Peace in Colombia requires healing the scars of conflict on the mind and brain
A.I. is supported by grants from the multi-partner consortium to expand dementia research in Latin America (ReDLat, supported…
The role of endolysosomal progranulin and TMEM106B in neurodegenerative diseases | Molecular Neurodegeneration
Wilson DM 3rd, Cookson MR, Van Den Bosch L, Zetterberg H, Holtzman DM, Dewachter I. Hallmarks of neurodegenerative…
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing
We utilized chromosomal microarray analysis (CMA) and whole exome sequencing (WES) to investigate the prevalence of clinically relevant…
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches
Nakamori, M & Takahashi, MP Myotonic dystrophy. In: Takeda S, Miyagoe-Suzuki Y, Mori-Yoshimura M, editors. Translational research in…
AAV gene therapy for autosomal recessive deafness 9: a single-arm trial
Chang, Q. et al. Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in…
Exercise therapy and self-management support for individuals with multimorbidity: a randomized and controlled trial
Study design This was a pragmatic, assessor-blinded, multicenter, parallel-group RCT (1:1 treatment allocation) with follow-up assessments at 4,…
Health effects associated with consumption of processed meat, sugar-sweetened beverages and trans fatty acids: a Burden of Proof study
Monteiro, C. A. et al. Ultra-processed foods: what they are and how to identify them. Public Health Nutr.…
AAV mini-dystrophin gene therapy for Duchenne muscular dystrophy: a phase 1b trial
Study design and oversight This ongoing, nonrandomized, open-label, ascending-dose, phase 1b study (ClinicalTrials.gov registration no. NCT03362502) was initiated…
Clinical progression and genetic pathways in body-first and brain-first Parkinson’s disease | Molecular Neurodegeneration
Study participants We analysed data from 1120 clinically diagnosed and 910 prodromal Parkinson’s disease (PD) individuals enrolled in…