2 results match your criteria: "the National Institute of Neurological Disorders and Stroke (D.B.-G.[Affiliation]"
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Neurology
November 2019
From the Rehabilitation Medicine Department (M.S.J., M.W., R.V., R.L., C.N.), Clinical Research Center, Neuromuscular Symptoms Unit (K.M., I.C., M.L., M.P., J.E., F.T., J.W.), Tissue Injury Branch, National Institute of Nursing Research, Clinical Trials Unit (E.K., G.N.) and Neuromuscular and Neurog
Objective: To identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs).
Methods: Over the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Assessments included the Motor Function Measure 32 (MFM32), myometry (knee flexors and extensors, elbow flexors and extensors), goniometry (knee and elbow extension), pulmonary function tests, and quality-of-life measures.
The Role of PIEZO2 in Human Mechanosensation.
N Engl J Med
October 2016
From the National Center for Complementary and Integrative Health (A.T.C., M.S., M.C., C.L.), the National Institute of Neurological Disorders and Stroke (D.B.-G., S.D., L.H.H., N.B., D.N., A.R.F., C.E.L.P., C.G.B.), and the Functional and Applied Biomechanics Section, Rehabilitation Medicine Depart
Article Synopsis
- The study investigates the role of the PIEZO2 ion channel in mechanosensation by analyzing patients with unique neuromuscular symptoms, including scoliosis.
- Through various assays and tests, the researchers found that these patients had inactivating variants in PIEZO2, leading to a loss of fine touch perception and significantly impaired proprioception, particularly without visual cues.
- Despite their proprioceptive challenges, the patients were able to perform everyday tasks, suggesting that PIEZO2 plays a critical role in mechanosensation in humans.