A5004980642- Hereditary Neurological Disorders
- Microbial Natural Products and Biosynthesis
- RNA modifications and cancer
- Mycobacterium research and diagnosis
- Biochemical and Molecular Research
- Peripheral Neuropathies and Disorders
- Lung Cancer Diagnosis and Treatment
- Tracheal and airway disorders
- RNA and protein synthesis mechanisms
- Retinal Development and Disorders
- Bacterial Genetics and Biotechnology
- Genomics and Phylogenetic Studies
- Myasthenia Gravis and Thymoma
- Lung Cancer Treatments and Mutations
- Airway Management and Intubation Techniques
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Medical and Biological Sciences
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Retinal Diseases and Treatments
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Ubiquitin and proteasome pathways
- Neurological diseases and metabolism
- RNA Research and Splicing
Cedars-Sinai Medical Center
2024-2025
University of Worcester
2005-2022
University of California System
2022
South Bend Museum of Art
2020-2021
Baylor College of Medicine
1983-2020
Texas Children's Hospital
1991-2020
Demuris (United Kingdom)
2018-2019
Newcastle University
2018
University of Sussex
2013
Imperial College London
2013
<b>Objective: </b> To determine the validity and reliability of Charcot-Marie-Tooth disease (CMT) neuropathy score (CMTNS) in patients with inherited neuropathy. <b>Background: Natural history studies potential treatment trials for various forms CMT are limited by lack quantitative methodologies to monitor progression. Most cases can be considered length-dependent axonal neuropathies because disability even demyelinating correlates degeneration. The total (TNS) is a validated composite...
| Diagnosis of mediastinal/hilar lymph nodes and peribronchial masses || Conventional transbronchial fine needle aspiration (TBNA) B √ Endobronchial ultrasound-guided (EBUS-TBNA) D Therapeutic procedures for malignant disease Malignant airway obstruction 1. debulking tumours 2. electrocautery or diathermy
Calcium-dependent antibiotics (CDA) are cyclic lipopeptides assembled by nonribosomal peptide synthetase (NRPS) enzymes. Active site modification of the 3-methyl glutamate activating adenylation (A) domain CDA NRPS enables incorporation synthetic glutamine into CDA. This provides first example how A-domains can be engineered to introduce "non-natural" amino acids peptides. Detailed facts importance specialist readers published as "Supporting Information". Such documents peer-reviewed, but...
Bronchoscopic cryobiopsy is a new method of bronchoscopic tissue sampling in interstitial lung disease. In case transbronchial biopsies, the resultant samples are high quality, and parenchyma seen adequate for histological diagnosis most cases. Bleeding after biopsy important procedure- associated complication may be life threatening. This study addresses risk bleeding cryobiopsy. this prospective, randomized, controlled multicentre 359 patients with disease requiring diagnostic were...
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is difficult to distinguish from mimicking disorders, with misdiagnosis resulting in IVIG overutilization. We evaluate a clinical-electrophysiological model facilitate CIDP versus mimic neuropathy prediction. Using the European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) 2021 guidelines we derived 26 clinical and 144 nerve conduction variables. The was generated validated utilizing total (n = 129) mimics 309);...
This new guideline covers the rapidly advancing field of interventional bronchoscopy using flexible bronchoscopy. It includes use more complex diagnostic procedures such as endobronchial ultrasound, interventions for relief central airway obstruction due to malignancy and recent development therapies chronic obstructive pulmonary disease asthma. The aims help all those who undertake understand about this important area. also inform respiratory physicians other specialists dealing with lung...
Purified BlaI, the putative repressor of β‐lactamase operon in Staphylococcus aureus , binds specifically to two regions dyad symmetry (operators) located blaZ–blaR1 intergenic region. BlaI with similar affinity and related sequence upstream mec gene found methicillin‐resistant strains S. providing physical evidence for cross‐talk previously observed between these systems. A change from a lysine N‐terminus an alanine or deletion C‐terminal 23 amino acids severely reduces its DNA‐binding...
RbpA is a small non–DNA-binding transcription factor that associates with RNA polymerase holoenzyme and stimulates in actinobacteria, including Streptomyces coelicolor Mycobacterium tuberculosis. seems to show specificity for the vegetative form of as opposed alternative forms enzyme. Here, we explain basis this by showing binds directly principal σ subunit these organisms, but not more diverged factors. Nuclear magnetic resonance spectroscopy revealed that, although differing their...
<h3>Purpose</h3> In this study we investigate the disease etiology in 12 patients with de novo variants <i>FAR1</i> all resulting an amino acid change at position 480 (p.Arg480Cys/His/Leu). <h3>Methods</h3> Following next-generation sequencing and clinical phenotyping, functional characterization was performed patients' fibroblasts using FAR1 enzyme analysis, immunoblotting/immunofluorescence, lipidomics. <h3>Results</h3> All had spastic paraparesis bilateral congenital/juvenile cataracts,...
Importance The etiology of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease, is unknown. However, neuroinflammation and complement activation may play role in disease progression. Objective To determine the effects zilucoplan, an inhibitor C5, individuals with ALS. Design, Setting, Participants Zilucoplan was tested as regimen A HEALEY ALS Platform Trial, phase 2 to 3 multicenter, randomized, double-blind, placebo-controlled perpetual platform clinical trial sharing...
Hintergrund: Die Sicherheit von Efgartigimod PH20 s. c. bei generalisierter Myasthenia gravis (gMG) und chronisch-entzündlicher demyelinisierender Polyneuropathie (CIDP) wurde untersucht.
ABSTRACT Background and Aims Leucine Zipper 4 (LUZP4)‐immunoglobulin G (IgG) is a novel antibody implicated in germ cell tumor‐related paraneoplastic neurologic syndrome. We report case of painful, progressive tetraparesis associated with testicular seminoma LUZP4‐IgG seropositivity. Case Report A 51‐year‐old male presented 5‐week history lower limb predominant weakness. Nerve conduction studies (NCS) electromyography (EMG) revealed subacute axonal polyradiculoneuropathy. MRI lumbar spine...
The proteins encoded by chromosomal homologues of the parA and parB genes many bacterial plasmids have been implicated in chromosome partitioning. Unlike their plasmid counterparts, mutant phenotypes produced deleting these so far elusive or weakly expressed, except during sporulation. Here properties Pseudomonas putida strains with mutations are described. These mutants do not give rise to elevated levels anucleate bacteria when grown rich medium under standard conditions. However,...