Search Results - "Foley AR"

Rapid elongation drives the exceptionally fast aggregation of the most common localized human amyloid medin.

Authors: Roy Chowdhury, Vaidehi Horne, Robert I. Cali, Mariana P. et al.

Source: Communications Chemistry. 4/8/2026, Vol. 9 Issue 1, p1-11. 11p.

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Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study.

Authors: Shieh PB Hughes W Wood M et al.

Source: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2025 Sep 18; Vol. 6, pp. 26330040251362885. Date of Electronic Publication: 2025 Sep 18 (Print Publication: 2025).

Publication Type: Journal Article; Review

Journal Info: Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

Simplifying causal gene identification in GWAS loci.

Authors: Schipper, Marijn Ulirsch, Jacob Posthuma, Danielle et al.

Source: PLoS Genetics. 3/17/2026, Vol. 22 Issue 3, p1-17. 17p.

283rd ENMC international workshop: Establishing expert care recommendations for LAMA2-RD: A prototype for the development of congenital muscular dystrophy subtype-specific care guidelines. Hoofddorp, The Netherlands, January 17th-19th 2025.

Authors: Zambon AA Klein A Sarkozy A et al.

Corporate Authors: Zambon AA Klein A Sarkozy A et al.

Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2025 Oct; Vol. 55, pp. 106220. Date of Electronic Publication: 2025 Sep 23.

Publication Type: Journal Article

Journal Info: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants.

Authors: McCarty, Riley M. Saade, Dimah Munot, Pinki et al.

Source: Annals of Clinical & Translational Neurology. Mar2025, Vol. 12 Issue 3, p602-614. 13p.

Who should be included in first-in-human trials? A systematic review of reasons.

Authors: van Kempen, Lieke de Vries, Martine C. de Koning, Eelco J. P. et al.

Source: Journal of Translational Medicine. 6/11/2025, Vol. 23 Issue 1, p1-24. 24p.

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Authors: Silverstein S Ganapathy K Donkervoort S et al.

Source: Research square [Res Sq] 2026 Jan 29. Date of Electronic Publication: 2026 Jan 29.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

COL6A6 Downregulation and Stromal Remodeling as Predictors of an Aggressive Tumor Microenvironment in Lung Adenocarcinoma.

Authors: Yaldır, Emel Aktaş, Sedef Hande Dündar, Emine

Source: Duzce Medical Journal. Apr2026, Vol. 28 Issue 1, p47-51. 5p.

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Authors: Gunasekaran, Mekala Littel, Hannah R. Wells, Natalya M. et al.

Source: FEBS Journal. 9/15/2025, Vol. 292 Issue 18, p4854-4869. 16p.

Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN-related myopathy.

Authors: Hayes LH Neuhaus SB Donkervoort S et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024 Nov; Vol. 11 (6), pp. 1211-1220.

Publication Type: Journal Article

Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

A GDP-mannose-1-phosphate guanylyltransferase as a potential HIGS target against Sclerotinia sclerotiorum.

Authors: Zhang, Cheng Xu, Yan Li, Lin et al.

Source: PLoS Pathogens. 5/2/2025, Vol. 21 Issue 5, p1-21. 21p.

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Authors: Mohan, Shruthi McNulty, Shannon Thaxton, Courtney et al.

Source: Annals of Clinical & Translational Neurology. Sep2024, Vol. 11 Issue 9, p2268-2276. 9p.

Enfermedades neuromusculares en pediatría con tratamientos específicos.

Alternate Title: Neuromuscular diseases in pediatrics with specific treat ments.

Authors: Nascimento, Andrés Ortez, Carlos Expósito, Jessica et al.

Source: Medicina (Buenos Aires). 2025 Supplement 4, Vol. 85, p34-40. 7p.

Subjects: NEUROMUSCULAR diseases, SPINAL muscular atrophy, MUSCULAR dystrophy, PEDIATRICS, GENETIC disorder diagnosis, MITOCHONDRIAL pathology, MUSCLE diseases, LYSOSOMAL storage diseases

The impact of delayed evacuation on the quality of human fetal tissue.

Authors: Otaibi, Yasmeen Lee, Kevin Cort, Lucinda et al.

Source: PLoS ONE. 1/21/2026, Vol. 21 Issue 1, p1-14. 14p.

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Authors: Stark, Jamie C. Pipko, Neta Liang, Yijing et al.

Source: Genome Medicine. 7/1/2025, Vol. 17 Issue 1, p1-24. 24p.

Myositis Mimics: Recognizing Red Flags and Diagnostic Pitfalls.

Authors: Roy B Gupta L Liewluck T

Source: Current rheumatology reports [Curr Rheumatol Rep] 2026 Apr 15; Vol. 28 (1). Date of Electronic Publication: 2026 Apr 15.

Publication Type: Journal Article; Review

Journal Info: Publisher: Current Science Country of Publication: United States NLM ID: 100888970 Publication Model: Electronic Cited Medium: Internet ISSN: 1534-6307 (Electronic) Linking ISSN: 15233774 NLM ISO Abbreviation: Curr Rheumatol Rep Subsets: MEDLINE; In Process

A generic anti-drug antibody assay for monoclonal antibody therapeutics with broad dynamic range eliminates the need for titer evaluation in preclinical studies.

Authors: Li H Foley AR Shim J et al.

Source: Journal of pharmaceutical and biomedical analysis [J Pharm Biomed Anal] 2024 Oct 15; Vol. 249, pp. 116364. Date of Electronic Publication: 2024 Jul 15.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: England NLM ID: 8309336 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-264X (Electronic) Linking ISSN: 07317085 NLM ISO Abbreviation: J Pharm Biomed Anal Subsets: MEDLINE

The utility and advantages of exome and genome sequencing in pediatric kidney disease diagnosis.

Authors: Jang, Seokhui Lee, Hane

Source: Childhood Kidney Diseases. Jun2026, Vol. 30 Issue 2, p77-85. 9p.

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.

Authors: Nejati, Parham Falsafi, Nafiseh Alimoradi, Elham et al.

Source: BMC Medical Genomics. 11/4/2025, Vol. 18 Issue 1, p1-9. 9p.