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Autosomal dominant diseases

WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand

Worrawit Wanitsuwan, Kanet Kanjanapradit, Supakool Jearanai, Yuthasak Suphasynth, Pongsatorn Supaattagorn, Sukanya Vijasika, Surasak Wanram, Chumpol Ngamphiw, Vorthunju Nakhonsri, Sissades Tongsima, Palakorn Satsue, Natnaree Sangkeaw, Sukanya Horpaopan

published 11 May 2026

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Pain processing and pain assessment in Huntington’s disease: Study protocol of the Huntington’s disease - PAIN study

Gregory P. Sprenger, Monique van Velzen, Wilco P. Achterberg, Raymund A.C. Roos, Susanne T. de Bot

published 10 Apr 2026

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Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas

Hua Li, Alexander Pemov, Robert Allaway, David F. Muir, Lung-Ji Chang, Jineta Banerjee, Alexandra J. Scott, Jaime M.W. Nagy, Jian Liu, Meritxell Carrió, Helena Mazuelas, Anthony Yachnis, Sang Y. Lee, Xiaochun Zhang, Yang Lyu, Douglas R. Stewart, Angela Hirbe, Jaishri O. Blakeley, Eduard Serra, Deeann Wallis, Margaret R. Wallace

published 21 Jan 2026

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Blood-brain barrier integrity and prevalence of intrathecal T helper 17.1 cells in Huntington´s disease

Birna Ásbjörnsdóttir, Christian Sandøe Musaeus, Marie N. N. Hellem, Tua Vinther-Jensen, Patrick Ejlerskov, Esben Budtz-Jørgensen, Filippa Liliendahl Qvist, Anja Hviid Simonsen, Lena Elisabeth Hjermind, Niels Henning Skotte, Marina Rode von Essen, Finn Sellebjerg, Jørgen Erik Nielsen

published 12 Jan 2026

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Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study

Han-Ying Chen, Yi-Ting Wang, Jessica Kang, Yi-Yun Tai, Ti-Jia Yuan, Shin-Yu Lin, Shi-Ming Lin, Chien-Nan Lee, Tsang-Ming Ko

published 02 Dec 2025

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Effectiveness of the capability approach in rehabilitation for persons with neuromuscular diseases: A controlled before-after study

Eirlys J. Pijpers, Bart Bloemen, Wija J. Oortwijn, Baziel G. M. van Engelen, Gert Jan van der Wilt, Jan T. Groothuis, Edith H. C. Cup

published 23 Sep 2025

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Brachial-ankle pulse wave velocity predicts liver volume in patients with autosomal dominant polycystic kidney disease

Wasako Tato, Tatsuya Suwabe, Yoshifumi Ubara, Yuki Oba, Hiroki Mizuno, Daisuke Ikuma, Masayuki Yamanouchi, Noriko Inoue, Akinari Sekine, Kiho Tanaka, Eiko Hasegawa, Takehiko Wada, Naoki Sawa

published 21 Jul 2025

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3D finite element models reveal regional fatty infiltration modulates tibialis anterior force generating capacity in FSHD

Allison McCrady, Seth Friedman, Leo Wang, Dennis Shaw, Rabi Tawil, Jeffery Statland, Stephen Tapscott, Silvia Blemker

published 18 Jul 2025

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Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients

Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, Amena Saadallah-Kallel, Dorra Ben Ayed-Guerfali, Souhir Guidara, Imen Miladi-Abdennadher, Ikhlas Ben Ayed, Hassen Kamoun, Slim Charfi, Tahya Sellami-Boudawara, Imen Zribi, Foued Frikha, Salah Boujelbene, Raja Mokdad-Gargouri

published 24 Jun 2025

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Interventions to improve awareness and reduce the stigma associated with neurodegenerative conditions in minority ethnic communities: A scoping review protocol

Maria Caulfield, Sahdia Parveen, Matthew Prina, Jan R Oyebode, Karen Windle, Catherine Charlwood, Adelina Comas-Herrera, Catherine Quinn, Linda Clare

published 07 May 2025

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Deep learning-based acceleration of muscle water T2 mapping in patients with neuromuscular diseases by more than 50% - translating quantitative MRI from research to clinical routine

Joachim Schmitt, Dominik Weidlich, Kilian Weiss, Jonathan Stelter, Federica Montagnese, Marcus Deschauer, Benedikt Schoser, Claus Zimmer, Dimitrios C. Karampinos, Jan S. Kirschke, Sarah Schlaeger

published 16 Apr 2025

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Epidemiology of disorders associated with tall stature in childhood: A 20-year birth cohort study

Samuli Harju, Antti Saari, Reijo Sund, Ulla Sankilampi

published 15 Apr 2025

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Time-restricted eating in early-stage Huntington’s disease: A 12-week interventional clinical trial protocol

Russell G. Wells, Lee E. Neilson, Andrew W. McHill, Amie L. Hiller

published 25 Mar 2025

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