Results 221 to 230 of about 129,816 (327)

Updated guidance from NICE on implantable defibrillators: does it work in real life? [PDF]

, 2016
Cowie, MR
core   +1 more source

Syncope and ventricular arrhythmias in hypertrophic cardiomyopathy are not related to the derangement of coronary microvascular function [PDF]

, 1997
Roberto Lorenzoni, Roberto Gistri, Franco Cecchi, Iacopo Olivotto, Giampaolo Chiriatti, Perry Elliott, William J. McKenna, Paolo G. Camici   +7 more
openalex   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Metal‐Responsive Up‐Regulation of Bifunctional Disulfides for Suppressing Protein Misfolding and Promoting Oxidative Folding

Angewandte Chemie, EarlyView.
A stress‐responsive folding promotor was developed by conjugating metal‐binding ligands and a redox‐active disulfide. The oxidative strength of the bifunctional disulfide was enhanced by metal coordination, inhibiting protein misfolding and up‐regulating the oxidative folding capacity under metal stress.
Keita Mori, Tsubura Kuramochi, Motonori Matsusaki, Yuki Hashiguchi, Masaki Okumura, Tomohide Saio, Yoshiaki Furukawa, Kenta Arai, Takahiro Muraoka   +8 more
wiley   +2 more sources

Seamless meningioma resection in a patient with coexisting myoclonic epilepsy and sporadic Pick's disease. [PDF]

Oxf Med Case Reports
Maaz J, Diaz C, Orellana M, Caravantes RA.   +3 more
europepmc   +1 more source

Malignant vasovagal syncope: a randomised trial of metoprolol and clonidine [PDF]

, 1998
Warren Smith
openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Janus‐Type Photophysics of Rotational Isomers in a Diphenylanthracene Dimer

Angewandte Chemie, EarlyView.
To fully grasp the genuine photophysical landscape of organic molecules, we must consider conformational isomerism arising from structural flexibility. Or else, this may mislead diverse mixtures of conformers to be assigned as a single ensemble. This work demonstrates Janus‐type photophysics of rotamers in a diphenylanthracene dimer, highlighting ...
Byeongjoo Kang, Daniel Yim, Jaewook Kim, Hyeonwoo Choi, Kyeong Mo Lim, Juwon Oh, Naitik A. Panjwani, Hyungjun Kim, Woojae Kim   +8 more
wiley   +2 more sources

The role of the autonomic reflex tests in arrhythmology [PDF]

, 2011
Makai Attila
core  

Studies of the Syncopic Effect of Aniline Derivatives on Fish. I. The Problem Concerning the Determination of Median Lethal Concentration in Fish

, 1983
Yasuhide TONOGAI, Shunjiro Ogawa, Yoshio Ito, Masahiro IWAIDA   +3 more
openalex   +2 more sources