Search Results - "Foley, A.R."

Author Index.

Source: Abstracts in Anthropology. Nov2024, Vol. 80 Issue 8, p829-845. 17p.

The Upregulation of NDUFB3 Is Implicated in Mitochondrial Dysfunction and Neuronal Apoptosis in Ischemic Stroke.

Authors: Cheng, Shuyue Mu, Zeyue Zhang, Feng et al.

Source: Cells (2073-4409). Jun2026, Vol. 15 Issue 12, p1071. 19p.

Phenotypic Diversity in Pediatric Congenital Myasthenic Syndrome: Insights from CHRNE and DPAGT1 Variants.

Authors: Ewida, Aya Al-Qaimari, Dima Shah, Ubaid et al.

Source: Neurology International. Jun2026, Vol. 18 Issue 6, p102. 11p.

Does Amyotrophic Lateral Sclerosis (ALS) Have Metabolic Causes from Human Evolution?

Authors: Spedding, Michael¹ (AUTHOR)

Source: Cells (2073-4409). Nov2025, Vol. 14 Issue 21, p1734. 40p.

The Clinical, Histological, and Genetic Spectrum of RYR1 Variants—A Multi-Center Israeli Cohort Study.

Authors: Ginsberg, Mira Michelson, Marina Aharoni, Sharon et al.

Source: Journal of Clinical Medicine. Feb2026, Vol. 15 Issue 4, p1388. 16p.

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

Authors: Sabatell, Patrizia Di Martino, Alberto Faldini, Cesare et al.

Source: International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 24, p12014. 22p.

The Integrated Approach in Patients with Spinal Muscular Atrophy in the Era of Early Diagnosis, Etiopathogenic Therapies and Multidisciplinary Standards of Care and Rehabilitation Interventions Leads to New Phenotypes.

Authors: Leanca, Madalina Cristina Mirea, Andrada Nicolae, Georgiana et al.

Source: Life (2075-1729). Nov2025, Vol. 15 Issue 11, p1731. 21p.

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

Authors: Chausova, Polina Cherevatova, Tatiana Dadali, Elena et al.

Source: International Journal of Molecular Sciences. Feb2025, Vol. 26 Issue 3, p1257. 14p.

Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.

Authors: Tropeano, Concetta Valentina La Morgia, Chiara Achilli, Alessandro et al.

Source: International Journal of Molecular Sciences. Feb2025, Vol. 26 Issue 3, p1116. 14p.

Landscape Analysis of COL6A1 , COL6A2 , and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Authors: Fortunato, Fernanda Fiocco, Laura Margutti, Alice et al.

Source: Biomolecules (2218-273X). Oct2025, Vol. 15 Issue 10, p1426. 19p.

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

Authors: Perrin, Aurélien Garcia-Uzquiano, Rocio Stojkovic, Tanya et al.

Source: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 23, p12994. 15p.

Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1 : Two Novel Families and Literature Review.

Authors: Merlini, Luciano Sabatelli, Patrizia Cenni, Vittoria et al.

Source: International Journal of Molecular Sciences. Jun2025, Vol. 26 Issue 11, p5387. 15p.

AMEsobreRuedas Early Powered Mobility in Children with Spinal Muscular Atrophy Type I: Protocol of a Randomized Controlled Trial †.

Authors: Palomo-Carrión, Rocío López-Muñoz, Purificación Longo, Egmar et al.

Source: Journal of Clinical Medicine. Aug2024, Vol. 13 Issue 16, p4875. 14p.

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.

Authors: Lee, Chung-Lin Chang, Ya-Hui Chuang, Chih-Kuang et al.

Source: International Journal of Molecular Sciences. Mar2026, Vol. 27 Issue 5, p2446. 20p.

An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.

Authors: Segarra-Casas, Alba Yépez, Vicente A. Demidov, German et al.

Source: International Journal of Molecular Sciences. Jul2024, Vol. 25 Issue 14, p7793. 12p.

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.

Authors: AlTawari, Asma Zakaria, Mohammad Kamel, Walaa et al.

Source: Neurology International. Jun2024, Vol. 16 Issue 3, p631-642. 12p.

Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.

Authors: Harding, Elizabeth R. Kanner, Cara H. Pasternak, Amy et al.

Source: Journal of Clinical Medicine. May2024, Vol. 13 Issue 9, p2634. 10p.

Drosophila melanogaster : A Model Organism in Muscular Dystrophy Studies.

Authors: Zhao, Yu Wang, Yujie Tulehalede, Ayibota et al.

Source: International Journal of Molecular Sciences. Feb2025, Vol. 26 Issue 4, p1459. 13p.

Integrative Multi-Omics and Network Analyses Reveal Pathogenic and Protective Pathways in Centronuclear Myopathies.

Authors: Simon, Alix Gineste, Charlotte Reiss, David et al.

Source: International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 23, p11572. 18p.

Structure and Function of the Extracellular Matrix in Normal and Pathological Conditions: Looking at the Bicuspid Aortic Valve.

Authors: Nappi, Francesco¹ (AUTHOR)

Source: International Journal of Molecular Sciences. Nov2025, Vol. 26 Issue 22, p10825. 47p.