The mutation spectrum of the bestrophin protein - functional implications

Benjamin Bakall, Towa Marknell, Sofie Ingvast, +8

Human Genetics

Protein FunctionMedicineGeneticsNatural SciencesProtein Evolution +5

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

Alessandra Maugeri, Kris Flothmann, Nadine Hemmrich, +25

European Journal of Human Genetics

BiologyAllelic VariantC Stargardt MutationComparative GenomicsGenetics +10

Insulitis in human diabetes: a histological evaluation of donor pancreases

Marcus Lundberg, Peter Seiron, Sofie Ingvast, +2

Diabetologia

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene

Vesna Ponjavic, Louise Eksandh, Sten Andréasson, +5

Ophthalmic Genetics

Characterization of human organ donors testing positive for type 1 diabetes-associated autoantibodies

Akira Wiberg, A Granstam, Sofie Ingvast, +4

Clinical & Experimental Immunology

Frontotemporal Dementia-amyotrophic Lateral Sclerosis Complex is Simulated by Neurodegeneration With Brain Iron Accumulation

Alexander Santillo, Lena Skoglund, Maria Lindau, +8

Alzheimer Disease & Associated Disorders

NeuropsychologyNeurological DisorderCorticobasal DegenerationBrain Iron AccumulationSocial Sciences +15

Survival of Transplanted Allogeneic Beta Cells with No Immunosuppression

Per‐Ola Carlsson, Xiaomeng Hu, Hanne Scholz, +9

New England Journal of Medicine

Imaging of fibrogenesis in the liver by [18F]TZ-Z09591, an Affibody molecule targeting platelet derived growth factor receptor β

Olivia Wegrzyniak, Bo Zhang, Johanna Rokka, +13

EJNMMI Radiopharmacy and Chemistry

New Alzheimer's disease locus on chromosome 8

Vilmantas Giedraitis, Mattias Hedlund, Lena Skoglund, +5

Journal of Medical Genetics

Characterization of host defense molecules in the human pancreas

Anton Stenwall, Sofie Ingvast, Oskar Skog, +1

Islets

Microbial PathogensHost-microbe InteractionsImmunologyPathologyInnate Immunity +16