Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont+4 more
wiley +1 more source
Progress report to Materials Laboratory, Wright Air Development Center, Department of the Air Force on four low-alloy steels for rotor disks of gas turbines in jet engines [PDF]
R. L. Jones+2 more
openalex
Measuring Principle and Calibration Experiment of the Overloaded Self-calibration Parallel Four-dimensional Force Measuring Platform [PDF]
Yanzhi Zhao
openalex +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó+17 more
wiley +1 more source
Tenth progress report to Materials Laboratory, Wright Air Development Center, Department of the Air Force on four low-alloy steels for rotor disks of gas turbines in jet engines [PDF]
R. L. Jones+2 more
openalex
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang+7 more
wiley +1 more source
Fourth progress report to Materials Laboratory, Wright Air Development Center, Department of the Air Force on four low-alloy steels for rotor disks of gas turbines in jet engines [PDF]
R. L. Jones+2 more
openalex