Results 151 to 160 of about 1,051,028 (293)

Corpus callosum agenesis in morphoclinical aspect [PDF]

open access: yes
Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, Chişinău, Republica MoldovaIntroduction. Agenesis of the corpus callosum (ACC) is a congenital brain anomaly, characterized by the absence of commissural fibers connecting the two large
Rotaraș, Arina
core   +1 more source

Structural Covariance Analysis of Altered Brain Development in Neonates With Congenital Heart Disease After Surgery

open access: yesJournal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Brain development is altered in neonates with congenital heart disease (CHD), with well‐characterised reductions in regional brain volumes and enlargement of CSF spaces. However, perioperative morphological changes remain incompletely understood. Purpose To identify brain regions showing spatial patterns of coordinated expansion and
Mirthe E. M. van der Meijden   +14 more
wiley   +1 more source

Orbital Lymphatic Malformations Are Associated With Intracranial Vascular Anomalies

open access: yesThe Laryngoscope, EarlyView.
In this retrospective series, all seven patients with orbital lymphatic malformations had intracranial vascular anomalies consistent with cerebrofacial venous metameric syndrome and hotspot PIK3CA variants identified through tissue‐based sequencing. Five patients treated with alpelisib experienced symptom improvement within 6 months.
Kelsey A. Loy   +11 more
wiley   +1 more source

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

open access: yesMass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

AKAP12 Regulates Perivascular OPC Accumulation in the Corpus Callosum During Cerebral Hypoperfusion. [PDF]

open access: yesGlia
Kimura S   +11 more
europepmc   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad   +2 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño   +6 more
wiley   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy