Publications

Michael

Below is a list of recent publications from Barry Byrne, MD, PhD, Barbara Smith, PT, PhD and Manuela Corti, PT, PhD.

Perez BA, Shutterly A, Chan YK, Byrne BJ, Corti M. Management of Neuroinflammatory Responses to AAV-Mediated Gene Therapies for Neurodegenerative DiseasesBrain Sci. 2020;10(2):E119. Published 2020 Feb 22. doi:10.3390/brainsci10020119

Smith BK, Allen S, Mays S, Martin AD, Byrne BJ. Dynamic respiratory muscle function in late-onset Pompe diseaseSci Rep. 2019;9(1):19006. Published 2019 Dec 12. doi:10.1038/s41598-019-54314-8

Barnard AM, Lott DJ, Batra A, et al. Imaging respiratory muscle quality and function in Duchenne muscular dystrophyJ Neurol. 2019;266(11):2752–2763. doi:10.1007/s00415-019-09481-z

Byrne BJ, Fuller DD, Smith BK, et al. Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapyAnn Transl Med. 2019;7(13):290. doi:10.21037/atm.2019.05.56

Baker M, Griggs R, Byrne B, et al. Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps [published online ahead of print, 2019 May 20]. JAMA Neurol. 2019;10.1001/jamaneurol.2019.1206. doi:10.1001/jamaneurol.2019.1206

Pitts T, Bordelon R, Huff A, Byrne BJ, Smith BK. Cough Effectiveness and Pulmonary Hygiene Practices in Patients with Pompe DiseaseLung. 2019;197(1):1–8. doi:10.1007/s00408-018-0171-1

Suzuki-Hatano S, Saha M, Rizzo SA, et al. AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth SyndromeHum Gene Ther. 2019;30(2):139–154. doi:10.1089/hum.2018.020

Ahmed S, Daniel Martin A, Smith BK. Inspiratory Muscle Training in Patients with Prolonged Mechanical Ventilation: Narrative ReviewCardiopulm Phys Ther J. 2019;30(1):44–50. doi:10.1097/CPT.0000000000000092

Keeler AM, Zieger M, Todeasa SH, et al. Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe DiseaseHum Gene Ther. 2019;30(1):57–68. doi:10.1089/hum.2018.016

Senesac CR, Lott DJ, Willcocks RJ, Duong T, Smith BK. Lower Extremity Functional Outcome Measures in Duchenne Muscular Dystrophy-A Delphi SurveyJ Neuromuscul Dis. 2019;6(1):75–83. doi:10.3233/JND-180337

Arora H, Willcocks RJ, Lott DJ, et al. Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural historyMuscle Nerve. 2018;58(5):631–638. doi:10.1002/mus.26161

Huff A, Reed MD, Smith BK, Brown EH Jr, Ovechkin AV, Pitts T. Strategies for the Integration of Cough and Swallow to Maintain Airway Protection in HumansLung. 2018;196(5):601–608. doi:10.1007/s00408-018-0133-7

Batra A, Harrington A, Lott DJ, et al. Two-Year Longitudinal Changes in Lower Limb Strength and Its Relation to Loss in Function in a Large Cohort of Patients With Duchenne Muscular DystrophyAm J Phys Med Rehabil. 2018;97(10):734–740. doi:10.1097/PHM.0000000000000957

Burg M, Rosebrough C, Drouin LM, et al. Atomic structure of a rationally engineered gene delivery vector, AAV2.5J Struct Biol. 2018;203(3):236–241. doi:10.1016/j.jsb.2018.05.004

Lee NC, Hwu WL, Muramatsu SI, et al. A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease MiceMol Neurobiol. 2018;55(6):5299–5309. doi:10.1007/s12035-017-0763-4

Cade WT, Bohnert KL, Reeds DN, et al. Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studiesPLoS One. 2018;13(5):e0197776. Published 2018 May 24. doi:10.1371/journal.pone.0197776

Beggs AH, Byrne BJ, De Chastonay S, et al. A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus studyMuscle Nerve. 2018;57(4):550–560. doi:10.1002/mus.26018

Byrne BJ. Safety First: Perspective on Patient-Centered Development of AAV Gene Therapy ProductsMol Ther. 2018;26(3):669–671. doi:10.1016/j.ymthe.2018.02.009

Bittel AJ, Bohnert KL, Reeds DN, et al. Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot StudyJIMD Rep. 2018;41:63–72. doi:10.1007/8904_2018_102