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Muscle & Nerve|August 29, 2025
T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN)Diane Armao, Thomas W Bouldin, Diana X Bharucha-Goebel, et al.
Neurocritical Care|April 15, 2010
Emergency Department hyperglycemia as a predictor of early mortality and worse functional outcome after intracerebral hemorrhageLatha G Stead, Anunaya Jain, M Fernanda Bellolio, et al.
Archives of Physical Medicine and Rehabilitation|June 29, 2014
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathyCarole Vuillerot, Pascal Rippert, Virginie Kinet, et al.
Archives of Physical Medicine and Rehabilitation|May 28, 2014
English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseasesCarole Vuillerot, Katherine G Meilleur, Minal Jain, et al.
Pediatric Pulmonology|January 14, 2017
Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin α2-related dystrophyKatherine G Meilleur, Melody M Linton, Joseph Fontana, et al.
Neurology|September 22, 2019
Adult MTM1-related myopathy carriers: Classification based on deep phenotypingBenjamin T Cocanougher, Lauren Flynn, Pomi Yun, et al.
Brain : a Journal of Neurology|June 11, 2021
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohortDiana X Bharucha-Goebel, Gina Norato, Dimah Saade, et al.
The New England Journal of Medicine|March 20, 2024
Intrathecal Gene Therapy for Giant Axonal NeuropathyDiana X Bharucha-Goebel, Joshua J Todd, Dimah Saade, et al.
Neurology|January 14, 2021
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related DystrophiesDaniel Natera-de Benito, A Reghan Foley, Cristina Domínguez-González, et al.
The Lancet. Neurology|November 17, 2023
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trialPerry B Shieh, Nancy L Kuntz, James J Dowling, et al.
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