Results 41 to 50 of about 206 (103)

monarch-initiative/mondo: v2022-04-04

, 2022
Overview: Number of new terms: 13 Number of changed labels: 8 Number of changed definitions: 4 Number obsoleted terms: 73 Number of new obsoletion candidates: 16 Number of terms who were previously candidate for obsoletion and are now not anymore: 1 ...
sabrinatoro
core   +1 more source

Neurodegenerative stress related mitochondrial proteostasis [PDF]

, 2015
1.1 Background: Mitochondria are the main site of energy production in most cells. Furthermore, they are involved in a multitude of other essential cellular processes, such as regulating the cellular calcium pool, lipid metabolism and programmed cell ...
Fang, Lei
core   +1 more source

Septo-optic dysplasia (Morsier syndrome) [PDF]

, 2003
Se presentan dos casos de displasia septoóotica o Síndrome de Morsier, una entidad del sistema nervioso que sólo se puede confirmar por medio de neuroimágenes.
Lubinus Badillo, Federico, Castilla Pinilla, Campo E   +1 more
core  

Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. [PDF]

AJNR Am J Neuroradiol, 2023
Desai NK, Kralik SF, Edmond JC, Shah V, Huisman TAGM, Rech M, Schaaf CP.   +6 more
europepmc   +1 more source

A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review. [PDF]

Medicine (Baltimore), 2022
Sun Y, Guo L, Sha J, Tao H, Wang X, Liu Y, Zhai J, Wu J, Zhao Y.   +8 more
europepmc   +1 more source

White matter damage and cognitive impairment after traumatic brain injury

, 2010
White matter disruption is an important determinant of cognitive impairment after brain injury, but conventional neuroimaging underestimates its extent.
Powell, Jane Hilary, Leech, R, K. M. Kinnunen, Counsell, Serena Jane; id_orcid, Bonnelle, V., Bonnelle, V, Sharp, D. J., Kinnunen, K. M., Hawkins, Peter Charlie; id_orcid, Patel, Maneesh Chandrakant, Patel, MC, M. C. Patel, Sharp, David James, Greenwood, Richard, D. J. Sharp, Hawkins, PC, Leech, R., Patel, M. C., Powell, Jane H., Greenwood, R, J. H. Powell, Counsell, S. J., Sharp, DJ, P. C. Hawkins, Counsell, SJ, Powell, JH, R. Greenwood, Kinnunen, KM, R. Leech, Bonnelle, Valerie, Leech, Robert, V. Bonnelle, Kinnunen, Kirsi Maria, Hawkins, R. C., S. J. Counsell   +34 more
core   +1 more source

Unexplained Becomes Explained

, 2019
7 years old male presented to the ophthalmology clinic for the evaluation of low vision. He was born with caesarean section after an uneventful pregnancy at 38 weeks, 4.05kg.
Jinu Han; Hye Young Kim; Sueng-Han Han
core  

Utilisation de l'approche d'expansion du code génétique pour étudier les mutations ponctuelles du gène NR2F1

, 2023
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare neurodevelopmental disorder caused by mutations of the NR2F1 gene, a transcriptional regulator that plays a key role in brain development.
Phromkrasae, Wanchana
core  

Use of the Genetic Code Expansion Approach to Study Pathogenic Point Mutations in the NR2F1 gene

, 2023
Le syndrome d'atrophie optique de Bosch-Boonstra-Schaaf (BBSOAS) est une maladie neurodéveloppementale rare causée par des mutations du gène NR2F1, un régulateur transcriptionnel qui joue un rôle clé dans le développement du cerveau.
Phromkrasae, Wanchana
core  

Paragangliomas and paraganglioma syndromes

, 2011
Paragangliomas are rare tumors of neural crest origin. They are benign in the majority of cases and are characterized by a strong vascularisation.In the head and neck region they most commonly occur as carotid body tumors.
Boedeker, CC, Boedeker, Carsten Christof
core   +1 more source