Results 101 to 110 of about 547,940 (314)

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

Maternal autonomy and the education of the subsequent generation : evidence from three contrasting states in India [PDF]

, 2011
This paper makes a significant contribution on both conceptual and methodological fronts, in the analysis of the effect of maternal autonomy on school enrolment age of children in India.
Alfano, Marco, Kambhampati, Uma, Arulampalam, Wiji, Kambhampati, Uma S.   +3 more
core  

Autonomy in Medical Ethics After O'Neill

, 2005
Following the influential Gifford and Reith lectures by Onora O'Neill, this paper explores further the paradigm of individual autonomy which has been so dominant in bioethics until recently and concurs that it is an aberrant application and that ...
Gill, R., Stirrat, G.M.
core   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Maternal Autonomy and the Education of the Subsequent Generation: Evidence from Three Contrasting States in India [PDF]

This paper makes a significant contribution on both conceptual and methodological fronts, in the analysis of the effect of maternal autonomy on school enrolment age of children in India.
Alfano, Marco, Kambhampati, Uma, Arulampalam, Wiji   +2 more
core   +2 more sources

Women’s Autonomy in the Context of Rural Pakistan [PDF]

The paper explores the elements that constitute women’s autonomy in rural Pakistan. Hitherto most research on women’s status in Pakistan has either been restricted to proxy measures of women’s status generally or to the urban areas.
Zeba Ayesha Sathar, Shahnaz Kazi
core  

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò   +8 more
wiley   +1 more source

Medieval Settlement “Samar”: on the Issue of Analysis and Interpretation of Sources

Золотоордынское обозрение
The purpose of the study: To analyze well-known materials and introduce published sources and works of researchers into a wide scientific circulation, indicating the possibility of the appearance of Samara in the Golden Horde era.
Galimov Sh.Kh.
doaj   +1 more source

Postnatal Reproductive Autonomy: Promoting Relational Autonomy and Self-Trust in New Parents

, 2009
New parents suddenly come face to face with myriad issues that demand careful attention but appear in a context unlikely to provide opportunities for extended or clear-headed critical reflection, whether at home with a new baby or in the neonatal ...
Goering, Sara
core