Results 51 to 60 of about 109,439 (302)

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

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Expanded application to plant reproductive tissues of a branched DNA probe‐based in situ hybridization method

Applications in Plant Sciences, EarlyView.
Abstract Premise Detecting clear tissue‐ and organ‐specific patterns of gene expression is key to understanding the genetic mechanisms that control plant development. In situ hybridization (ISH) of mRNA is one of the most precise, yet most challenging approaches to gene expression assays.
Brooklyn M. Anaya, Austin T. Nguyen, Kelly K. S. Matsunaga, Lena C. Hileman   +3 more
wiley   +1 more source

Enabling the study of gene function in gymnosperms: Virus‐induced gene silencing in Ephedra tweedieana

Applications in Plant Sciences, EarlyView.
Abstract Premise As the sister clade to angiosperms, extant gymnosperms are crucial for reconstructing ancestral gene regulatory networks in seed plants. This highlights the need for model systems representing each of their distinct lineages. However, tools to quickly and effectively investigate gene function in gymnosperms are still limited due to the
Anthony G. K. Garcia, Jo Trang Bùi, Todd P. Michael, Stefanie M. Ickert‐Bond, Verónica S. Di Stilio   +4 more
wiley   +1 more source

Habitat complexity and prey composition shape an apex predator's habitat use across contrasting landscapes

Ecography, EarlyView.
The spatial ecology of stalk‐and‐ambush predators like the Eurasian lynx Lynx lynx depends on prey availability and environmental features, yet the relative roles of these factors remain unclear at large spatial scales. In this study, we analysed lynx habitat use across central and southern Finland using snow‐track data from the Wildlife Triangle ...
Francesca Malcangi, Caio Graco‐Roza, Andreas Lindén, Janne Sundell, John Loehr   +4 more
wiley   +1 more source

Vegetation on the move: elevational shifts and greening dynamics across the Himalayan alpine zone

Ecography, EarlyView.
This study investigates alpine ‘vegetation line' (the upper limit of continuous plant community) dynamics in the Himalayan alpine zone (HAZ) over a 24‐year timescale (1999–2022) using maximum NDVI products derived from Landsat series datasets, adjusted for sampling bias using phenological modelling.
Ruolin Leng, Stephan Harrison, Dominic Fawcett, Achyut Tiwari, Mike Harrison, Karen Anderson   +5 more
wiley   +1 more source

Biomass‐derived hydrochars as eco‐friendly adsorbents for wastewater treatment applications

Environmental Progress &Sustainable Energy, EarlyView.
Abstract Emerging organic pollutants (EOPs), such as diethyl phthalate (DEP), bisphenol A (BPA), and methylene blue (MB), are only partially removed in conventional wastewater treatment plants. This study assesses hydrochars produced by hydrothermal carbonization (HTC) of spruce bark (SB), vine shoots (VSs), and wheat straw (WSs) for removing three ...
Emanuel Gheorghita Armanu, Sara Ribeirinho‐Soares, Christian Eberlein, Hermann J. Heipieper, Irina Volf, Olga C. Nunes, Olívia Salomé G. P. Soares   +6 more
wiley   +1 more source

Occurrence, morphology and growth of understory saplings in Swedish forests [PDF]

, 2004
Growing demands for a multipurpose forestry leads to increased use of silvicultural systems that avoid clear-cutting. Regeneration in such systems is based on establishment and ingrowth of new seedlings under a more or less closed canopy.
Wikberg, Per-Erik
core  

Wood and fibre properties of fertilized Norway spruce [PDF]

, 2003
Very intensive forest management is relatively unexplored in Sweden, and while there is interest in pursuing e.g. the use of fertilizers on selected areas, there is concern about the quality of the wood when growth rate increases.
Lundgren, Christina
core