Results 131 to 140 of about 627,878 (334)

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

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

uORF-Tools – Workflow for the determination of translation-regulatory upstream open reading frames [PDF]

, 2018
Anica Scholz, Florian Eggenhofer, Rick Gelhausen, Björn Grüning, Kathi Zarnack, Bernhard Brüne, Rolf Backofen, Tobias Schmid   +7 more
openalex   +1 more source

Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley   +1 more source

How antisense transcripts can evolve to encode novel proteins

Nature Communications
Protein coding features can emerge de novo in non coding transcripts, resulting in emergence of new protein coding genes. Studies across many species show that a large fraction of evolutionarily novel non-coding RNAs have an antisense overlap with ...
Bharat Ravi Iyengar, Anna Grandchamp, Erich Bornberg-Bauer   +2 more
doaj   +1 more source

Transcriptional mapping of the varicella-zoster virus regulatory genes encoding open reading frames 4 and 63 [PDF]

, 1994
Paul R. Kinchington, Jean-Paul Vergnes, Patricia Defechereux, J Piette, Stephanie E. Turse   +4 more
openalex   +1 more source

Lived and Care Experiences of Chronic Musculoskeletal Shoulder Pain in Australian Adults: A Qualitative Study

Arthritis Care &Research, EarlyView.
Objective Australian evidence on lived and care experiences of chronic musculoskeletal shoulder pain (CMSP), irrespective of disorder classification or disease, is limited. However, such evidence is important for person‐centered care and informing local service pathways and care guidelines or standards.
Sonia Ranelli, Joanne E. Jordan, Ilana N. Ackerman, Alison Thorpe, Jennifer G. Persaud, Linda J. Woodhouse, Jason Chua, Ben Horgan, Andrew M. Briggs   +8 more
wiley   +1 more source

Revisiting Stability Criteria in Ball‐Milled High‐Entropy Alloys: Do Hume–Rothery and Thermodynamic Rules Equally Apply?

Advanced Engineering Materials, Volume 27, Issue 6, March 2025.
The stability criteria affecting the formation of high‐entropy alloys, particularly focusing in supersaturated solid solutions produced by mechanical alloying, are analyzed. Criteria based on Hume–Rothery rules are distinguished from those derived from thermodynamic relations. The formers are generally applicable to mechanically alloyed samples.
Javier S. Blázquez, Alejandro F. Manchón‐Gordón, Antonio Vidal‐Crespo, Rafael Caballero‐Flores, Jhon J. Ipus, Clara F. Conde   +5 more
wiley   +1 more source

BacS: An Abundant Bacteroid Protein in \u3cem\u3eRhizobium etli\u3c/em\u3e Whose Expression Ex Planta Requires \u3cem\u3enifA\u3c/em\u3e [PDF]

, 2003
Rhizobium etli CFN42 bacteroids from bean nodules possessed an abundant 16-kDa protein (BacS) that was found in the membrane pellet after cell disruption. This protein was not detected in bacteria cultured in tryptone-yeast extract.
Davila, Guillermo, Jahn, Olivia Jeanne, Noel, K. Dale, Romero, David   +3 more
core   +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