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PHYSICAL
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Mge13-026 | A 5 UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy |
| Quote: | This study expands the known genetic architecture of OPDM and distal myopathies in general and reinforces the emerging paradigm in which the sequence motif and genomic context of repeat expansions, rather than gene function alone, are key drivers of disease. The identification of TBC1D7 as a repeat expansion myopathy gene further highlights the need for systematic interrogation of noncoding repeat loci in unresolved neuromuscular disease cohorts.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.27.26349107v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.27.26349107v1.full-text |
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Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho |
| Search Authors: |
OPDM+Study+Group,+Lydia+Sagath,+Kornelia+Neveling,+Alexander+Hoischen,+Michael+G+Hanna,+Robert+DS+Pitceathly,+Arianna+Tucci,+Henry+Houlden,+Enrico+Bugiardini,+Stefen+Brady,+Mark+Roberts,+Matt+C.+Danzi,+Stephan+Zuchner,+Jonathan+Baets,+Andrea+Cortese&t=50" TARGET=auth>Liedewei Van de Vondel, Riccardo Curro, Stefano Facchini, Isaac Xu, Jonathan De Winter, Ilaria Quartesan, Alice Alice, Alicia Alonso-Jimenez, Willem De Ridder, Francesca Pizzuto, Alessandro Bertini, Gustavo Alves, Hermione Ugolini, David Pellerin, Tim De Pooter, Ashirwad Merve, Pedro Machado, span class="nlm-collab" data-hwp-id="collab-1">OPDM Study Group, Lydia Sagath, Kornelia Neveling, Alexander Hoischen, Michael G Hanna, Robert DS Pitceathly, Arianna Tucci, Henry Houlden, Enrico Bugiardini, Stefen Brady, Mark Roberts, Matt C. Danzi, Stephan Zuchner, Jonathan Baets, Andrea Cortese,
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DISEASE
HEART
KIDNEYS
PHYSICAL
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Mgr13-022 | Risk Factors for Cardiovascular Disease in Community-Dwelling Older Adults: The Potential Role of Dual Screening for Chronic Kidney Disease and Sarcopenia |
| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.29.26349633v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.29.26349633v1.full-text |
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Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho |
| Search Authors: |
Takahiro Nishida, Isaki Hanamura, Sumihisa Honda, Ayumi Honda,
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IMMUNE
PAIN
PHYSICAL
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Mrh13-026 | Type-1 interferon-driven innate and GZMK CD8 T cell activation precedes subclinical joint inflammation when rheumatoid arthritis is imminent |
| Quote: | These findings suggest IFN-I-driven immune priming in specific immune subsets precedes the onset of subclinical joint inflammation, whereas tissue-directed inflammatory and cytotoxic programmes emerge at the onset of joint inflammation when clinical RA is imminent.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.27.26349561v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.27.26349561v1.full-text |
| Search Similar: |
Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho |
| Search Authors: |
Fareeha Tariq, Paul Martin, Kerem Abacar, Weiyu Ye, Shawn Sun, Sophie MacKay, Dylan Muldoon, Sana Sharrack, Madhvi Menon, Hussein Al-Mossawi, Maya H Buch, Paul Emery, Darren Newton, Benjamin P Fairfax, Kulveer Mankia,
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