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Síndrome de Wolfram: relato de caso
(Conselho Brasileiro de Oftalmologia, 2004-12-01)
Wolfram syndrome consists of the association of diabetes mellitus with optic atrophy. Other common findings are deafness, urinary tract and neurological disorders. It is an autossomic recessive disease, with incomplete ...
Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome
(Assoc Arquivos Neuro- Psiquiatria, 2015-05-01)
Adaptive preconditioning in neurological diseases – therapeutic insights from proteostatic perturbations
(Elsevier B.V., 2016)
© 2016 The AuthorsIn neurological disorders, both acute and chronic neural stress can disrupt cellular proteostasis, resulting in the generation of pathological protein. However in most cases, neurons adapt to these ...
Adaptive preconditioning in neurological diseases - therapeutic insights from proteostatic perturbations
(Elsevier, 2016)
In neurological disorders, both acute and chronic neural stress can disrupt cellular proteostasis, resulting in the generation of pathological protein. However in most cases, neurons adapt to these proteostatic perturbations ...
Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome
(BIO SCIENTIFICA LTD, 2009)
Objective: Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance. The gene for WS, WFS1, was identified on chromosome 4p16 and most WS patients carry ...
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
(2018)
Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although ...
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
(Nature, 2020)
Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that ...
Comparación de la severidad y extensión de la enfermedad coronaria multivaso por Syntax Score en una poblaciòn de las Antillas Holandesas vs controles nacionales
(Universidad del RosarioEspecialización en Cardiología Intervencionista y HemodinámiaFacultad de Medicina, 2012)
Coronary artery disease (CAD) is still the first cause of morbidity and mortality in the general population. CAD has genetic, social, cultural, environmental and race backgroundsbesides the traditional major risks factors. ...