
  - Markert, CD, Case, LE, Carter, GT, Furlong, PA, and Grange, RW. "Exercise and Duchenne muscular dystrophy: where we have been and where we need to go." Muscle Nerve 45, no. 5 (May 2012): 746-751. Full Text Link to Item
  - Spiridigliozzi, GA, Heller, JH, Case, LE, Jones, HN, and Kishnani, PS. "Early cognitive development in children with infantile Pompe disease." Mol Genet Metab 105, no. 3 (March 2012): 428-432. Full Text Link to Item
  - Case, LE, Beckemeyer, AA, and Kishnani, PS. "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. (Review) Full Text Link to Item
  - Case, LE, Beckemeyer, AA, and Kishnani, PS. "Infantile Pompe disease on ERTuUpdate on clinical presentation, musculoskeletal management, and exercise considerations." American Journal of Medical Genetics Part C Seminars in Medical Genetics 160C, no. 1 (February 15, 2012): 69-79. (Academic Article) Full Text Link to Item
  - Messinger, YH, Mendelsohn, NJ, Rhead, W, Dimmock, D, Hershkovitz, E, Champion, M, Jones, SA, Olson, R, White, A, Wells, C, Bali, D, Case, LE, Young, SP, Rosenberg, AS, and Kishnani, PS. "Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease." Genetics in Medicine : Official Journal of the American College of Medical Genetics 14, no. 1 (January 2012): 135-142. Full Text
  - Roberts, M, Kishnani, PS, van der Ploeg, AT, Müller-Felber, W, Merlini, L, Prasad, S, and Case, LE. "The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry." Mol Genet Metab 104, no. 4 (December 2011): 574-582. Full Text Link to Item
  - Byrne, BJ, Kishnani, PS, Case, LE, Merlini, L, Müller-Felber, W, Prasad, S, and van der Ploeg, A. "Pompe disease: design, methodology, and early findings from the Pompe Registry." Molecular Genetics and Metabolism 103, no. 1 (May 2011): 1-11. Full Text
  - Byrne, BJ, Kishnani, PS, Case, LE, Merlini, L, Müller-Felber, W, Prasad, S, and Ploeg, AVD. "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 (2011): 424--. Full Text
  - Jones, HN, Muller, CW, Lin, M, Banugaria, SG, Case, LE, Li, JS, O'Grady, G, Heller, JH, and Kishnani, PS. "Oropharyngeal dysphagia in infants and children with infantile Pompe disease." Dysphagia 25, no. 4 (December 2010): 277-283. Full Text
  - Kishnani, PS, Austin, SL, Arn, P, Bali, DS, Boney, A, and Case, LE. "Glycogen storage disease type III diagnosis and management guidelines (vol 12, pg 446, 2010)." GENETICS IN MEDICINE 12, no. 9 (September 2010): 566-566. Link to Item
  - Kishnani, PS, Austin, SL, Arn, P, Bali, DS, Boney, A, Case, LE, Chung, WK, Desai, DM, El-Gharbawy, A, Haller, R, Smit, GPA, Smith, AD, Hobson-Webb, LD, Wechsler, SB, Weinstein, DA, Watson, MS, and ACMG, . "Glycogen storage disease type III diagnosis and management guidelines." Genetics in Medicine : Official Journal of the American College of Medical Genetics 12, no. 7 (July 2010): 446-463. Full Text
  - Bushby, K, Finkel, R, Birnkrant, DJ, Case, LE, Clemens, PR, Cripe, L, Kaul, A, Kinnett, K, McDonald, C, Pandya, S, Poysky, J, Shapiro, F, Tomezsko, J, Constantin, C, and DMD Care Considerations Working Group, . "Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care." The Lancet. Neurology 9, no. 2 (February 2010): 177-189. (Review) Full Text
  - Bushby, K, Finkel, R, Birnkrant, DJ, Case, LE, Clemens, PR, Cripe, L, Kaul, A, Kinnett, K, McDonald, C, Pandya, S, Poysky, J, Shapiro, F, Tomezsko, J, Constantin, C, and DMD Care Considerations Working Group, . "Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management." The Lancet. Neurology 9, no. 1 (January 2010): 77-93. (Review) Full Text
  - Bushby, K. "Lifeline. An interview of Kate Bushby." The Lancet. Neurology 9, no. 1 (January 2010): 37-null. (Interview) Full Text
  - Tolun, AA, Boyd, KF, Austin, SL, Vertilus, SM, Case, LE, Wechsler, SB, Millington, DS, Bali, D, Young, SP, and Kishnani, PS. "UTILITY OF A URINARY TETRASACCHARIDE AS A BIOMARKER FOR GLYCOGEN STORAGE DISEASE TYPE III." MOLECULAR GENETICS AND METABOLISM 98, no. 1-2 (2009): 39-39. Link to Item
  - Case, LE, Koeberl, DD, Young, SP, Bali, D, DeArmey, SM, Mackey, J, and Kishnani, PS. "Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study." Mol Genet Metab 95, no. 4 (December 2008): 233-235. Full Text Link to Item
  - Merlini, L, Kishnani, P, Byrne, B, Müller-Felber, W, Case, L, and Ploeg, AVD. "The Pompe Registry: Centralized Data Collection to Track the Natural Course of Pompe Disease." Clinical Therapeutics 30, no. SUPPL. 1 (2008): S24-. Full Text
  - Case, LE, Hanna, R, Frush, DP, Krishnamurthy, V, DeArmey, S, Mackey, J, Boney, A, Morgan, C, Corzo, D, Bouchard, S, Weber, TJ, Chen, Y-T, and Kishnani, PS. "Fractures in children with Pompe disease: a potential long-term complication." Pediatr Radiol 37, no. 5 (May 2007): 437-445. Full Text Link to Item
  - ACMG Work Group on Management of Pompe Disease, , Kishnani, PS, Steiner, RD, Bali, D, Berger, K, Byrne, BJ, Case, LE, Crowley, JF, Downs, S, Howell, RR, Kravitz, RM, Mackey, J, Marsden, D, Martins, AM, Millington, DS, Nicolino, M, O'Grady, G, Patterson, MC, Rapoport, DM, Slonim, A, Spencer, CT, Tifft, CJ, and Watson, MS. "Pompe disease diagnosis and management guideline." Genetics in Medicine : Official Journal of the American College of Medical Genetics 8, no. 5 (May 2006): 267-288. Full Text
  - Case, LE, and Kishnani, PS. "Physical therapy management of Pompe disease." Genetics in Medicine : Official Journal of the American College of Medical Genetics 8, no. 5 (May 2006): 318-327. (Review)
  - Kishnani, PS, Steiner, RD, Bali, D, Berger, K, Byrne, BJ, Case, LE, Crowley, JF, Downs, S, Howell, RR, Kravitz, RM, Mackey, J, Marsden, D, Martins, AM, Millington, DS, Nicolino, M, O'Grady, G, Patterson, MC, Rapoport, DM, Slonim, A, Spencer, CT, Tifft, CJ, and Watson, MS. "Erratum: Pompe disease diagnosis and management guidelines (Genetics in Medicine (May 2006) 8 (267-288))." Genetics in Medicine 8, no. 6 (2006): 382--. Full Text
  - Schlough, K, Nawoczenski, D, Case, LE, Nolan, K, and Wigglesworth, JK. "The effects of aerobic exercise on endurance, strength, function and self-perception in adolescents with spastic cerebral palsy: a report of three case studies." Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association 17, no. 4 (January 2005): 234-250. Full Text
  - Amalfitano, A, Bengur, AR, Morse, RP, Majure, JM, Case, LE, Veerling, DL, Mackey, J, Kishnani, P, Smith, W, McVie-Wylie, A, Sullivan, JA, Hoganson, GE, Phillips, JA, Schaefer, GB, Charrow, J, Ware, RE, Bossen, EH, and Chen, YT. "Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial." Genetics in Medicine : Official Journal of the American College of Medical Genetics 3, no. 2 (March 2001): 132-138.
Teaching & Mentoring
Recent Courses
- PT-D 715: NEUROLOGICAL PATIENT MANAGEMENT II 2018
- PT-D 725: Elective I 2018
- PT-D 726: Elective II 2018
- PT-D 727: Elective III 2018

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Education, Training, & Certifications

Duke Appointment History

Subject Headings

Selected Grants

Selected Publications

Conference Papers

Journal Articles

Recent Courses