Publications in OpenAlex of which a co-author is affiliated to this organization
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| Title | DOI |
|---|---|
| https://doi.org/10.1111/1756-185x.70409 | A Scoping Review of Respiratory Dysfunction in Inclusion Body Myositis |
| https://doi.org/10.1212/cpj.0000000000200542 | Accelerating Medical Record Data Abstraction and Analysis in Muscular Dystrophy |
| https://doi.org/10.1016/j.ajpath.2025.09.005 | The D2.B10-Dmd/J Mouse Model of Duchenne Muscular Dystrophy Exhibits a Severe Mitochondrial Deficiency Not Observed in the C57BL/10ScSn-Dmd/J Mouse |
| https://doi.org/10.1016/j.nmd.2025.105970 | 543PGlobal insights into limb girdle muscular dystrophies from the TREAT-NMD global registries network |
| https://doi.org/10.1101/2025.10.10.681626 | Xylose phosphatase activity of dystroglycan self-regulates its receptor function |
| https://doi.org/10.1101/2025.10.13.682047 | The MARK2 kinase acts as a gatekeeper of CD28-dependent co-stimulation in T cells |
| https://doi.org/10.17816/jowd689546 | The potential for enhancing the efficacy of treatment for exacerbations of chronic recurrent uncomplicated cystitis in women: preliminary results from a randomized multicenter clinical trial |
| https://doi.org/10.1212/nxg.0000000000200313 | Developing a National Network for Leukodystrophy Research and Care in Canada |
| https://doi.org/10.1530/ec-25-0451 | Transitioning adolescents with rare forms of diabetes to adult care: challenges and perspectives |
| https://doi.org/10.1038/s41594-025-01683-6 | The Japan autophagy consortium |
| https://doi.org/10.21203/rs.3.rs-6918670/v1 | Design, Development, and Implementation of India’s National Registry for Rare and Other Inherited Disorders |
| https://doi.org/10.3390/genes16121515 | Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort |
| https://doi.org/10.6084/m9.figshare.30607104.v1 | Additional file 1 of Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions |
| https://doi.org/10.6084/m9.figshare.c.8145036.v1 | Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions |
| https://doi.org/10.6084/m9.figshare.c.8145036 | Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions |
| https://doi.org/10.6084/m9.figshare.30607104 | Additional file 1 of Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions |
| https://doi.org/10.1016/j.ajhg.2025.12.004 | De novo variants in KDM2A cause a syndromic neurodevelopmental disorder |
| https://doi.org/10.1177/22143602251364325 | Meeting report: 2024 Muscular Dystrophy Association summit on ‘Safety and challenges in gene therapy of neuromuscular diseases’ |
| https://doi.org/10.1093/ecco-jcc/jjaf231.401 | P0220 Redefining treat-to-target in Crohn’s disease: a pan-intestinal, multidevice deep learning model for the detection and differentiation of ulcers and erosions in capsule endoscopy |
| https://doi.org/10.1093/ecco-jcc/jjaf231.675 | P0494 Unmasking IBS: a deep learning model for Functional Disease detection in patients with suspected Inflammatory Bowel Disease |
| https://doi.org/10.15468/w7f5tx | Yellow legged Gull nesting in Kuriat Island in 2022, Tunisia |
| https://doi.org/10.1186/s40900-026-00866-9 | Evaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey study |
| https://doi.org/10.1212/nxg.0000000000200355 | Neurogenetics and Neurology® Genetics |
| https://doi.org/10.1007/978-1-4684-4112-3_3 | Regulation of Membrane Functions |
| https://doi.org/10.1007/978-1-4684-4112-3_1 | Phylogeny, Structure and Composition of Cell Membranes |
| https://doi.org/10.1007/978-1-4684-4112-3_2 | Characteristics and Behavior of Plasma Membranes |
| https://doi.org/10.1096/fasebj.29.1_supplement.801.3 | The Role of Sarcospan in Cardiac Sarcolemma Organization and Function |
| https://doi.org/10.1007/978-1-4684-4112-3_6 | Abnormalities in Muscle in Duchenne Muscular Dystrophy |