Results 81 to 90 of about 90,161 (348)

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

microcephaly

Citation: 'microcephaly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10955 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Ali Qais Hasan, Moath Mohammed Madlool
  +6 more sources

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Spacial and temporal analysis of infant mortality from microcephaly in argentina (1998-2012)

Revista de la Facultad de Ciencias Médicas de Córdoba, 2017
Due to the increase in cases of microcephaly caused by Zika virus in Brazil, the Ministry of Health of Argentina recommends increasing surveillance of this malformation.
José Edgardo Dipierri, Rubén Adrian Bronberg   +1 more
doaj   +1 more source

Socioeconomic disparities associated with symptomatic Zika virus infections in pregnancy and congenital microcephaly: A spatiotemporal analysis from Goiânia, Brazil (2016 to 2020).

PLoS Neglected Tropical Diseases, 2022
The Zika virus (ZIKV) epidemic, which was followed by an unprecedented outbreak of congenital microcephaly, emerged in Brazil unevenly, with apparent pockets of susceptibility.
Luiza Emylce Pela Rosado, Erika Carvalho de Aquino, Elizabeth Bailey Brickley, Divania Dias da Silva França, Fluvia Pereira Amorim Silva, Vinicius Lemes da Silva, Angela Ferreira Lopes, Marilia Dalva Turchi   +7 more
doaj   +1 more source

Causes of microcephaly in human—theoretical considerations

Frontiers in Neuroscience, 2023
As is evident from the theme of the Research Topic “Small Size, Big Problem: Understanding the Molecular Orchestra of Brain Development from Microcephaly,” the pathomechanisms leading to mirocephaly in human are at best partially understood. As molecular
Michael Heide, Wieland B. Huttner
doaj   +1 more source

Bounding bias due to selection

, 2019
When epidemiologic studies are conducted in a subset of the population, selection bias can threaten the validity of causal inference. This bias can occur whether or not that selected population is the target population, and can occur even in the absence ...
Smith, Louisa H., VanderWeele, Tyler J.
core   +1 more source

Human Cytomegalovirus: detection of congenital and perinatal infection in Argentina [PDF]

, 2004
BACKGROUND: Human cytomegalovirus (CMV) is one of the most commonly found agents of congenital infections. Primary maternal infection is associated with risk of symptomatic congenital diseases, and high morbidity is frequently associated with very low ...
Alicia Alonso, Angélica Lidia Distéfano, B Zweygberg Wirgart, D Shibata, DJ Morris, E Gonczol, Fabián Martin, Fabián Pardon, GJ Demmler, J Darlington, JC Mendez, JR Murph, KB Fowler, M Barbi, M Barbi, M Brytting, M Shibata, MG Revello, MG Revello, NM Jiwa, PD Griffiths, PV Coyle, RJ Whitley, S Chou, SA Plotkin, SB Boppana   +25 more
core   +3 more sources

Nano‐ and Micro‐Sized Solid Materials Used as Antiviral Agents

Advanced Functional Materials, EarlyView.
Due to the rise of viral infections in humans and possible viral outbreaks, the use of nano‐ or micro‐sized materials as antiviral agents is rapidly increasing. This review explores their antiviral properties against RNA and DNA viruses, either as a prevention or a treatment tool, by delving into their mechanisms of action and how to properly assess ...
Orfeas‐Evangelos Plastiras, Imelda Raczkiewicz, Peggy Bouquet, Jean‐Philippe Dacquin, Jeremy Dhainaut, Anne Goffard, Christophe Volkringer   +6 more
wiley   +1 more source

Microcephaly in Neurometabolic Diseases

Children, 2022
Neurometabolic disorders are an important group of diseases that mostly occur in neonates and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors necessary for a specific biochemical reaction, which leads to a deficiency of ...
Wiktoria Kempińska, Karolina Korta, Magdalena Marchaj, Justyna Paprocka   +3 more
doaj   +1 more source