Results 21 to 30 of about 60,975 (259)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Ultrasound investigation of the fetal cerebral ventricles [PDF]

Journal of Perinatal Medicine, 1985
Significant recent advances in ultrasonic technology have now made possible detailed evaluation of normal and abnormal fetal intracranial anatomy. Accurate knowledge of fetal intracranial anatomy is important for accurate and reproducible cephalometry as well as in antenatal diagnosis of dilated brain ventricles.
D'ADDARIO, Vincenzo, Kurjak A.
openaire   +2 more sources

Effect of Skull Type on the Relative Size of Cerebral Cortex and Lateral Ventricles in Dogs [PDF]

, 2017
Volume measurements of the brain are of interest in the diagnosis of brain pathology. This is particularly so in the investigation hydrocephalus and canine cognitive dysfunction (CCD), both of which result in thinning of the cerebral cortex and enlarged ...
Mette Berendt, Berendt, Mette, McEvoy, Fintan J., Pilegaard, Anders M., Pernille Holst, Arne Møller, Holst, Pernille, Fintan J. McEvoy, Anders M. Pilegaard, Møller, Arne   +9 more
core   +1 more source

Comparison of a canine brain with normal lateral cerebral ventricles (A) and enlarged ventricles (B).

, 2015
Comparison of a canine brain with normal lateral cerebral ventricles (A) and enlarged ventricles (B).
Malgorzata Kolecka (734198), Steffi Laubner (734197), Andreas Moritz (630227), Martin Kramer (333469), Martin J. Schmidt (691108), Klaus Failing (734199), Nele Ondreka (734200)   +6 more
core   +1 more source

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

Stereotaxic placement of cannulae in cerebral ventricles of the pig [PDF]

, 1981
We have developed and employed a stereotaxic coordinate system for the pig brain based on external skull landmarks. Sagittal, coronal, and horizontal planes were defined.
Poceta, J. Steven, Bohr, David F., Hamlin, Michael N., Haack, David W.   +3 more
core   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Automated Deep Learning Segmentation of Neonatal Cerebral Lateral Ventricles from Three-Dimensional Ultrasound Images

, 2021
Compared to two-dimensional (2D) ultrasound (US), three-dimensional (3D) US is a more sensitive alternative that can provide quantitative information for monitoring neonatal cerebral lateral ventricles.
Szentimrey, Zachary
core