Results 171 to 180 of about 58,362 (266)

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Letter to: Ventriculitis incidence and outcomes in patients with aneurysmal subarachnoid hemorrhage: a prospective observational study, DOI 10.62675/2965-2774.20250076, e-location 2025;37:e20250076. [PDF]

Crit Care Sci
Barroso JSA, Almeida HD, Lins ACO, Silva JFP, Andrade AS, Lopes JM.   +5 more
europepmc   +1 more source

Unilateral Freezing of Gait in Normal Pressure Hydrocephalus after Stroke

Movement Disorders Clinical Practice, EarlyView.
Jose Portales, Matthew Feldman, Jason Margolesky   +2 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Temporal and spatial characterization of physiological noise in rs-fMRI at a high temporal resolution. [PDF]

Sci Rep
Kuldavletova O, Mauboussin M, Naveau M, Vandevelde A, Delcroix N, Joliot M, Etard O.   +6 more
europepmc   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Spontaneous Right Thalamic Hemorrhage With Intraventricular Extension in a Two-Month-Old Preterm Infant Initially Suspected of Having Cow's Milk Protein Allergy. [PDF]

Cureus
Abdulsalam TA, Musa R, Aldirawi M, Hamdi M, Yavuz L.   +4 more
europepmc   +1 more source

Osmotic demyelination syndrome diagnosed by Magnetic Resonance Imaging in a child with tetraplegia: Case report. [PDF]

Radiol Case Rep
Domruk ÖF, Almus E, Yılmaz Z, Yapıcı Ö.   +3 more
europepmc   +1 more source