Published in Genetics in Medicine
Purpose This study aimed to delineate the genetic basis of congenital ocular motor apraxia (COMA) in patients not otherwise classifiable. Methods We compiled clinical and neuroimaging data of individuals from six unrelated families with distinct clinical features of COMA who do not share common diagnostic characteristics of Joubert syndrome or othe...
Published in Journal of neurology, neurosurgery, and psychiatry
Published in Practical neurology
The call to the bedside and the prognostication of a comatose patient-telling family members what to expect-commonly falls to neurologists. The assessment is often confounded by the treatment paradigms of modern intensive care (ie, drugs, drug interactions and targeted temperature management). Patients may be too unstable to leave the intensive car...
We present a theoretical investigation of the hydrated hydroxide anion clusters, OH(H2O) n -, and of the collisional complexes, H-OH(H2O) n - and Rb-OH(H2O) n - (with n = 1-4). The MP2 and CCSD(T) methods are used to calculate interaction energies, optimized geometries, and vertical detachment energies. Parts of the potential energy surfaces are ex...
Published in Current biology : CB
For proper chromosome segregation in mitosis, sister kinetochores must interact with microtubules from opposite spindle poles (chromosome bi-orientation) [1, 2]. To promote bi-orientation, Aurora B kinase disrupts aberrant kinetochore-microtubule interactions [3-6]. It has long been debated how Aurora B halts this action when bi-orientation is esta...
BACKGROUND: We previously validated simplified electroencephalogram (EEG) tracings obtained by a bispectral index (BIS) device against standard EEG. This retrospective study now investigated whether BIS EEG tracings can predict neurological outcome after cardiac arrest (CA). METHODS: Bilateral BIS monitoring (BIS VISTA™, Aspect Medical Systems, Inc...
Published in Proceedings of the National Academy of Sciences of the United States of America
De novo kinetochore assembly, but not template-directed assembly, is dependent on COMA, the kinetochore complex engaged in cohesin recruitment. The slowing of replication fork progression by treatment with phleomycin (PHL), hydroxyurea, or deletion of the replication fork protection protein Csm3 can activate de novo kinetochore assembly in COMA mut...
Recent studies identify severely brain-injured patients with limited or no behavioral responses who successfully perform functional magnetic resonance imaging (fMRI) or electroencephalogram (EEG) mental imagery tasks [1, 2, 3, 4, 5]. Such tasks are cognitively demanding [1]; accordingly, recent studies support that fMRI command following in brain-i...
Se presenta un estudio diacrónico de 109 concepciones del estudiantado universitario pertenecientes al Grado de Educación Social de la Universidad Pablo de Olavide, durante los cursos académicos 2015/16 y 2016/17 sobre las fortalezas y debilidades que presentan los cursos MOOC en los ámbitos socio-educativos. A través de una metodología cualitativa...
Published in The EMBO journal
Kinetochores are dynamic cellular structures that connect chromosomes to microtubules. They form from multi-protein assemblies that are evolutionarily conserved between yeasts and humans. One of these assemblies-COMA-consists of subunits Ame1CENP-U, Ctf19CENP-P, Mcm21CENP-O and Okp1CENP-Q A description of COMA molecular organization has so far been...
