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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, [ ... ], Sukanya Horpaopan

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

Gregory P. Sprenger, Monique van Velzen, [ ... ], Susanne T. de Bot

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

Hua Li, Alexander Pemov, [ ... ], Margaret R. Wallace

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

Birna Ásbjörnsdóttir, Christian Sandøe Musaeus, [ ... ], Jørgen Erik Nielsen

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

Han-Ying Chen, Yi-Ting Wang, [ ... ], Tsang-Ming Ko

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

Eirlys J. Pijpers, Bart Bloemen, [ ... ], Edith H. C. Cup

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

Wasako Tato, Tatsuya Suwabe, [ ... ], Naoki Sawa

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

Allison McCrady, Seth Friedman, [ ... ], Silvia Blemker

Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients

Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, [ ... ], Raja Mokdad-Gargouri

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

Maria Caulfield, Sahdia Parveen, [ ... ], Linda Clare

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, [ ... ], Sarah Schlaeger

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

Samuli Harju, Antti Saari, Reijo Sund, Ulla Sankilampi

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

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