MOLECULAR GENETIC ANALYSIS OF THE PLP1 GENE IN 38 FAMILIES WITH PLP1-RELATED DISORDERS: IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF 11 NOVEL PLP1 MUTATIONS

Abstract Background The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP).PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesion

A case of a young Saudi patient with a previous diagnosis of bronchial asthma, nasal polyps, and chronic smoker, presented with atypical chest pain, elevated serum troponin and borderline ischemic electrocardiogram (ECG) changes, with no significant regional wall motion abnormalities at bedside echocardiography is reported.The patient was admitted

As the benefits, limitations, and contraindications of transoral laser microsurgery (TLM) in glottic carcinoma treatments become better defined, pretreatment imaging has Swimsuit become more important to assess the case-specific suitability of TLM and to predict functional outcomes both for treatment consideration and patient counseling.Magnetic re

This work presents a novel bird-shaped broadband piezoelectric energy harvester based on a two-DOF crossed beam for low-frequency environmental vibrations.The harvester features a cantilever mounted on a double-hinged beam, whose rotating motions effectively diminish its natural frequencies.Numerical simulation based on the finite element Swimsuit

In this paper, a detailed three-dimensional, transient, finite element method of fuse link NH000 gG 100 A is proposed.The thermal properties during the operation of the fuses under nominal (100 A) and custom conditions (110 and 120 A) are the Swim Top main focus of the analyses that were conducted.The work concerns both the outside elements of the