Antioxidant status in controlled and uncontrolled hypertension and its relationship to endothelial damage.

Tse Wy, Maxwell, H Thomason, +4

PubMed

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Minal Jain, Katherine G. Meilleur, Eunhee Kim, +42

Neurology

Correlation of phenotype with genotype and protein structure in RYR1-related disorders

Joshua J. Todd, Vatsala Sagar, Tokunbor A. Lawal, +14

Journal of Neurology

Intrathecal Gene Therapy for Giant Axonal Neuropathy

Diana Bharucha‐Goebel, Joshua J. Todd, Dimah Saade, +26

New England Journal of Medicine

Randomized controlled trial of <i>N</i> -acetylcysteine therapy for <i>RYR1</i> -related myopathies

Joshua J. Todd, Tokunbor A. Lawal, Jessica W. Witherspoon, +19

Neurology

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Katherine G. Meilleur, Minal Jain, Linda S. Hynan, +30

Neuromuscular Disorders

Collagen Vi-Degenerative DiseaseClinical Outcome MeasuresOrthopaedic SurgeryNeuromusculoskeletal Disorder +1

Two-minute versus 6-minute walk distances during 6-minute walk test in neuromuscular disease: Is the 2-minute walk test an effective alternative to a 6-minute walk test?

Jessica W. Witherspoon, Ruhi Vasavada, Ranjani Logaraj, +6

European Journal of Paediatric Neurology

Physical ActivityKinesiology2-Minute Walk6-Minute Walk TestNeuromuscular Disease +9

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

Diana Bharucha‐Goebel, Gina Norato, Dimah Saade, +16

Brain

Recurrent Founder MutationNeurological DisorderPeripheral Nerve InjuryGeneticsNeuropathic Pain +15

Rasch Analysis of the Motor Function Measure in Patients With Congenital Muscle Dystrophy and Congenital Myopathy

Carole Vuillerot, Pascal Rippert, Virginie Kinet, +12

Archives of Physical Medicine and Rehabilitation

Congenital MyopathyMuscle FunctionKinesiologyRasch AnalysisMusculoskeletal Function +7

Adult <i>MTM1</i> -related myopathy carriers

Ben Cocanougher, Lauren Flynn, Pomi Yun, +13

Neurology