Carina Frykholm

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration*

Tina Storm, Lisbeth Tranebjærg, Carina Frykholm et al. · Nephrology Dialysis Transplantation · 2012 · 83 citations · Full text

Medicine, Nephrology, Pediatrics +17

A Meniere's disease gene linked to chromosome 12p12.3

Joakim Klar, Carina Frykholm, Ulla Friberg et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2006 · 64 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Exome sequencing reveals <i>NAA15</i> and <i>PUF60</i> as candidate genes associated with intellectual disability

Jin Zhao, Jonatan Halvardson, Cecilia Zander et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2017 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Familial Ménière's Disease in Five Generations

Carina Frykholm, Hans-Christian Larsen, Niklas Dahl et al. · Otology & Neurotology · 2006 · 44 citations

Medicine, Genetics, Otolaryngology +15

Beyond the tubule: pathological variants of <i>LRP2</i>, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

Jennifer R. Charlton, Weizhen Tan, Ghaleb H. Daouk et al. · American Journal of Physiology-Renal Physiology · 2020 · 29 citations · Full text

Medicine, Nephrology, Pathology +17