Results 171 to 180 of about 308,349 (254)

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç, Jill K. Tjon, Ingeborg H. Linskens, Nienke Kok, Julia Slootbeek, Maria B. Tan‐Sindhunata, Harold van Bosse, Sara Lemin, Isabel Filges, Klaus Dieterich, Remco Jansen, Ani Samargian, Victoria Castillo‐Sánches, Judith G. Hall, Johanna I. P. de Vries   +14 more
wiley   +1 more source

T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy

Annals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes, Lukas Henning, Karen M. J. van Loo, Rainer Surges, Susanne Schoch, Albert J. Becker, Julika Pitsch   +6 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Integrating whole‐bone and regional analyses to understand human scapular growth

The Anatomical Record, EarlyView.
Abstract This study investigates ontogenetic changes in human scapular morphology using three‐dimensional geometric morphometrics with whole‐bone and region‐specific analyses. The aim is to evaluate whether the scapula follows a regular developmental pattern and whether its functionally distinct components, the scapular spine (SS) and glenoid fossa ...
Azahara Salazar‐Fernández, José Miguel Carretero, Laura Rodríguez, Rebeca García‐González   +3 more
wiley   +1 more source

Paleopathology of a putative colossosaurian caudal vertebra (Neosauropoda: Titanosauria) from the Presidente Prudente Formation, Brazil

The Anatomical Record, EarlyView.
Abstract Studies investigating paleopathologies in sauropods remain scarce despite their relative abundance in the fossil record. In this study we report new occurrence of paleopathological features, corresponding to a neoplasm found in a middle caudal vertebra (MCT.R.2120) of an advanced titanosaur from the Presidente Prudente Formation (Bauru Basin ...
Maria Luiza Peres Bertolossi, Kamila L. N. Bandeira, Roberta Veronese do Amaral, Arthur S. Brum, Rafael C. da Silva, Valéria Gallo   +5 more
wiley   +1 more source

Quantitative muscle architecture in large carnivorous marsupials (Marsupialia: Dasyuridae) and links to substrate use and prey processing

The Anatomical Record, EarlyView.
Abstract The Dasyurid species Sarcophilus harrisii, Dasyurus maculatus, and Dasyurus viverrinus, occupying diverse ecological niches and forming a guild structure in Tasmania, provide a basis for examining the roles of various forelimb muscle groups in prey capture and locomotion.
Riya G. Bidaye, Samuel H. Frenkel, David P. Hocking, Alistair R. Evans, Justin W. Adams   +4 more
wiley   +1 more source

The 9+ month marathon: How pregnancy may have shaped human endurance capacities

The Anatomical Record, EarlyView.
Abstract Anthropology has long considered the evolution of our uniquely human endurance capacities to be the result of selection upon anatomical and physiological features imposed by the demands of thermoregulation and resource acquisition, particularly during the demands of persistence hunting. Research has focused on the anatomical changes present in
Cara Ocobock
wiley   +1 more source