Results 61 to 70 of about 873,322 (297)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Scanning Electron Microscopy

Current Protocols
AbstractScanning electron microscopy (SEM) remains distinct in its ability to allow topographical visualization of structures. Key elements to consider for successful examination of biological specimens include appropriate preparative and imaging techniques.
Elizabeth R. Fischer, Bryan T. Hansen, Vinod Nair, Forrest H. Hoyt, Cindi L. Schwartz, David W. Dorward   +5 more
openaire   +2 more sources

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Formation of crystalline tripalmitin-rich spicules in isolated hepatocytes.

Journal of Lipid Research, 1989
Conditions were developed for rapid deposition of triglyceride in isolated rat hepatocytes. Liver cells from fasted rats were incubated for 90 min at 37 degrees C with 3.0 mM palmitic or oleic acid, 4% bovine serum albumin, 20 mM glucose, 10 mM lactate ...
J A Ontko, D L Stiers, W F Woodside
doaj   +1 more source

Systematic Transmission Electron Microscopy‐Based Identification and 3D Reconstruction of Cellular Degradation Machinery [PDF]

, 2023
Kit Neikirk, Zer Vue, Prasanna Katti, Ben I. Rodriguez, Salem Omer, Jianqiang Shao, Trace Christensen, Edgar Garza-López, Andrea G. Marshall, Caroline B. Palavicino‐Maggio, Jessica Ponce, Ahmad F. Alghanem, Larry Vang, Taylor Barongan, Heather K. Beasley, Taylor Rodman, Dominique Stephens, Margaret Mungai, Marcelo Correia, Vernat Exil, Steven M. Damo, Sandra Murray, Amber Crabtree, Brian Glancy, Renata O. Pereira, E. Dale Abel, Antentor Hinton   +26 more
openalex   +1 more source

Electron Microscopy

, 2010
16 páginas, figuras, tablas Electron microscopy, as it is understood today, is not a single technique but a diversity of different ones that offer unique possibilities to gain insights into morphology, structure and composition of a specimen. The observable samples include biological specimens as well as inorganic and organic materials whose ...
Nieto García, Fernando, Jiménez-Millán, Juan, Gambogi Parreira, Gleydes, Chiarini-Garcia, H., Netto Melo, R.C.   +4 more
openaire   +3 more sources

Mechanochemical Synthesis and Characterization of Nanostructured ErB4 and NdB4 Rare‐Earth Tetraborides

Advanced Engineering Materials, Volume 27, Issue 6, March 2025.
ErB4 and NdB4 nanostructured powders are produced by mechanochemical synthesis. 5 h mechanical alloying and 4 M HCl acid leaching are used in the production. ErB4 and NdB4 powders exhibit maximum magnetization of 0.4726 emu g−1 accompanied with an antiferromagnetic‐to‐paramagnetic phase transition at about TN = 18 K and 0.132 emu g−1 with a maximum at ...
Burçak Boztemur, Faruk Kaya, Bora Derin, Mustafa Lütfi Öveçoğlu, Ju Li, Duygu Ağaoğulları   +5 more
wiley   +1 more source

Dynamic Precipitation during High‐Pressure Torsion of a Magnesium–Manganese Alloy

Advanced Engineering Materials, EarlyView.
An ultrafine‐grained alloy is produced by high‐pressure torsion of solutionized Mg–1.35 wt% Mn. Precipitation of nanometer‐scale Mn particles during deformation provides pinning sites. This prevents the formation of a bimodal grain structure and results in a finer grain size than for pure Mg.
Julian M. Rosalie, Anton Hohenwarter
wiley   +1 more source

Understanding the Effect of Resistance Temperature Detector Temperature Controllers on Microstructural Alignment in Magnetic Freeze Casting

Advanced Engineering Materials, EarlyView.
The effect of temperature controllers that are commonly used in freeze‐casting is investigated in this work. Temperature controllers are observed to generate a voltage in the slurry. Microstructural alignment and ultimate compressive strength data show this voltage to interfere with the ability to align the microstructure using magnetic fields ...
Maddie A. Schmitz, Steven E. Naleway
wiley   +1 more source