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Autosomal dominant diseases

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

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

Home cage-based insights into motor learning and strategy adaptation in a Huntington disease mouse model

Daniel Ramandi, Marja D. Sepers, [ ... ], Lynn A. Raymond

Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study

Anastasia V. Blokhina, Alexandra I. Ershova, [ ... ], Oxana M. Drapkina

Altered body as a source of interactional problems in the family of individuals with neurofibromatosis type 1 – A polish study

Katarzyna Kowal, Michał Skrzypek

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